ORDO en 4.8.owl
type: Ontology
creator: Ana Rath
creator: Annie Olry
creator: Boulares Ouchenne
creator: Caterina Lucano
creator: David Lagorce
creator: Marc Hanauer
creator: Valérie Lanneau
created: 2013-06-20T12:00:00
license: https://creativecommons.org/licenses/by/4.0/
modified: 2025-12-09T08:11:52
version info: 4.8

curator_inference
type: AnnotationProperty

manual_assertion
type: AnnotationProperty

has_inheritance
type: AnnotationProperty
definition: Relationship between a clinical entity and modes of inheritance.

has_age_of_onset
type: AnnotationProperty
definition: Relationship between clinical entity and age of onset.

present_in
type: AnnotationProperty
definition: Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available.

expert link
type: AnnotationProperty
definition: Stable URL retro-compatible with older versions of the Orphanet website, redirected towards the specific page of a given clinical entity on the Orphanet website.

historical entity
type: AnnotationProperty
definition: A clinical entity for which no new information has been published in the literature since the advent of the genetic era in the 1990s, but is considered as a distinct phenotype and is therefore kept in the nomenclature.

website link
type: AnnotationProperty
definition: Stable URL directing to the specific page of a given clinical entity on the Orphanet website.

part_of
type: ObjectProperty
definition: Relation between two clinical entities, one being included in the other. Ex : clinical subtype part_of disease.

disease-causing germline mutation(s) in
type: ObjectProperty
definition: A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring.

disease-causing somatic mutation(s) in
type: ObjectProperty
definition: A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring.

major susceptibility factor in
type: ObjectProperty
definition: A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder.

modifying germline mutation in
type: ObjectProperty
definition: A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring.

part of a fusion gene in
type: ObjectProperty
definition: A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene.

role in the phenotype of
type: ObjectProperty
definition: A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement.

candidate gene tested in
type: ObjectProperty
definition: A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available.

disease-causing germline mutation(s) (loss of function) in
type: ObjectProperty
definition: A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.

disease-causing germline mutation(s) (gain of function) in
type: ObjectProperty
definition: A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.

biomarker tested in
type: ObjectProperty
definition: A gene in which a variation is used to monitor disorder activity and/or patient outcome.

moved to
type: ObjectProperty
definition: This relation is generated between the deprecated entity and the active clinical entity (designated as the target entity) that is now recognized. The targeted ORPHAcode must be used as the code of replacement.

referred to
type: ObjectProperty
definition: This relation is generated between an obsolete entity and an active clinical entity (designated as the target entity) for appropriate redirection towards a code of replacement in coding settings. The targeted ORPHAcode should be viewed as a suggestion.

has_chromosomal location
type: DatatypeProperty
definition: Relationship between a gene with protein product, non-coding RNA or disorder-associated locus and its cytogenetic location on the chromosome.

48,XXYY syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165707
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_263749
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_325546
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
definition: A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.
definition citation: Orphanet
has db xref: ICD-10:Q98.8
has db xref: ICD-11:LD50.3Y
has db xref: MONDO:0015028
has db xref: MeSH:D007713
has db xref: MedDRA:10048230
has db xref: UMLS:C2936741
has_inheritance: Not applicable
has_inheritance: Unknown
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/10
notation: ORPHA:10

Axiom
annotated source: 48,XXYY syndrome
annotated property: hasDbXref
annotated target: MedDRA:10048230
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: 48,XXYY syndrome
annotated property: hasDbXref
annotated target: UMLS:C2936741
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: 48,XXYY syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q98.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: 48,XXYY syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD50.3Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: 48,XXYY syndrome
annotated property: hasDbXref
annotated target: MONDO:0015028
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: 48,XXYY syndrome
annotated property: hasDbXref
annotated target: MeSH:D007713
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ataxia-telangiectasia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166466
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_169346
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183422
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183478
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_252190
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_485382
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519341
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522506
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79379
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95710
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98097
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
alternative term: Louis-Bar syndrome
definition: A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.
definition citation: Orphanet
has db xref: ICD-10:G11.3
has db xref: ICD-11:4A01.31
has db xref: MONDO:0008840
has db xref: MeSH:D001260
has db xref: MedDRA:10003594
has db xref: OMIM:208900
has db xref: OMIM:208910
has db xref: UMLS:C0004135
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100
notation: ORPHA:100

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: ICD-10:G11.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: ICD-11:4A01.31
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: MONDO:0008840
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: MeSH:D001260
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: MedDRA:10003594
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: OMIM:208900
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: OMIM:208910
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Ataxia-telangiectasia
annotated property: hasDbXref
annotated target: UMLS:C0004135
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ocular albinism with late-onset sensorineural deafness
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284804
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
alternative term: Ocular albinism with late-onset sensorineural hearing loss
definition: Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
definition citation: Orphanet
has db xref: ICD-10:E70.3
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0010390
has db xref: MeSH:C537043
has db xref: OMIM:300650
has db xref: UMLS:C1845069
has_inheritance: X-linked recessive
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 9.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1000
notation: ORPHA:1000

Axiom
annotated source: Ocular albinism with late-onset sensorineural deafness
annotated property: hasDbXref
annotated target: ICD-10:E70.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ocular albinism with late-onset sensorineural deafness
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ocular albinism with late-onset sensorineural deafness
annotated property: hasDbXref
annotated target: MONDO:0010390
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ocular albinism with late-onset sensorineural deafness
annotated property: hasDbXref
annotated target: MeSH:C537043
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ocular albinism with late-onset sensorineural deafness
annotated property: hasDbXref
annotated target: OMIM:300650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ocular albinism with late-onset sensorineural deafness
annotated property: hasDbXref
annotated target: UMLS:C1845069
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Reticular perineurioma
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Extraneural perineurioma
has db xref: ICD-10:D36.1
has db xref: ICD-11:2F3Y
has db xref: MONDO:0015029
has db xref: UMLS:C5681810
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100000
notation: Clinical subtype
notation: ORPHA:100000

Axiom
annotated source: Reticular perineurioma
annotated property: hasDbXref
annotated target: ICD-10:D36.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Reticular perineurioma
annotated property: hasDbXref
annotated target: ICD-11:2F3Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Reticular perineurioma
annotated property: hasDbXref
annotated target: MONDO:0015029
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Reticular perineurioma
annotated property: hasDbXref
annotated target: UMLS:C5681810
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Sclerosing perineurioma
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Extraneural perineurioma
has db xref: ICD-10:D36.1
has db xref: ICD-11:2F3Y
has db xref: MONDO:0015030
has db xref: UMLS:C5681811
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100001
notation: Clinical subtype
notation: ORPHA:100001

Axiom
annotated source: Sclerosing perineurioma
annotated property: hasDbXref
annotated target: ICD-10:D36.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Sclerosing perineurioma
annotated property: hasDbXref
annotated target: ICD-11:2F3Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Sclerosing perineurioma
annotated property: hasDbXref
annotated target: MONDO:0015030
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sclerosing perineurioma
annotated property: hasDbXref
annotated target: UMLS:C5681811
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Extraneural perineurioma
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85102
alternative term: Soft tissue perineurioma
definition: Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.
definition citation: Orphanet
has db xref: ICD-10:D36.1
has db xref: ICD-11:2F3Y
has db xref: MONDO:0015031
has db xref: UMLS:C4708595
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
has_age_of_onset: Elderly
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 300.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100002
notation: ORPHA:100002

Axiom
annotated source: Extraneural perineurioma
annotated property: hasDbXref
annotated target: ICD-10:D36.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Extraneural perineurioma
annotated property: hasDbXref
annotated target: ICD-11:2F3Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Extraneural perineurioma
annotated property: hasDbXref
annotated target: MONDO:0015031
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Extraneural perineurioma
annotated property: hasDbXref
annotated target: UMLS:C4708595
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Intraneural perineurioma
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85102
definition: Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.
definition citation: Orphanet
has db xref: ICD-10:D36.1
has db xref: ICD-11:2F3Y
has db xref: ICD-11:XH4BQ8
has db xref: MONDO:0015032
has db xref: UMLS:C1370658
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 172.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100003
notation: ORPHA:100003

Axiom
annotated source: Intraneural perineurioma
annotated property: hasDbXref
annotated target: ICD-10:D36.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Intraneural perineurioma
annotated property: hasDbXref
annotated target: ICD-11:2F3Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Intraneural perineurioma
annotated property: hasDbXref
annotated target: ICD-11:XH4BQ8
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Intraneural perineurioma
annotated property: hasDbXref
annotated target: MONDO:0015032
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Intraneural perineurioma
annotated property: hasDbXref
annotated target: UMLS:C1370658
manual_assertion: E (Exact mapping: the two concepts are equivalent)

ABeta amyloidosis, Dutch type
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85458
alternative term: ABetaE22Q amyloidosis
alternative term: HCHWA, Dutch type
alternative term: HCHWA-D
alternative term: Hereditary cerebral hemorrhage with amyloidosis, Dutch type
definition: A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia.
definition citation: Orphanet
has db xref: ICD-10:E85.4+
has db xref: ICD-10:I68.0*
has db xref: ICD-11:8B22.3
has db xref: MONDO:0015033
has db xref: OMIM:605714
has db xref: UMLS:C2931672
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 250.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100006
notation: Clinical subtype
notation: ORPHA:100006

Axiom
annotated source: ABeta amyloidosis, Dutch type
annotated property: hasDbXref
annotated target: ICD-10:E85.4+
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: ABeta amyloidosis, Dutch type
annotated property: hasDbXref
annotated target: ICD-10:I68.0*
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: ABeta amyloidosis, Dutch type
annotated property: hasDbXref
annotated target: ICD-11:8B22.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: ABeta amyloidosis, Dutch type
annotated property: hasDbXref
annotated target: MONDO:0015033
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: ABeta amyloidosis, Dutch type
annotated property: hasDbXref
annotated target: OMIM:605714
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: ABeta amyloidosis, Dutch type
annotated property: hasDbXref
annotated target: UMLS:C2931672
manual_assertion: E (Exact mapping: the two concepts are equivalent)

ACys amyloidosis
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_85458
alternative term: CST3-related amyloidosis
alternative term: Cystatin amyloidosis
alternative term: HCHWA, Icelandic type
alternative term: Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
alternative term: Hereditary cystatin C amyloid angiopathy
definition: A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.
definition citation: Orphanet
has db xref: ICD-10:E85.4+
has db xref: ICD-10:I68.0*
has db xref: ICD-11:8B22.3
has db xref: MONDO:0007098
has db xref: OMIM:105150
has db xref: UMLS:C1527338
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 9.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100008
notation: Clinical subtype
notation: ORPHA:100008

Axiom
annotated source: ACys amyloidosis
annotated property: hasDbXref
annotated target: ICD-10:E85.4+
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: ACys amyloidosis
annotated property: hasDbXref
annotated target: ICD-10:I68.0*
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: ACys amyloidosis
annotated property: hasDbXref
annotated target: ICD-11:8B22.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: ACys amyloidosis
annotated property: hasDbXref
annotated target: MONDO:0007098
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: ACys amyloidosis
annotated property: hasDbXref
annotated target: OMIM:105150
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: ACys amyloidosis
annotated property: hasDbXref
annotated target: UMLS:C1527338
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lissencephaly with cerebellar hypoplasia type A
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
definition: A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015034
has db xref: UMLS:C5191423
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100011
notation: ORPHA:100011

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type A
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type A
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type A
annotated property: hasDbXref
annotated target: MONDO:0015034
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type A
annotated property: hasDbXref
annotated target: UMLS:C5191423
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lissencephaly with cerebellar hypoplasia type B
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
definition: A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015035
has db xref: UMLS:C4274993
has_age_of_onset: Antenatal
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 50.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100012
notation: ORPHA:100012

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type B
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type B
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type B
annotated property: hasDbXref
annotated target: MONDO:0015035
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type B
annotated property: hasDbXref
annotated target: UMLS:C4274993
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lissencephaly with cerebellar hypoplasia type C
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
definition: A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015036
has db xref: UMLS:C4274992
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100013
notation: ORPHA:100013

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type C
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type C
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type C
annotated property: hasDbXref
annotated target: MONDO:0015036
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type C
annotated property: hasDbXref
annotated target: UMLS:C4274992
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lissencephaly with cerebellar hypoplasia type D
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
definition: A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015037
has db xref: UMLS:C4274991
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100014
notation: ORPHA:100014

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type D
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type D
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type D
annotated property: hasDbXref
annotated target: MONDO:0015037
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type D
annotated property: hasDbXref
annotated target: UMLS:C4274991
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lissencephaly with cerebellar hypoplasia type E
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
definition: A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015038
has db xref: UMLS:C5191422
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100015
notation: ORPHA:100015

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type E
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type E
annotated property: hasDbXref
annotated target: MONDO:0015038
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type E
annotated property: hasDbXref
annotated target: UMLS:C5191422
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type E
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Lissencephaly with cerebellar hypoplasia type F
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86823
definition: A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015039
has db xref: UMLS:C4274989
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100016
notation: ORPHA:100016

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type F
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type F
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type F
annotated property: hasDbXref
annotated target: MONDO:0015039
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly with cerebellar hypoplasia type F
annotated property: hasDbXref
annotated target: UMLS:C4274989
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Myelodysplastic neoplasm with increased blasts type 1
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86839
alternative term: MDS-IB1
alternative term: RAEB-1
alternative term: Refractory anemia with excess blasts type 1
definition: A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
definition citation: Orphanet
has db xref: ICD-10:D46.2
has db xref: ICD-11:2A35
has db xref: MONDO:0015040
has db xref: UMLS:C1318550
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100019
notation: Clinical subtype
notation: ORPHA:100019

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 1
annotated property: hasDbXref
annotated target: ICD-10:D46.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 1
annotated property: hasDbXref
annotated target: ICD-11:2A35
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 1
annotated property: hasDbXref
annotated target: MONDO:0015040
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 1
annotated property: hasDbXref
annotated target: UMLS:C1318550
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Myelodysplastic neoplasm with increased blasts type 2
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86839
alternative term: MDS-IB2
alternative term: RAEB-2
alternative term: Refractory anemia with excess blasts type 2
definition: A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
definition citation: Orphanet
has db xref: ICD-10:D46.2
has db xref: ICD-11:2A35
has db xref: MONDO:0015041
has db xref: UMLS:C4704767
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100020
notation: Clinical subtype
notation: ORPHA:100020

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 2
annotated property: hasDbXref
annotated target: ICD-10:D46.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 2
annotated property: hasDbXref
annotated target: ICD-11:2A35
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 2
annotated property: hasDbXref
annotated target: MONDO:0015041
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Myelodysplastic neoplasm with increased blasts type 2
annotated property: hasDbXref
annotated target: UMLS:C4704767
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Primary plasmacytoma of the bone
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86855
has db xref: ICD-10:C90.3
has db xref: ICD-11:2A83.2
has db xref: MONDO:0015042
present_in: United States AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100021
notation: Clinical subtype
notation: ORPHA:100021

Axiom
annotated source: Primary plasmacytoma of the bone
annotated property: hasDbXref
annotated target: ICD-10:C90.3
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Primary plasmacytoma of the bone
annotated property: hasDbXref
annotated target: ICD-11:2A83.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Primary plasmacytoma of the bone
annotated property: hasDbXref
annotated target: MONDO:0015042
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Extramedullary soft tissue plasmacytoma
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86855
has db xref: ICD-10:C90.2
has db xref: ICD-11:2A83.2
has db xref: MONDO:0015043
has db xref: UMLS:C2211567
present_in: United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100022
notation: Clinical subtype
notation: ORPHA:100022

Axiom
annotated source: Extramedullary soft tissue plasmacytoma
annotated property: hasDbXref
annotated target: ICD-10:C90.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Extramedullary soft tissue plasmacytoma
annotated property: hasDbXref
annotated target: ICD-11:2A83.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Extramedullary soft tissue plasmacytoma
annotated property: hasDbXref
annotated target: MONDO:0015043
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Extramedullary soft tissue plasmacytoma
annotated property: hasDbXref
annotated target: UMLS:C2211567
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Mu-heavy chain disease
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86864
alternative term: mu-HCD
definition: A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
definition citation: Orphanet
has db xref: ICD-10:C88.2
has db xref: ICD-11:2A84.2
has db xref: ICD-11:XH2JK2
has db xref: MONDO:0015044
has db xref: UMLS:C0242310
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 35.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100024
notation: Clinical subtype
notation: ORPHA:100024

Axiom
annotated source: Mu-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-10:C88.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Mu-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-11:2A84.2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Mu-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-11:XH2JK2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Mu-heavy chain disease
annotated property: hasDbXref
annotated target: MONDO:0015044
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Mu-heavy chain disease
annotated property: hasDbXref
annotated target: UMLS:C0242310
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Alpha-heavy chain disease
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86864
alternative term: Alpha-HCD
alternative term: IPSID
alternative term: Immunoproliferative small intestinal disease
alternative term: Mediterranean lymphoma
definition: A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
definition citation: Orphanet
has db xref: ICD-10:C88.3
has db xref: ICD-11:2A84.0
has db xref: ICD-11:XH1Y65
has db xref: MONDO:0015045
has db xref: MeSH:D007161
has db xref: UMLS:C0021071
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 400.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100025
notation: Clinical subtype
notation: ORPHA:100025

Axiom
annotated source: Alpha-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-10:C88.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Alpha-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-11:2A84.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Alpha-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-11:XH1Y65
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Alpha-heavy chain disease
annotated property: hasDbXref
annotated target: MONDO:0015045
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alpha-heavy chain disease
annotated property: hasDbXref
annotated target: MeSH:D007161
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alpha-heavy chain disease
annotated property: hasDbXref
annotated target: UMLS:C0021071
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Gamma-heavy chain disease
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86864
alternative term: Franklin disease
alternative term: Gamma-HCD
definition: A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
definition citation: Orphanet
has db xref: ICD-10:C88.2
has db xref: ICD-11:2A84.1
has db xref: MONDO:0015046
has db xref: UMLS:C0018854
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 120.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100026
notation: Clinical subtype
notation: ORPHA:100026

Axiom
annotated source: Gamma-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-10:C88.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Gamma-heavy chain disease
annotated property: hasDbXref
annotated target: ICD-11:2A84.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Gamma-heavy chain disease
annotated property: hasDbXref
annotated target: MONDO:0015046
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Gamma-heavy chain disease
annotated property: hasDbXref
annotated target: UMLS:C0018854
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hypoplastic amelogenesis imperfecta
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
alternative term: Amelogenesis imperfecta type 1
has db xref: ICD-10:K00.5
has db xref: ICD-11:LA30.6
has db xref: MONDO:0015047
has db xref: MeSH:C538240
has db xref: OMIM:104500
has db xref: OMIM:104530
has db xref: OMIM:204650
has db xref: OMIM:301201
has db xref: OMIM:616221
has db xref: OMIM:616270
has db xref: OMIM:617297
has db xref: UMLS:C0399367
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100031
notation: Clinical subtype
notation: ORPHA:100031

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: ICD-10:K00.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: ICD-11:LA30.6
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: MONDO:0015047
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: MeSH:C538240
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:104500
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:104530
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:204650
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:301201
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:616221
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:616270
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:617297
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypoplastic amelogenesis imperfecta
annotated property: hasDbXref
annotated target: UMLS:C0399367
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hypocalcified amelogenesis imperfecta
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
alternative term: Amelogenesis imperfecta type 3
has db xref: ICD-10:K00.5
has db xref: ICD-11:LA30.6
has db xref: MONDO:0968955
has db xref: MeSH:C562880
has db xref: OMIM:130900
has db xref: OMIM:616221
has db xref: OMIM:617607
has db xref: OMIM:618386
has db xref: UMLS:C0399376
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100032
notation: Clinical subtype
notation: ORPHA:100032

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: ICD-10:K00.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: ICD-11:LA30.6
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: MONDO:0968955
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: MeSH:C562880
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:130900
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:616221
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:617607
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:618386
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypocalcified amelogenesis imperfecta
annotated property: hasDbXref
annotated target: UMLS:C0399376
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hypomaturation amelogenesis imperfecta
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
alternative term: Amelogenesis imperfecta type 2
has db xref: ICD-10:K00.5
has db xref: ICD-11:LA30.6
has db xref: MONDO:0015048
has db xref: MeSH:C536606
has db xref: OMIM:204700
has db xref: OMIM:301200
has db xref: OMIM:612529
has db xref: OMIM:613211
has db xref: OMIM:614832
has db xref: OMIM:615887
has db xref: OMIM:617217
has db xref: UMLS:C0399372
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100033
notation: Clinical subtype
notation: ORPHA:100033

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: ICD-10:K00.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: ICD-11:LA30.6
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: MONDO:0015048
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: MeSH:C536606
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:204700
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:301200
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:612529
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:613211
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:614832
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:615887
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: OMIM:617217
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hypomaturation amelogenesis imperfecta
annotated property: hasDbXref
annotated target: UMLS:C0399372
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88661
alternative term: Amelogenesis imperfecta type 4
has db xref: ICD-10:K00.5
has db xref: ICD-11:LA30.6
has db xref: MONDO:0007093
has db xref: OMIM:104510
has db xref: UMLS:C0399373
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100034
notation: Clinical subtype
notation: ORPHA:100034

Axiom
annotated source: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
annotated property: hasDbXref
annotated target: ICD-10:K00.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
annotated property: hasDbXref
annotated target: ICD-11:LA30.6
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
annotated property: hasDbXref
annotated target: MONDO:0007093
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
annotated property: hasDbXref
annotated target: OMIM:104510
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
annotated property: hasDbXref
annotated target: UMLS:C0399373
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Solitary necrotic nodule of the liver
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306636
alternative term: Hepatic solitary necrotic nodule
definition: A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
definition citation: Orphanet
has db xref: ICD-10:K76.8
has db xref: ICD-11:DB99.Y
has db xref: MONDO:0015049
has db xref: UMLS:C2960192
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100035
notation: ORPHA:100035

Axiom
annotated source: Solitary necrotic nodule of the liver
annotated property: hasDbXref
annotated target: ICD-10:K76.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Solitary necrotic nodule of the liver
annotated property: hasDbXref
annotated target: ICD-11:DB99.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Solitary necrotic nodule of the liver
annotated property: hasDbXref
annotated target: MONDO:0015049
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Solitary necrotic nodule of the liver
annotated property: hasDbXref
annotated target: UMLS:C2960192
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Familial pseudohyperkalemia type 1
type: Class
subclass of: Orphanet C045
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 3202
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dehydrated hereditary stomatocytosis
deprecated: true
notation: ORPHA:100039

OBSOLETE: Familial pseudohyperkalemia type 2
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_90044
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial pseudohyperkalemia
deprecated: true
notation: ORPHA:100040

OBSOLETE: Familial pseudohyperkalemia, Cardiff type
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_90044
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial pseudohyperkalemia
deprecated: true
notation: ORPHA:100041

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
alternative term: CMTDIA
definition: A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.2
has db xref: MONDO:0011675
has db xref: MeSH:C564702
has db xref: OMIM:606483
has db xref: UMLS:C1847896
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 20.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100043
notation: ORPHA:100043

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
annotated property: hasDbXref
annotated target: ICD-11:8C20.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
annotated property: hasDbXref
annotated target: MONDO:0011675
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
annotated property: hasDbXref
annotated target: MeSH:C564702
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
annotated property: hasDbXref
annotated target: OMIM:606483
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
annotated property: hasDbXref
annotated target: UMLS:C1847896
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
alternative term: CMTDIB
definition: A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.2
has db xref: MONDO:0011674
has db xref: MeSH:C564703
has db xref: OMIM:606482
has db xref: UMLS:C1847902
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 37.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100044
notation: ORPHA:100044

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
annotated property: hasDbXref
annotated target: ICD-11:8C20.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
annotated property: hasDbXref
annotated target: MONDO:0011674
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
annotated property: hasDbXref
annotated target: MeSH:C564703
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
annotated property: hasDbXref
annotated target: OMIM:606482
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
annotated property: hasDbXref
annotated target: UMLS:C1847902
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
alternative term: CMTDIC
definition: A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.2
has db xref: MONDO:0012012
has db xref: MeSH:C564257
has db xref: OMIM:608323
has db xref: UMLS:C1842237
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 35.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100045
notation: ORPHA:100045

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
annotated property: hasDbXref
annotated target: ICD-11:8C20.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
annotated property: hasDbXref
annotated target: MONDO:0012012
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
annotated property: hasDbXref
annotated target: MeSH:C564257
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
annotated property: hasDbXref
annotated target: OMIM:608323
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
annotated property: hasDbXref
annotated target: UMLS:C1842237
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90114
alternative term: CMTDID
definition: A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.2
has db xref: MONDO:0011909
has db xref: MeSH:C564333
has db xref: OMIM:607791
has db xref: UMLS:C1843075
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 12.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100046
notation: ORPHA:100046

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
annotated property: hasDbXref
annotated target: ICD-11:8C20.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
annotated property: hasDbXref
annotated target: MONDO:0011909
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
annotated property: hasDbXref
annotated target: MeSH:C564333
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
annotated property: hasDbXref
annotated target: OMIM:607791
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
annotated property: hasDbXref
annotated target: UMLS:C1843075
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Isolated esophageal duplication cyst
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91357
definition: A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.
definition citation: Orphanet
has db xref: ICD-10:Q39.8
has db xref: ICD-11:LB12.Y
has db xref: MONDO:0015050
has db xref: UMLS:C4303524
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100047
notation: ORPHA:100047

Axiom
annotated source: Isolated esophageal duplication cyst
annotated property: hasDbXref
annotated target: ICD-10:Q39.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Isolated esophageal duplication cyst
annotated property: hasDbXref
annotated target: ICD-11:LB12.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Isolated esophageal duplication cyst
annotated property: hasDbXref
annotated target: MONDO:0015050
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Isolated esophageal duplication cyst
annotated property: hasDbXref
annotated target: UMLS:C4303524
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Isolated tubular duplication of the esophagus
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91357
definition: A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.
definition citation: Orphanet
has db xref: ICD-10:Q39.8
has db xref: ICD-11:LB12.Y
has db xref: MONDO:0015051
has db xref: UMLS:C4274729
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100048
notation: ORPHA:100048

Axiom
annotated source: Isolated tubular duplication of the esophagus
annotated property: hasDbXref
annotated target: ICD-10:Q39.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Isolated tubular duplication of the esophagus
annotated property: hasDbXref
annotated target: ICD-11:LB12.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Isolated tubular duplication of the esophagus
annotated property: hasDbXref
annotated target: MONDO:0015051
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Isolated tubular duplication of the esophagus
annotated property: hasDbXref
annotated target: UMLS:C4274729
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
type: Class
subclass of: Orphanet_264670
subclass of: Orphanet_264992
subclass of: Orphanet_557492
alternative term: Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
definition: A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.
definition citation: Orphanet
has db xref: UMLS:C5680383
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100049
notation: Category
notation: ORPHA:100049

Axiom
annotated source: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
annotated property: hasDbXref
annotated target: UMLS:C5680383
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hereditary angioedema type 1
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_528623
alternative term: HAE 1
alternative term: HAE-I
alternative term: Hereditary angioneurotic edema type 1
definition: A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: Orphanet
has db xref: ICD-10:D84.1
has db xref: ICD-11:4A00.14
has db xref: MONDO:0015053
has db xref: OMIM:106100
has_inheritance: Autosomal dominant
has_age_of_onset: All ages
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
present_in: Italy AND has_point_prevalence_average_value : 1.54 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100050
notation: Etiological subtype
notation: ORPHA:100050

Axiom
annotated source: Hereditary angioedema type 1
annotated property: hasDbXref
annotated target: ICD-10:D84.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hereditary angioedema type 1
annotated property: hasDbXref
annotated target: ICD-11:4A00.14
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hereditary angioedema type 1
annotated property: hasDbXref
annotated target: MONDO:0015053
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hereditary angioedema type 1
annotated property: hasDbXref
annotated target: OMIM:106100
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hereditary angioedema type 2
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_528623
alternative term: HAE 2
alternative term: HAE-II
alternative term: Hereditary angioneurotic edema type 2
definition: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: Orphanet
has db xref: ICD-10:D84.1
has db xref: ICD-11:4A00.14
has db xref: MONDO:0015054
has db xref: OMIM:106100
has db xref: UMLS:C0398776
has_inheritance: Autosomal dominant
has_age_of_onset: All ages
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100051
notation: Etiological subtype
notation: ORPHA:100051

Axiom
annotated source: Hereditary angioedema type 2
annotated property: hasDbXref
annotated target: ICD-10:D84.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hereditary angioedema type 2
annotated property: hasDbXref
annotated target: ICD-11:4A00.14
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hereditary angioedema type 2
annotated property: hasDbXref
annotated target: MONDO:0015054
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hereditary angioedema type 2
annotated property: hasDbXref
annotated target: OMIM:106100
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Hereditary angioedema type 2
annotated property: hasDbXref
annotated target: UMLS:C0398776
manual_assertion: E (Exact mapping: the two concepts are equivalent)

F12-related hereditary angioedema with normal C1Inh
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_528647
alternative term: F12-related HAE with normal C1 inhibitor
alternative term: HAE 3
alternative term: HAE-III
alternative term: Hereditary angioedema type 3
alternative term: Hereditary angioneurotic edema type 3
alternative term: Inherited estrogen-associated angioedema
alternative term: Inherited estrogen-associated angioneurotic edema
alternative term: Inherited estrogen-dependent angioedema
alternative term: Inherited estrogen-dependent angioneurotic edema
definition: A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).
definition citation: Orphanet
has db xref: ICD-10:T78.3
has db xref: ICD-11:4A00.14
has db xref: MONDO:0012526
has db xref: MeSH:D056828
has db xref: OMIM:610618
has db xref: UMLS:C1857728
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100054
notation: Clinical subtype
notation: ORPHA:100054

Axiom
annotated source: F12-related hereditary angioedema with normal C1Inh
annotated property: hasDbXref
annotated target: ICD-10:T78.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: F12-related hereditary angioedema with normal C1Inh
annotated property: hasDbXref
annotated target: ICD-11:4A00.14
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: F12-related hereditary angioedema with normal C1Inh
annotated property: hasDbXref
annotated target: MONDO:0012526
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: F12-related hereditary angioedema with normal C1Inh
annotated property: hasDbXref
annotated target: MeSH:D056828
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: F12-related hereditary angioedema with normal C1Inh
annotated property: hasDbXref
annotated target: OMIM:610618
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: F12-related hereditary angioedema with normal C1Inh
annotated property: hasDbXref
annotated target: UMLS:C1857728
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Acquired angioedema type 2
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_528663
alternative term: AAE 2
alternative term: AAE II
alternative term: Acquired angioneurotic edema type 2
definition: A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: Orphanet
has db xref: ICD-10:T78.3
has db xref: ICD-11:4A00.15
has db xref: MONDO:0015055
has db xref: UMLS:C5680381
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100055
notation: Clinical subtype
notation: ORPHA:100055

Axiom
annotated source: Acquired angioedema type 2
annotated property: hasDbXref
annotated target: ICD-10:T78.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Acquired angioedema type 2
annotated property: hasDbXref
annotated target: ICD-11:4A00.15
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Acquired angioedema type 2
annotated property: hasDbXref
annotated target: MONDO:0015055
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Acquired angioedema type 2
annotated property: hasDbXref
annotated target: UMLS:C5680381
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Acquired angioedema type 1
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_528663
alternative term: Acquired angioneurotic edema type 1
definition: A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: Orphanet
has db xref: ICD-10:T78.3
has db xref: ICD-11:4A00.15
has db xref: MONDO:0015056
has db xref: UMLS:C5680380
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100056
notation: Clinical subtype
notation: ORPHA:100056

Axiom
annotated source: Acquired angioedema type 1
annotated property: hasDbXref
annotated target: ICD-10:T78.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Acquired angioedema type 1
annotated property: hasDbXref
annotated target: ICD-11:4A00.15
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Acquired angioedema type 1
annotated property: hasDbXref
annotated target: MONDO:0015056
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Acquired angioedema type 1
annotated property: hasDbXref
annotated target: UMLS:C5680380
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Renin-angiotensin-aldosterone system-blocker-induced angioedema
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91385
alternative term: ACE inhibitor-related acquired angioedema
alternative term: ACEI-related acquired angioedema
alternative term: Acquired angioedema with normal C1 inhibitor
alternative term: Acquired angioedema with normal C1INH
alternative term: RAAS-blocker-induced angioedema
alternative term: RAAS-blocker-induced angioneurotic edema
alternative term: RAE
alternative term: Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
definition: Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
definition citation: Orphanet
has db xref: ICD-10:T78.3
has db xref: ICD-11:EH61.1
has db xref: MONDO:0015057
has db xref: OMIM:300909
has db xref: UMLS:C1268945
has_inheritance: Multigenic/multifactorial
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100057
notation: ORPHA:100057

Axiom
annotated source: Renin-angiotensin-aldosterone system-blocker-induced angioedema
annotated property: hasDbXref
annotated target: ICD-10:T78.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Renin-angiotensin-aldosterone system-blocker-induced angioedema
annotated property: hasDbXref
annotated target: ICD-11:EH61.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Renin-angiotensin-aldosterone system-blocker-induced angioedema
annotated property: hasDbXref
annotated target: MONDO:0015057
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Renin-angiotensin-aldosterone system-blocker-induced angioedema
annotated property: hasDbXref
annotated target: OMIM:300909
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Renin-angiotensin-aldosterone system-blocker-induced angioedema
annotated property: hasDbXref
annotated target: UMLS:C1268945
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Waterhouse-Friderichsen syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95409
has db xref: ICD-10:A39.1+
has db xref: ICD-10:E35.1*
has db xref: ICD-11:1C1C.1
has db xref: MONDO:0006015
has db xref: MeSH:D014884
has db xref: MedDRA:10047847
has db xref: UMLS:C1403891
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100067
notation: Clinical subtype
notation: ORPHA:100067

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: ICD-10:A39.1+
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: ICD-10:E35.1*
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: ICD-11:1C1C.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: MONDO:0006015
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: MeSH:D014884
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: MedDRA:10047847
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Waterhouse-Friderichsen syndrome
annotated property: hasDbXref
annotated target: UMLS:C1403891
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Semantic dementia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 282
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95432
alternative term: Semantic primary progressive aphasia
alternative term: Semantic variant PPA
definition: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
definition citation: Orphanet
has db xref: ICD-10:G31.0
has db xref: ICD-11:6D83
has db xref: MONDO:0010857
has db xref: OMIM:172700
has db xref: OMIM:600274
has db xref: UMLS:C0338462
has_inheritance: Multigenic/multifactorial
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 49.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100069
notation: ORPHA:100069

Axiom
annotated source: Semantic dementia
annotated property: hasDbXref
annotated target: ICD-10:G31.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Semantic dementia
annotated property: hasDbXref
annotated target: ICD-11:6D83
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Semantic dementia
annotated property: hasDbXref
annotated target: MONDO:0010857
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Semantic dementia
annotated property: hasDbXref
annotated target: OMIM:172700
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Semantic dementia
annotated property: hasDbXref
annotated target: OMIM:600274
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Semantic dementia
annotated property: hasDbXref
annotated target: UMLS:C0338462
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Progressive non-fluent aphasia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 282
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306708
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95432
alternative term: Agramatic variant of PPA
alternative term: Agramatic variant of primary progressive aphasia
alternative term: Non-fluent variant PPA
definition: Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
definition citation: Orphanet
has db xref: ICD-10:G31.0
has db xref: ICD-11:6D83
has db xref: MONDO:0015059
has db xref: MeSH:D057178
has db xref: MedDRA:10029542
has db xref: OMIM:172700
has db xref: OMIM:600274
has db xref: OMIM:607485
has db xref: UMLS:C0751706
has_inheritance: Multigenic/multifactorial
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Europe AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100070
notation: ORPHA:100070

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: ICD-10:G31.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: ICD-11:6D83
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: MONDO:0015059
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: MeSH:D057178
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: MedDRA:10029542
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: OMIM:172700
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: OMIM:600274
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: OMIM:607485
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Progressive non-fluent aphasia
annotated property: hasDbXref
annotated target: UMLS:C0751706
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Mosaic trisomy 3 syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98131
alternative term: Mosaic trisomy chromosome 3
alternative term: Trisomy 3 mosaicism
definition: Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
definition citation: Orphanet
has db xref: ICD-10:Q92.1
has db xref: ICD-11:LD40.Y
has db xref: MONDO:0015060
has db xref: UMLS:C4707012
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 6.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100071
notation: ORPHA:100071

Axiom
annotated source: Mosaic trisomy 3 syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q92.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Mosaic trisomy 3 syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD40.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Mosaic trisomy 3 syndrome
annotated property: hasDbXref
annotated target: MONDO:0015060
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Mosaic trisomy 3 syndrome
annotated property: hasDbXref
annotated target: UMLS:C4707012
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: True vascular thoracic outlet syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_97330
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Thoracic outlet syndrome
deprecated: true
notation: ORPHA:100072

Neurogenic thoracic outlet syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182086
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97330
alternative term: NTOS
alternative term: Neurogenic TOS
alternative term: Neurogenic cervical rib syndrome
alternative term: Neurogenic costoclavicular syndrome
alternative term: Neurogenic thoracic outlet compression syndrome
definition: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.
definition citation: Orphanet
has db xref: ICD-10:G54.0
has db xref: ICD-11:8B91.Y
has db xref: MONDO:0015061
has db xref: UMLS:C0751549
has_inheritance: Not applicable
has_age_of_onset: All ages
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100073
notation: Clinical subtype
notation: ORPHA:100073

Axiom
annotated source: Neurogenic thoracic outlet syndrome
annotated property: hasDbXref
annotated target: ICD-10:G54.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neurogenic thoracic outlet syndrome
annotated property: hasDbXref
annotated target: ICD-11:8B91.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neurogenic thoracic outlet syndrome
annotated property: hasDbXref
annotated target: MONDO:0015061
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neurogenic thoracic outlet syndrome
annotated property: hasDbXref
annotated target: UMLS:C0751549
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neuroendocrine tumor of stomach
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_63443
alternative term: GNET
alternative term: Gastric NET
alternative term: Gastric neuroendocrine tumor
alternative term: NET of stomach
definition: A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.
definition citation: Orphanet
has db xref: ICD-10:C16.9
has db xref: ICD-11:2B72.1
has db xref: MONDO:0003111
has db xref: UMLS:C1333783
has_inheritance: Not applicable
has_age_of_onset: Adult
has_age_of_onset: Elderly
present_in: Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Japan AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United Kingdom AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United States AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100075
notation: ORPHA:100075

Axiom
annotated source: Neuroendocrine tumor of stomach
annotated property: hasDbXref
annotated target: ICD-10:C16.9
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neuroendocrine tumor of stomach
annotated property: hasDbXref
annotated target: ICD-11:2B72.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Neuroendocrine tumor of stomach
annotated property: hasDbXref
annotated target: MONDO:0003111
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine tumor of stomach
annotated property: hasDbXref
annotated target: UMLS:C1333783
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Duodenal neuroendocrine tumor
type: Class
subclass of: Orphanet_423975
subclass of: Orphanet_557492
has db xref: UMLS:C4525619
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100076
notation: Category
notation: ORPHA:100076

Axiom
annotated source: Duodenal neuroendocrine tumor
annotated property: hasDbXref
annotated target: UMLS:C4525619
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Jejunal neuroendocrine tumor
type: Class
subclass of: Orphanet_423975
subclass of: Orphanet_557492
alternative term: Jejunal neuroendocrine neoplasm
definition: Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
definition citation: Orphanet
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100077
notation: Category
notation: ORPHA:100077

Ileal neuroendocrine tumor
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423975
alternative term: Ileal neuroendocrine neoplasm
definition: Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
definition citation: Orphanet
has db xref: ICD-10:C17.2
has db xref: ICD-11:2B80.11
has db xref: MONDO:0015065
has db xref: UMLS:C4081841
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100078
notation: ORPHA:100078

Axiom
annotated source: Ileal neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-10:C17.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ileal neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-11:2B80.11
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ileal neuroendocrine tumor
annotated property: hasDbXref
annotated target: MONDO:0015065
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ileal neuroendocrine tumor
annotated property: hasDbXref
annotated target: UMLS:C4081841
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neuroendocrine neoplasm of appendix
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423982
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
alternative term: Appendiceal NEN
alternative term: Appendiceal neuroendocrine neoplasm
alternative term: NEN of appendix
definition: A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC).
definition citation: Orphanet
has db xref: ICD-10:C18.1
has db xref: ICD-10:D37.3
has db xref: ICD-11:2B81.2
has db xref: MONDO:0015066
has db xref: MONDO:15066
has db xref: UMLS:C1879718
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100079
notation: ORPHA:100079

Axiom
annotated source: Neuroendocrine neoplasm of appendix
annotated property: hasDbXref
annotated target: ICD-10:C18.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neuroendocrine neoplasm of appendix
annotated property: hasDbXref
annotated target: ICD-10:D37.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neuroendocrine neoplasm of appendix
annotated property: hasDbXref
annotated target: ICD-11:2B81.2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Neuroendocrine neoplasm of appendix
annotated property: hasDbXref
annotated target: MONDO:0015066
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine neoplasm of appendix
annotated property: hasDbXref
annotated target: MONDO:15066
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine neoplasm of appendix
annotated property: hasDbXref
annotated target: UMLS:C1879718
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neuroendocrine tumor of the colon
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423991
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
alternative term: Colonic NET
alternative term: NET of the colon
alternative term: Neuroendocrine neoplasm of the colon
definition: A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
definition citation: Orphanet
has db xref: ICD-10:C18.8
has db xref: ICD-11:2B90.Y
has db xref: MONDO:0002882
has db xref: UMLS:C1333097
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100080
notation: ORPHA:100080

Axiom
annotated source: Neuroendocrine tumor of the colon
annotated property: hasDbXref
annotated target: ICD-10:C18.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neuroendocrine tumor of the colon
annotated property: hasDbXref
annotated target: ICD-11:2B90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Neuroendocrine tumor of the colon
annotated property: hasDbXref
annotated target: MONDO:0002882
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine tumor of the colon
annotated property: hasDbXref
annotated target: UMLS:C1333097
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neuroendocrine tumor of the rectum
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423998
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
alternative term: NET of the rectum
alternative term: Rectal NET
alternative term: Rectal neuroendocrine tumor
definition: Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.
definition citation: Orphanet
has db xref: ICD-10:C20
has db xref: ICD-11:2B92.1
has db xref: MONDO:0003646
has db xref: MedDRA:10085767
has db xref: UMLS:C5554035
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100081
notation: ORPHA:100081

Axiom
annotated source: Neuroendocrine tumor of the rectum
annotated property: hasDbXref
annotated target: ICD-10:C20
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neuroendocrine tumor of the rectum
annotated property: hasDbXref
annotated target: ICD-11:2B92.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Neuroendocrine tumor of the rectum
annotated property: hasDbXref
annotated target: MONDO:0003646
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine tumor of the rectum
annotated property: hasDbXref
annotated target: MedDRA:10085767
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine tumor of the rectum
annotated property: hasDbXref
annotated target: UMLS:C5554035
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neuroendocrine tumor of anal canal
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_424010
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481508
alternative term: NET of anal canal
definition: A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).
definition citation: Orphanet
has db xref: ICD-10:C21.1
has db xref: ICD-11:2C00.2
has db xref: MONDO:0015069
has db xref: UMLS:C3272849
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100082
notation: ORPHA:100082

Axiom
annotated source: Neuroendocrine tumor of anal canal
annotated property: hasDbXref
annotated target: ICD-10:C21.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neuroendocrine tumor of anal canal
annotated property: hasDbXref
annotated target: ICD-11:2C00.2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Neuroendocrine tumor of anal canal
annotated property: hasDbXref
annotated target: MONDO:0015069
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neuroendocrine tumor of anal canal
annotated property: hasDbXref
annotated target: UMLS:C3272849
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Laryngeal neuroendocrine tumor
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98061
definition: A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.
definition citation: Orphanet
has db xref: ICD-10:C32.1
has db xref: ICD-11:2F00.2
has db xref: MONDO:0015070
has db xref: UMLS:C5681809
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100083
notation: ORPHA:100083

Axiom
annotated source: Laryngeal neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-10:C32.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Laryngeal neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-11:2F00.2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Laryngeal neuroendocrine tumor
annotated property: hasDbXref
annotated target: MONDO:0015070
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Laryngeal neuroendocrine tumor
annotated property: hasDbXref
annotated target: UMLS:C5681809
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Middle ear neuroendocrine tumor
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98061
definition: Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.
definition citation: Orphanet
has db xref: ICD-10:C30.1
has db xref: ICD-11:2F00.0
has db xref: MONDO:0015071
has db xref: UMLS:C4305468
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100084
notation: ORPHA:100084

Axiom
annotated source: Middle ear neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-10:C30.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Middle ear neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-11:2F00.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Middle ear neuroendocrine tumor
annotated property: hasDbXref
annotated target: MONDO:0015071
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Middle ear neuroendocrine tumor
annotated property: hasDbXref
annotated target: UMLS:C4305468
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Primary hepatic neuroendocrine carcinoma
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_424933
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_506210
definition: Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
definition citation: Orphanet
has db xref: ICD-10:C22.7
has db xref: MONDO:0015072
has db xref: UMLS:C3273031
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Worldwide AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100085
notation: ORPHA:100085

Axiom
annotated source: Primary hepatic neuroendocrine carcinoma
annotated property: hasDbXref
annotated target: ICD-10:C22.7
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Primary hepatic neuroendocrine carcinoma
annotated property: hasDbXref
annotated target: MONDO:0015072
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Primary hepatic neuroendocrine carcinoma
annotated property: hasDbXref
annotated target: UMLS:C3273031
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Gallbladder neuroendocrine tumor
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Neuroendocrine tumor with other location
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306633
definition: A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.
definition citation: Orphanet
has db xref: ICD-10:C23
has db xref: ICD-11:2C13.Y
has db xref: UMLS:C3273115
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100086
notation: ORPHA:100086

Axiom
annotated source: Gallbladder neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-10:C23
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Gallbladder neuroendocrine tumor
annotated property: hasDbXref
annotated target: ICD-11:2C13.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Gallbladder neuroendocrine tumor
annotated property: hasDbXref
annotated target: UMLS:C3273115
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare thyroid tumor
type: Class
subclass of: Rare thyroid disease
subclass of: Orphanet_182130
subclass of: Orphanet_557492
has db xref: UMLS:C5816813
present_in: Europe AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000
present_in: France AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Italy AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Worldwide AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100087
notation: Category
notation: ORPHA:100087

Axiom
annotated source: Rare thyroid tumor
annotated property: hasDbXref
annotated target: UMLS:C5816813
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare thyroid carcinoma
type: Class
subclass of: Rare thyroid tumor
subclass of: Orphanet_557492
has db xref: UMLS:C5816697
has_age_of_onset: Adult
present_in: Austria AND has_annual_incidence_average_value : 7.679 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Belgium AND has_annual_incidence_average_value : 3.74 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Bulgaria AND has_annual_incidence_average_value : 2.921 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Croatia AND has_annual_incidence_average_value : 8.329 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Czech Republic AND has_annual_incidence_average_value : 6.382 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Estonia AND has_annual_incidence_average_value : 4.803 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Europe AND has_annual_incidence_average_value : 3.65 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Europe AND has_lifetime_prevalence_average_value : 61.7 AND has_lifetime_prevalence_range : 6-9 / 10 000
present_in: Finland AND has_annual_incidence_average_value : 6.375 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Germany AND has_annual_incidence_average_value : 5.526 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Ireland AND has_annual_incidence_average_value : 2.45 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Italy AND has_annual_incidence_average_value : 12.86 AND has_annual_incidence_range : 1-5 / 10 000
present_in: Latvia AND has_annual_incidence_average_value : 4.563 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Lithuania AND has_annual_incidence_average_value : 7.905 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Malta AND has_annual_incidence_average_value : 6.344 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Netherlands AND has_annual_incidence_average_value : 2.373 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Norway AND has_annual_incidence_average_value : 4.472 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Poland AND has_annual_incidence_average_value : 4.488 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Portugal AND has_annual_incidence_average_value : 8.628 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Slovakia AND has_annual_incidence_average_value : 3.991 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Slovenia AND has_annual_incidence_average_value : 5.649 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Spain AND has_annual_incidence_average_value : 5.162 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Switzerland AND has_annual_incidence_average_value : 6.39 AND has_annual_incidence_range : 1-9 / 100 000
present_in: United Kingdom AND has_annual_incidence_average_value : 2.733 AND has_annual_incidence_range : 1-9 / 100 000
present_in: United States AND has_annual_incidence_average_value : 12.2 AND has_annual_incidence_range : 1-5 / 10 000
present_in: Worldwide AND has_annual_incidence_average_value : 3.1 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100088
notation: Category
notation: ORPHA:100088

Axiom
annotated source: Rare thyroid carcinoma
annotated property: hasDbXref
annotated target: UMLS:C5816697
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare parathyroid tumor
type: Class
subclass of: Orphanet_182130
subclass of: Orphanet_557492
subclass of: Orphanet_68415
has db xref: UMLS:C5681807
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100090
notation: Category
notation: ORPHA:100090

Axiom
annotated source: Rare parathyroid tumor
annotated property: hasDbXref
annotated target: UMLS:C5681807
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Adrenal/paraganglial tumor
type: Class
subclass of: Rare adrenal disease
subclass of: Orphanet_182130
subclass of: Orphanet_557492
has db xref: UMLS:C5681806
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100091
notation: Category
notation: ORPHA:100091

Axiom
annotated source: Adrenal/paraganglial tumor
annotated property: hasDbXref
annotated target: UMLS:C5681806
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Gastroenteropancreatic neuroendocrine neoplasm
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet 877
alternative term: GEP-NEN
has db xref: UMLS:C1333799
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100092
notation: Category
notation: ORPHA:100092

Axiom
annotated source: Gastroenteropancreatic neuroendocrine neoplasm
annotated property: hasDbXref
annotated target: UMLS:C1333799
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Carcinoid syndrome
type: Class
subclass of: Orphanet_377792
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 877
alternative term: Malignant carcinoid syndrome
definition: A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.
definition citation: Orphanet
has db xref: ICD-10:E34.0
has db xref: ICD-11:5B10
has db xref: MONDO:0100347
has db xref: MeSH:D008303
has db xref: MedDRA:10007270
has db xref: UMLS:C0024586
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100093
notation: ORPHA:100093

Axiom
annotated source: Carcinoid syndrome
annotated property: hasDbXref
annotated target: ICD-10:E34.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Carcinoid syndrome
annotated property: hasDbXref
annotated target: ICD-11:5B10
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Carcinoid syndrome
annotated property: hasDbXref
annotated target: MONDO:0100347
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Carcinoid syndrome
annotated property: hasDbXref
annotated target: MeSH:D008303
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Carcinoid syndrome
annotated property: hasDbXref
annotated target: MedDRA:10007270
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Carcinoid syndrome
annotated property: hasDbXref
annotated target: UMLS:C0024586
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Multiple polyglandular tumor
type: Class
subclass of: Polyendocrinopathy
subclass of: Orphanet_182130
subclass of: Orphanet_183643
subclass of: Orphanet_271847
subclass of: Orphanet_557492
has db xref: ICD-11:2F7A.0
has db xref: MONDO:0015079
has db xref: UMLS:C5848154
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100094
notation: Category
notation: ORPHA:100094

Axiom
annotated source: Multiple polyglandular tumor
annotated property: hasDbXref
annotated target: ICD-11:2F7A.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Multiple polyglandular tumor
annotated property: hasDbXref
annotated target: MONDO:0015079
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple polyglandular tumor
annotated property: hasDbXref
annotated target: UMLS:C5848154
manual_assertion: E (Exact mapping: the two concepts are equivalent)

2q37 microdeletion syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_262010
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498454
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: Albright hereditary osteodystrophy type 3
alternative term: Albright hereditary osteodystrophy-like syndrome
alternative term: Brachydactyly-intellectual disability syndrome
alternative term: Del(2)(q37)
alternative term: Deletion 2q37
alternative term: Monosomy 2q37qter
definition: A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.
definition citation: Orphanet
has db xref: ICD-10:Q93.5
has db xref: ICD-11:LD44.20
has db xref: MONDO:0010886
has db xref: MeSH:C538317
has db xref: OMIM:600430
has db xref: UMLS:C2931817
has_inheritance: Autosomal dominant
has_inheritance: Not applicable
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 115.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1001
notation: ORPHA:1001

Axiom
annotated source: 2q37 microdeletion syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q93.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: 2q37 microdeletion syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD44.20
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: 2q37 microdeletion syndrome
annotated property: hasDbXref
annotated target: MONDO:0010886
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: 2q37 microdeletion syndrome
annotated property: hasDbXref
annotated target: MeSH:C538317
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: 2q37 microdeletion syndrome
annotated property: hasDbXref
annotated target: OMIM:600430
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: 2q37 microdeletion syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931817
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Thymic tumor
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98057
has db xref: MONDO:0005197
has db xref: MeSH:D013953
has db xref: MedDRA:10056296
has db xref: UMLS:C3714644
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100100
notation: Category
notation: ORPHA:100100

Axiom
annotated source: Thymic tumor
annotated property: hasDbXref
annotated target: MONDO:0005197
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Thymic tumor
annotated property: hasDbXref
annotated target: MeSH:D013953
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Thymic tumor
annotated property: hasDbXref
annotated target: MedDRA:10056296
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Thymic tumor
annotated property: hasDbXref
annotated target: UMLS:C3714644
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neuroendocrine tumor with other location
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet 877
has db xref: UMLS:C5681808
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100101
notation: Category
notation: ORPHA:100101

Axiom
annotated source: Neuroendocrine tumor with other location
annotated property: hasDbXref
annotated target: UMLS:C5681808
manual_assertion: E (Exact mapping: the two concepts are equivalent)

NON RARE IN EUROPE: Cluster headache
type: Class
subclass of: Orphanet C048
alternative term: NON RARE IN EUROPE: Ciliary neuralgia
alternative term: NON RARE IN EUROPE: Cluster migraine
alternative term: NON RARE IN EUROPE: Erythromelalgia of the head
alternative term: NON RARE IN EUROPE: Erythroprosopalgia of Bing
alternative term: NON RARE IN EUROPE: Histamine cephalalgia
alternative term: NON RARE IN EUROPE: Histamine headache
alternative term: NON RARE IN EUROPE: Histaminic cephalalgia
alternative term: NON RARE IN EUROPE: Horton headache
alternative term: NON RARE IN EUROPE: Migrainous neuralgia
alternative term: NON RARE IN EUROPE: Red migraine
reason for inactivation: This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases.
has db xref: ICD-10:G44.0
deprecated: true
notation: ORPHA:1002

Axiom
annotated source: NON RARE IN EUROPE: Cluster headache
annotated property: hasDbXref
annotated target: ICD-10:G44.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Scalp defects-postaxial polydactyly syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294959
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
definition: A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.
definition citation: Orphanet
has db xref: ICD-10:Q87.2
has db xref: MONDO:0008403
has db xref: MeSH:C536622
has db xref: OMIM:181250
has db xref: UMLS:C4511971
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1003
notation: ORPHA:1003

Axiom
annotated source: Scalp defects-postaxial polydactyly syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Scalp defects-postaxial polydactyly syndrome
annotated property: hasDbXref
annotated target: MONDO:0008403
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Scalp defects-postaxial polydactyly syndrome
annotated property: hasDbXref
annotated target: MeSH:C536622
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Scalp defects-postaxial polydactyly syndrome
annotated property: hasDbXref
annotated target: OMIM:181250
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Scalp defects-postaxial polydactyly syndrome
annotated property: hasDbXref
annotated target: UMLS:C4511971
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Alopecia-contractures-dwarfism-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
alternative term: ACD-intellectual disability syndrome
definition: A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0008754
has db xref: MeSH:C537051
has db xref: OMIM:203550
has db xref: UMLS:C4303742
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 5.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1005
notation: ORPHA:1005

Axiom
annotated source: Alopecia-contractures-dwarfism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Alopecia-contractures-dwarfism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Alopecia-contractures-dwarfism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0008754
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-contractures-dwarfism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C537051
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-contractures-dwarfism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: OMIM:203550
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-contractures-dwarfism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C4303742
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Alopecia antibody deficiency
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Immunodeficiency predominantly affecting antibody production
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79364
alternative term: Ipp-Gelfand syndrome
definition: A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.
definition citation: Orphanet
has db xref: ICD-10:D80.8
has db xref: MONDO:0015082
has db xref: UMLS:C5190867
has_inheritance: Unknown
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1006
notation: ORPHA:1006

Axiom
annotated source: Alopecia antibody deficiency
annotated property: hasDbXref
annotated target: ICD-10:D80.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Alopecia antibody deficiency
annotated property: hasDbXref
annotated target: MONDO:0015082
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia antibody deficiency
annotated property: hasDbXref
annotated target: UMLS:C5190867
manual_assertion: E (Exact mapping: the two concepts are equivalent)

NON RARE IN EUROPE: Gonorrhea
type: Class
subclass of: Orphanet C048
reason for inactivation: This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases.
deprecated: true
notation: ORPHA:100642

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481771
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79364
alternative term: Shokeir syndrome
definition: A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD90.Y
has db xref: MONDO:0007085
has db xref: MeSH:C537057
has db xref: OMIM:104130
has db xref: UMLS:C1863090
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 12.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1008
notation: ORPHA:1008

Axiom
annotated source: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0007085
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C537057
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
annotated property: hasDbXref
annotated target: OMIM:104130
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C1863090
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Porphyria due to ALA dehydratase deficiency
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95157
alternative term: ALAD porphyria
alternative term: Porphyria due to ALAD deficiency
alternative term: Porphyria due to delta-aminolevulinate dehydratase deficiency
alternative term: Porphyria of Doss
definition: A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms.
definition citation: Orphanet
has db xref: ICD-10:E80.2
has db xref: ICD-11:5C58.1Y
has db xref: MONDO:0013000
has db xref: OMIM:612740
has db xref: UMLS:C0268328
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100924
notation: ORPHA:100924

Axiom
annotated source: Porphyria due to ALA dehydratase deficiency
annotated property: hasDbXref
annotated target: ICD-10:E80.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Porphyria due to ALA dehydratase deficiency
annotated property: hasDbXref
annotated target: ICD-11:5C58.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Porphyria due to ALA dehydratase deficiency
annotated property: hasDbXref
annotated target: MONDO:0013000
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Porphyria due to ALA dehydratase deficiency
annotated property: hasDbXref
annotated target: OMIM:612740
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Porphyria due to ALA dehydratase deficiency
annotated property: hasDbXref
annotated target: UMLS:C0268328
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Nuclear oculomotor paralysis
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_519349
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare ophthalmic disorder with cranial nerve involvement
deprecated: true
notation: ORPHA:100932

FRAXE intellectual disability
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
alternative term: Intellectual disability associated with fragile site FRAXE
definition: A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
definition citation: Orphanet
has db xref: ICD-10:Q99.2
has db xref: ICD-11:LD90.Y
has db xref: MONDO:0010659
has db xref: OMIM:309548
has db xref: UMLS:C4274328
has_inheritance: X-linked recessive
has_age_of_onset: Antenatal
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Europe AND has_point_prevalence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100973
notation: ORPHA:100973

Axiom
annotated source: FRAXE intellectual disability
annotated property: hasDbXref
annotated target: ICD-10:Q99.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: FRAXE intellectual disability
annotated property: hasDbXref
annotated target: ICD-11:LD90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: FRAXE intellectual disability
annotated property: hasDbXref
annotated target: MONDO:0010659
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: FRAXE intellectual disability
annotated property: hasDbXref
annotated target: OMIM:309548
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: FRAXE intellectual disability
annotated property: hasDbXref
annotated target: UMLS:C4274328
manual_assertion: E (Exact mapping: the two concepts are equivalent)

FRAXF syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
definition: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
definition citation: Orphanet
has db xref: ICD-10:Q99.2
has db xref: MONDO:0015084
has db xref: UMLS:C4274329
has_inheritance: Unknown
has_age_of_onset: Antenatal
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100974
notation: ORPHA:100974

Axiom
annotated source: FRAXF syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q99.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: FRAXF syndrome
annotated property: hasDbXref
annotated target: MONDO:0015084
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: FRAXF syndrome
annotated property: hasDbXref
annotated target: UMLS:C4274329
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Bathing suit ichthyosis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_281097
alternative term: BSI
definition: Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
definition citation: Orphanet
has db xref: ICD-10:Q80.2
has db xref: ICD-11:EC20.02
has db xref: MONDO:0015085
has db xref: OMIM:242300
has db xref: UMLS:C4511230
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 20.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100976
notation: ORPHA:100976

Axiom
annotated source: Bathing suit ichthyosis
annotated property: hasDbXref
annotated target: ICD-10:Q80.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Bathing suit ichthyosis
annotated property: hasDbXref
annotated target: ICD-11:EC20.02
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Bathing suit ichthyosis
annotated property: hasDbXref
annotated target: MONDO:0015085
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bathing suit ichthyosis
annotated property: hasDbXref
annotated target: OMIM:242300
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Bathing suit ichthyosis
annotated property: hasDbXref
annotated target: UMLS:C4511230
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139393
alternative term: Benallegue-Lacete syndrome
definition: A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.
definition citation: Orphanet
has db xref: ICD-10:Q87.5
has db xref: ICD-11:LD24.GY
has db xref: MONDO:0015086
has db xref: UMLS:C5190852
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/100978
notation: ORPHA:100978

Axiom
annotated source: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD24.GY
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
annotated property: hasDbXref
annotated target: MONDO:0015086
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
annotated property: hasDbXref
annotated target: UMLS:C5190852
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant complex spastic paraplegia
type: Class
subclass of: Complex hereditary spastic paraplegia
subclass of: Orphanet_557492
alternative term: Autosomal dominant complex HSP
alternative term: Autosomal dominant complex SPG
alternative term: Autosomal dominant complicated HSP
alternative term: Autosomal dominant complicated SPG
alternative term: Autosomal dominant complicated spastic paraplegia
has db xref: MONDO:0015087
has db xref: UMLS:C5680379
has_inheritance: Autosomal dominant
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
present_in: Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100979
notation: Clinical group
notation: ORPHA:100979

Axiom
annotated source: Autosomal dominant complex spastic paraplegia
annotated property: hasDbXref
annotated target: MONDO:0015087
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant complex spastic paraplegia
annotated property: hasDbXref
annotated target: UMLS:C5680379
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant pure spastic paraplegia
type: Class
subclass of: Pure hereditary spastic paraplegia
subclass of: Orphanet_557492
alternative term: Autosomal dominant pure HSP
alternative term: Autosomal dominant pure SPG
alternative term: Autosomal dominant uncomplicated HSP
alternative term: Autosomal dominant uncomplicated SPG
alternative term: Autosomal dominant uncomplicated spastic paraplegia
has db xref: UMLS:C5680378
has_inheritance: Autosomal dominant
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
present_in: Ireland AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: Norway AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100980
notation: Clinical group
notation: ORPHA:100980

Axiom
annotated source: Autosomal dominant pure spastic paraplegia
annotated property: hasDbXref
annotated target: UMLS:C5680378
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive complex spastic paraplegia
type: Class
subclass of: Complex hereditary spastic paraplegia
subclass of: Orphanet_557492
alternative term: Autosomal recessive complex HSP
alternative term: Autosomal recessive complex SPG
alternative term: Autosomal recessive complicated HSP
alternative term: Autosomal recessive complicated SPG
alternative term: Autosomal recessive complicated spastic paraplegia
has db xref: UMLS:C5680377
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100981
notation: Clinical group
notation: ORPHA:100981

Axiom
annotated source: Autosomal recessive complex spastic paraplegia
annotated property: hasDbXref
annotated target: UMLS:C5680377
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive pure spastic paraplegia
type: Class
subclass of: Pure hereditary spastic paraplegia
subclass of: Orphanet_557492
alternative term: Autosomal recessive pure HSP
alternative term: Autosomal recessive pure SPG
alternative term: Autosomal recessive uncomplicated HSP
alternative term: Autosomal recessive uncomplicated SPG
alternative term: Autosomal recessive uncomplicated spastic paraplegia
has db xref: UMLS:C5680376
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100982
notation: Clinical group
notation: ORPHA:100982

Axiom
annotated source: Autosomal recessive pure spastic paraplegia
annotated property: hasDbXref
annotated target: UMLS:C5680376
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 3
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
alternative term: Autosomal dominant spastic paraplegia type 3A
alternative term: SPG3A
alternative term: Strümpell disease
definition: A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MeSH:C536864
has db xref: OMIM:182600
has db xref: UMLS:C2931355
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: Portugal AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100984
notation: ORPHA:100984

Axiom
annotated source: Autosomal dominant spastic paraplegia type 3
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 3
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 3
annotated property: hasDbXref
annotated target: MeSH:C536864
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 3
annotated property: hasDbXref
annotated target: OMIM:182600
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 3
annotated property: hasDbXref
annotated target: UMLS:C2931355
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 4
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
alternative term: SPG4
definition: A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0008438
has db xref: MeSH:C536865
has db xref: OMIM:182601
has db xref: UMLS:C1866855
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Portugal AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100985
notation: ORPHA:100985

Axiom
annotated source: Autosomal dominant spastic paraplegia type 4
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 4
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 4
annotated property: hasDbXref
annotated target: MONDO:0008438
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 4
annotated property: hasDbXref
annotated target: MeSH:C536865
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 4
annotated property: hasDbXref
annotated target: OMIM:182601
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 4
annotated property: hasDbXref
annotated target: UMLS:C1866855
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 5A
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
alternative term: SPG5A
definition: Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0010047
has db xref: MeSH:C564811
has db xref: OMIM:270800
has db xref: UMLS:C1849115
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100986
notation: ORPHA:100986

Axiom
annotated source: Autosomal recessive spastic paraplegia type 5A
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 5A
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 5A
annotated property: hasDbXref
annotated target: MONDO:0010047
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 5A
annotated property: hasDbXref
annotated target: MeSH:C564811
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 5A
annotated property: hasDbXref
annotated target: OMIM:270800
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 5A
annotated property: hasDbXref
annotated target: UMLS:C1849115
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 6
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
alternative term: SPG6
definition: A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0010878
has db xref: MeSH:C536866
has db xref: OMIM:600363
has db xref: UMLS:C1838192
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 10.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100988
notation: ORPHA:100988

Axiom
annotated source: Autosomal dominant spastic paraplegia type 6
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 6
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 6
annotated property: hasDbXref
annotated target: MONDO:0010878
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 6
annotated property: hasDbXref
annotated target: MeSH:C536866
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 6
annotated property: hasDbXref
annotated target: OMIM:600363
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 6
annotated property: hasDbXref
annotated target: UMLS:C1838192
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 8
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
alternative term: SPG8
definition: A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0011339
has db xref: MeSH:C580458
has db xref: OMIM:603563
has db xref: UMLS:C1863704
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 10.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100989
notation: ORPHA:100989

Axiom
annotated source: Autosomal dominant spastic paraplegia type 8
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 8
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 8
annotated property: hasDbXref
annotated target: MONDO:0011339
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 8
annotated property: hasDbXref
annotated target: MeSH:C580458
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 8
annotated property: hasDbXref
annotated target: OMIM:603563
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 8
annotated property: hasDbXref
annotated target: UMLS:C1863704
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Autosomal dominant spastic paraplegia type 9
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Autosomal dominant complex spastic paraplegia
alternative term: OBSOLETE: SPG9
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal dominant complex spastic paraplegia
deprecated: true
notation: ORPHA:100990

Autosomal dominant spastic paraplegia type 10
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
alternative term: SPG10
definition: A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0011408
has db xref: MeSH:C537482
has db xref: OMIM:604187
has db xref: UMLS:C1858712
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 10.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100991
notation: ORPHA:100991

Axiom
annotated source: Autosomal dominant spastic paraplegia type 10
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 10
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 10
annotated property: hasDbXref
annotated target: MONDO:0011408
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 10
annotated property: hasDbXref
annotated target: MeSH:C537482
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 10
annotated property: hasDbXref
annotated target: OMIM:604187
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 10
annotated property: hasDbXref
annotated target: UMLS:C1858712
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 12
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant pure spastic paraplegia
alternative term: SPG12
definition: A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0011489
has db xref: MeSH:C537484
has db xref: OMIM:604805
has db xref: UMLS:C1858106
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 27.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100993
notation: ORPHA:100993

Axiom
annotated source: Autosomal dominant spastic paraplegia type 12
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 12
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 12
annotated property: hasDbXref
annotated target: MONDO:0011489
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 12
annotated property: hasDbXref
annotated target: MeSH:C537484
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 12
annotated property: hasDbXref
annotated target: OMIM:604805
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 12
annotated property: hasDbXref
annotated target: UMLS:C1858106
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 13
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
alternative term: SPG13
definition: A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0011532
has db xref: MeSH:C537485
has db xref: OMIM:605280
has db xref: UMLS:C1854467
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 10.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100994
notation: ORPHA:100994

Axiom
annotated source: Autosomal dominant spastic paraplegia type 13
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 13
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 13
annotated property: hasDbXref
annotated target: MONDO:0011532
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 13
annotated property: hasDbXref
annotated target: MeSH:C537485
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 13
annotated property: hasDbXref
annotated target: OMIM:605280
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 13
annotated property: hasDbXref
annotated target: UMLS:C1854467
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 14
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
alternative term: SPG14
definition: Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0011522
has db xref: MeSH:C537486
has db xref: OMIM:605229
has db xref: UMLS:C1854568
has_inheritance: Autosomal recessive
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100995
notation: ORPHA:100995

Axiom
annotated source: Autosomal recessive spastic paraplegia type 14
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 14
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 14
annotated property: hasDbXref
annotated target: MONDO:0011522
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 14
annotated property: hasDbXref
annotated target: MeSH:C537486
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 14
annotated property: hasDbXref
annotated target: OMIM:605229
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 14
annotated property: hasDbXref
annotated target: UMLS:C1854568
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Kjellin syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_716427
alternative term: Autosomal recessive spastic paraplegia type 15
alternative term: Hereditary spastic paraparesis type 15
alternative term: SPG15
alternative term: Spastic paraplegia-retinal degeneration syndrome
definition: Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0010044
has db xref: MeSH:C536642
has db xref: OMIM:270700
has db xref: UMLS:C1849128
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 10.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100996
notation: ORPHA:100996

Axiom
annotated source: Kjellin syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Kjellin syndrome
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Kjellin syndrome
annotated property: hasDbXref
annotated target: MONDO:0010044
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Kjellin syndrome
annotated property: hasDbXref
annotated target: MeSH:C536642
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Kjellin syndrome
annotated property: hasDbXref
annotated target: OMIM:270700
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Kjellin syndrome
annotated property: hasDbXref
annotated target: UMLS:C1849128
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked spastic paraplegia type 16
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320350
alternative term: SPG16
definition: A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.02
has db xref: MONDO:0010287
has db xref: MeSH:C536643
has db xref: OMIM:300266
has db xref: UMLS:C1846046
has_inheritance: X-linked recessive
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100997
notation: ORPHA:100997

Axiom
annotated source: X-linked spastic paraplegia type 16
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked spastic paraplegia type 16
annotated property: hasDbXref
annotated target: ICD-11:8B44.02
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked spastic paraplegia type 16
annotated property: hasDbXref
annotated target: MONDO:0010287
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked spastic paraplegia type 16
annotated property: hasDbXref
annotated target: MeSH:C536643
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked spastic paraplegia type 16
annotated property: hasDbXref
annotated target: OMIM:300266
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked spastic paraplegia type 16
annotated property: hasDbXref
annotated target: UMLS:C1846046
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 17
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant complex spastic paraplegia
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_140465
alternative term: SPG17
alternative term: Silver syndrome
alternative term: Spastic paraplegia-amyotrophy of hands and feet
definition: A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0010043
has db xref: MeSH:C536644
has db xref: OMIM:270685
has db xref: UMLS:C2931276
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 20.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100998
notation: ORPHA:100998

Axiom
annotated source: Autosomal dominant spastic paraplegia type 17
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 17
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 17
annotated property: hasDbXref
annotated target: MONDO:0010043
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 17
annotated property: hasDbXref
annotated target: MeSH:C536644
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 17
annotated property: hasDbXref
annotated target: OMIM:270685
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 17
annotated property: hasDbXref
annotated target: UMLS:C2931276
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 19
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant pure spastic paraplegia
alternative term: SPG19
definition: A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0011785
has db xref: MeSH:C536856
has db xref: OMIM:607152
has db xref: UMLS:C1846685
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/100999
notation: ORPHA:100999

Axiom
annotated source: Autosomal dominant spastic paraplegia type 19
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 19
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 19
annotated property: hasDbXref
annotated target: MONDO:0011785
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 19
annotated property: hasDbXref
annotated target: MeSH:C536856
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 19
annotated property: hasDbXref
annotated target: OMIM:607152
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 19
annotated property: hasDbXref
annotated target: UMLS:C1846685
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Dentatorubral pallidoluysian atrophy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_158266
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94149
alternative term: DRPLA
alternative term: Dentatorubropallidoluysian atrophy
alternative term: Naito-Oyanagi disease
definition: A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
definition citation: Orphanet
has db xref: ICD-10:G11.8
has db xref: ICD-11:8A01.12
has db xref: MONDO:0007435
has db xref: MedDRA:10075298
has db xref: OMIM:125370
has db xref: UMLS:C0751781
has_inheritance: Autosomal dominant
has_age_of_onset: All ages
present_in: Europe AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: Japan AND has_point_prevalence_average_value : 0.48 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United Kingdom AND has_point_prevalence_average_value : 0.71 AND has_point_prevalence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101
notation: ORPHA:101

Axiom
annotated source: Dentatorubral pallidoluysian atrophy
annotated property: hasDbXref
annotated target: ICD-10:G11.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Dentatorubral pallidoluysian atrophy
annotated property: hasDbXref
annotated target: ICD-11:8A01.12
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Dentatorubral pallidoluysian atrophy
annotated property: hasDbXref
annotated target: MONDO:0007435
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Dentatorubral pallidoluysian atrophy
annotated property: hasDbXref
annotated target: MedDRA:10075298
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Dentatorubral pallidoluysian atrophy
annotated property: hasDbXref
annotated target: OMIM:125370
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Dentatorubral pallidoluysian atrophy
annotated property: hasDbXref
annotated target: UMLS:C0751781
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant palmoplantar keratoderma and congenital alopecia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98352
alternative term: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
alternative term: PPK-CA, Stevanovic type
alternative term: Palmoplantar keratoderma and congenital alopecia, Stevanovic type
definition: A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
definition citation: Orphanet
has db xref: ICD-10:Q82.8
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0007083
has db xref: OMIM:104100
has db xref: UMLS:C4304669
has_inheritance: Autosomal dominant
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 10.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1010
notation: ORPHA:1010

Axiom
annotated source: Autosomal dominant palmoplantar keratoderma and congenital alopecia
annotated property: hasDbXref
annotated target: ICD-10:Q82.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant palmoplantar keratoderma and congenital alopecia
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant palmoplantar keratoderma and congenital alopecia
annotated property: hasDbXref
annotated target: MONDO:0007083
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant palmoplantar keratoderma and congenital alopecia
annotated property: hasDbXref
annotated target: OMIM:104100
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant palmoplantar keratoderma and congenital alopecia
annotated property: hasDbXref
annotated target: UMLS:C4304669
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 20
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
alternative term: Childhood-onset spastic paraparesis-distal muscle wasting syndrome
alternative term: SPG20
alternative term: Troyer syndrome
definition: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0010156
has db xref: MeSH:C536858
has db xref: OMIM:275900
has db xref: UMLS:C0393559
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 36.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101000
notation: ORPHA:101000

Axiom
annotated source: Autosomal recessive spastic paraplegia type 20
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 20
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 20
annotated property: hasDbXref
annotated target: MONDO:0010156
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 20
annotated property: hasDbXref
annotated target: MeSH:C536858
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 20
annotated property: hasDbXref
annotated target: OMIM:275900
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 20
annotated property: hasDbXref
annotated target: UMLS:C0393559
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 21
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
alternative term: Mast syndrome
alternative term: SPG21
definition: Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0009568
has db xref: MeSH:C565409
has db xref: OMIM:248900
has db xref: UMLS:C1855346
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 35.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101001
notation: ORPHA:101001

Axiom
annotated source: Autosomal recessive spastic paraplegia type 21
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 21
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 21
annotated property: hasDbXref
annotated target: MONDO:0009568
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 21
annotated property: hasDbXref
annotated target: MeSH:C565409
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 21
annotated property: hasDbXref
annotated target: OMIM:248900
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 21
annotated property: hasDbXref
annotated target: UMLS:C1855346
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 23
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
alternative term: Lison syndrome
alternative term: SPG23
alternative term: Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
definition: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0010046
has db xref: MeSH:C536859
has db xref: OMIM:270750
has db xref: UMLS:C0796019
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 5.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101003
notation: ORPHA:101003

Axiom
annotated source: Autosomal recessive spastic paraplegia type 23
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 23
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 23
annotated property: hasDbXref
annotated target: MONDO:0010046
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 23
annotated property: hasDbXref
annotated target: MeSH:C536859
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 23
annotated property: hasDbXref
annotated target: OMIM:270750
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 23
annotated property: hasDbXref
annotated target: UMLS:C0796019
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 24
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive pure spastic paraplegia
alternative term: SPG24
definition: A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0011862
has db xref: MeSH:C564375
has db xref: OMIM:607584
has db xref: UMLS:C1843569
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101004
notation: ORPHA:101004

Axiom
annotated source: Autosomal recessive spastic paraplegia type 24
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 24
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 24
annotated property: hasDbXref
annotated target: MONDO:0011862
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 24
annotated property: hasDbXref
annotated target: MeSH:C564375
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 24
annotated property: hasDbXref
annotated target: OMIM:607584
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 24
annotated property: hasDbXref
annotated target: UMLS:C1843569
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 25
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
alternative term: Autosomal recessive spastic paraplegia-disc herniation syndrome
alternative term: SPG25
definition: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0011992
has db xref: MONDO:11992
has db xref: MeSH:C536861
has db xref: OMIM:608220
has db xref: UMLS:C2936860
has_inheritance: Autosomal recessive
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101005
notation: ORPHA:101005

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: MONDO:0011992
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: MONDO:11992
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: MeSH:C536861
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: OMIM:608220
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 25
annotated property: hasDbXref
annotated target: UMLS:C2936860
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 26
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive complex spastic paraplegia
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
alternative term: GM2 synthase deficiency
alternative term: SPG26
definition: Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0012213
has db xref: MeSH:C536862
has db xref: OMIM:609195
has db xref: UMLS:C1836632
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 10.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101006
notation: ORPHA:101006

Axiom
annotated source: Autosomal recessive spastic paraplegia type 26
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 26
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 26
annotated property: hasDbXref
annotated target: MONDO:0012213
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 26
annotated property: hasDbXref
annotated target: MeSH:C536862
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 26
annotated property: hasDbXref
annotated target: OMIM:609195
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 26
annotated property: hasDbXref
annotated target: UMLS:C1836632
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 27
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
alternative term: SPG27
definition: Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0012181
has db xref: MeSH:C563807
has db xref: OMIM:609041
has db xref: UMLS:C1836899
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 10.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101007
notation: ORPHA:101007

Axiom
annotated source: Autosomal recessive spastic paraplegia type 27
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 27
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 27
annotated property: hasDbXref
annotated target: MONDO:0012181
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 27
annotated property: hasDbXref
annotated target: MeSH:C563807
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 27
annotated property: hasDbXref
annotated target: OMIM:609041
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 27
annotated property: hasDbXref
annotated target: UMLS:C1836899
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive spastic paraplegia type 28
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive pure spastic paraplegia
alternative term: SPG28
definition: Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.01
has db xref: MONDO:0012256
has db xref: MeSH:C563732
has db xref: OMIM:609340
has db xref: UMLS:C1836295
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 7.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101008
notation: ORPHA:101008

Axiom
annotated source: Autosomal recessive spastic paraplegia type 28
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 28
annotated property: hasDbXref
annotated target: ICD-11:8B44.01
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive spastic paraplegia type 28
annotated property: hasDbXref
annotated target: MONDO:0012256
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 28
annotated property: hasDbXref
annotated target: MeSH:C563732
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 28
annotated property: hasDbXref
annotated target: OMIM:609340
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive spastic paraplegia type 28
annotated property: hasDbXref
annotated target: UMLS:C1836295
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 29
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal dominant complex spastic paraplegia
alternative term: SPG29
definition: A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0012334
has db xref: MeSH:C536863
has db xref: OMIM:609727
has db xref: UMLS:C1857855
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101009
notation: ORPHA:101009

Axiom
annotated source: Autosomal dominant spastic paraplegia type 29
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 29
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 29
annotated property: hasDbXref
annotated target: MONDO:0012334
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 29
annotated property: hasDbXref
annotated target: MeSH:C536863
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 29
annotated property: hasDbXref
annotated target: OMIM:609727
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 29
annotated property: hasDbXref
annotated target: UMLS:C1857855
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal spastic paraplegia type 30
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320346
alternative term: SPG30
definition: A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.0Y
has db xref: MONDO:0012476
has db xref: OMIM:610357
has db xref: UMLS:C5235139
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 3.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101010
notation: ORPHA:101010

Axiom
annotated source: Autosomal spastic paraplegia type 30
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal spastic paraplegia type 30
annotated property: hasDbXref
annotated target: ICD-11:8B44.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal spastic paraplegia type 30
annotated property: hasDbXref
annotated target: MONDO:0012476
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal spastic paraplegia type 30
annotated property: hasDbXref
annotated target: OMIM:610357
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal spastic paraplegia type 30
annotated property: hasDbXref
annotated target: UMLS:C5235139
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant spastic paraplegia type 31
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_320342
alternative term: SPG31
definition: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: ICD-11:8B44.00
has db xref: MONDO:0012453
has db xref: MeSH:C565210
has db xref: OMIM:610250
has db xref: UMLS:C1853247
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101011
notation: ORPHA:101011

Axiom
annotated source: Autosomal dominant spastic paraplegia type 31
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 31
annotated property: hasDbXref
annotated target: ICD-11:8B44.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal dominant spastic paraplegia type 31
annotated property: hasDbXref
annotated target: MONDO:0012453
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 31
annotated property: hasDbXref
annotated target: MeSH:C565210
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 31
annotated property: hasDbXref
annotated target: OMIM:610250
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant spastic paraplegia type 31
annotated property: hasDbXref
annotated target: UMLS:C1853247
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Romano-Ward syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 768
alternative term: Romano-Ward long QT syndrome
definition: A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
definition citation: Orphanet
has db xref: ICD-10:I45.8
has db xref: ICD-11:BC65.0
has db xref: MeSH:D029597
has db xref: MedDRA:10039211
has db xref: OMIM:192500
has db xref: OMIM:600919
has db xref: OMIM:603830
has db xref: OMIM:611818
has db xref: OMIM:611819
has db xref: OMIM:611820
has db xref: OMIM:612955
has db xref: OMIM:613485
has db xref: OMIM:613688
has db xref: OMIM:613693
has db xref: OMIM:613695
has db xref: OMIM:616247
has db xref: OMIM:616249
has db xref: OMIM:618782
has db xref: UMLS:C4551647
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_age_of_onset: All ages
present_in: Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101016
notation: ORPHA:101016

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: ICD-10:I45.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: ICD-11:BC65.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: MeSH:D029597
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: MedDRA:10039211
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:192500
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:600919
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:603830
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:611818
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:611819
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:611820
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:612955
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:613485
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:613688
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:613693
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:613695
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:616247
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:616249
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: OMIM:618782
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Romano-Ward syndrome
annotated property: hasDbXref
annotated target: UMLS:C4551647
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Mediterranean macrothrombocytopenia
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 2882
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia
has db xref: UMLS:C0272281
deprecated: true
notation: ORPHA:101022

Axiom
annotated source: Mediterranean macrothrombocytopenia
annotated property: hasDbXref
annotated target: UMLS:C0272281
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Cleft hard palate
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2014
has db xref: ICD-10:Q35.1
has db xref: ICD-11:LA42.0
has db xref: MONDO:0015092
has db xref: UMLS:C0432090
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101023
notation: ORPHA:101023

Axiom
annotated source: Cleft hard palate
annotated property: hasDbXref
annotated target: ICD-10:Q35.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Cleft hard palate
annotated property: hasDbXref
annotated target: ICD-11:LA42.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Cleft hard palate
annotated property: hasDbXref
annotated target: MONDO:0015092
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cleft hard palate
annotated property: hasDbXref
annotated target: UMLS:C0432090
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Transaldolase deficiency
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79186
alternative term: TALDO deficiency
definition: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
definition citation: Orphanet
has db xref: ICD-10:E74.8
has db xref: ICD-11:5C51.0
has db xref: MONDO:0011624
has db xref: MeSH:C563207
has db xref: OMIM:606003
has db xref: UMLS:C1291329
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 23.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101028
notation: ORPHA:101028

Axiom
annotated source: Transaldolase deficiency
annotated property: hasDbXref
annotated target: ICD-10:E74.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Transaldolase deficiency
annotated property: hasDbXref
annotated target: ICD-11:5C51.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Transaldolase deficiency
annotated property: hasDbXref
annotated target: MONDO:0011624
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Transaldolase deficiency
annotated property: hasDbXref
annotated target: MeSH:C563207
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Transaldolase deficiency
annotated property: hasDbXref
annotated target: OMIM:606003
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Transaldolase deficiency
annotated property: hasDbXref
annotated target: UMLS:C1291329
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Sub-cortical nodular heterotopia
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2149
has db xref: ICD-10:Q04.8
has db xref: ICD-11:LA05.5Y
has db xref: MONDO:0015093
has db xref: UMLS:C5681805
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101029
notation: Clinical subtype
notation: ORPHA:101029

Axiom
annotated source: Sub-cortical nodular heterotopia
annotated property: hasDbXref
annotated target: ICD-10:Q04.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Sub-cortical nodular heterotopia
annotated property: hasDbXref
annotated target: ICD-11:LA05.5Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Sub-cortical nodular heterotopia
annotated property: hasDbXref
annotated target: MONDO:0015093
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sub-cortical nodular heterotopia
annotated property: hasDbXref
annotated target: UMLS:C5681805
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Subependymal nodular heterotopia
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2149
has db xref: ICD-10:Q04.8
has db xref: ICD-11:LA05.5Y
has db xref: MONDO:0015094
has db xref: MedDRA:10071150
has db xref: UMLS:C3160906
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101030
notation: Clinical subtype
notation: ORPHA:101030

Axiom
annotated source: Subependymal nodular heterotopia
annotated property: hasDbXref
annotated target: ICD-10:Q04.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Subependymal nodular heterotopia
annotated property: hasDbXref
annotated target: ICD-11:LA05.5Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Subependymal nodular heterotopia
annotated property: hasDbXref
annotated target: MONDO:0015094
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Subependymal nodular heterotopia
annotated property: hasDbXref
annotated target: MedDRA:10071150
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Subependymal nodular heterotopia
annotated property: hasDbXref
annotated target: UMLS:C3160906
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Peters anomaly-cataract syndrome
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet 708
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Peters anomaly
deprecated: true
notation: ORPHA:101033

OBSOLETE: Zlotogura-Martinez syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet 3253
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome
deprecated: true
notation: ORPHA:101036

Female restricted epilepsy with intellectual disability
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet_714652
alternative term: EFMR
alternative term: Juberg-Hellman syndrome
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PCDH19 clustering epilepsy
has db xref: MONDO:0010246
has db xref: MeSH:C564715
has db xref: UMLS:C1848137
deprecated: true
notation: ORPHA:101039

Axiom
annotated source: Female restricted epilepsy with intellectual disability
annotated property: hasDbXref
annotated target: MONDO:0010246
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Female restricted epilepsy with intellectual disability
annotated property: hasDbXref
annotated target: MeSH:C564715
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Female restricted epilepsy with intellectual disability
annotated property: hasDbXref
annotated target: UMLS:C1848137
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Familial hypofibrinogenemia
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 335
has db xref: ICD-10:D68.2
has db xref: ICD-11:3B14.0
has db xref: MONDO:0015096
has db xref: OMIM:202400
has db xref: UMLS:C5681803
has_inheritance: Autosomal dominant
has_age_of_onset: All ages
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101041
notation: Clinical subtype
notation: ORPHA:101041

Axiom
annotated source: Familial hypofibrinogenemia
annotated property: hasDbXref
annotated target: ICD-10:D68.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Familial hypofibrinogenemia
annotated property: hasDbXref
annotated target: ICD-11:3B14.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Familial hypofibrinogenemia
annotated property: hasDbXref
annotated target: MONDO:0015096
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypofibrinogenemia
annotated property: hasDbXref
annotated target: OMIM:202400
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Familial hypofibrinogenemia
annotated property: hasDbXref
annotated target: UMLS:C5681803
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Taussig-Bing syndrome
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_99045
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Double outlet right ventricle with subpulmonary ventricular septal defect
deprecated: true
notation: ORPHA:101042

Congenital aortic valve dysplasia
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 3093
has db xref: ICD-10:Q23.0
has db xref: UMLS:C5397239
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101043
notation: Clinical subtype
notation: ORPHA:101043

Axiom
annotated source: Congenital aortic valve dysplasia
annotated property: hasDbXref
annotated target: ICD-10:Q23.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital aortic valve dysplasia
annotated property: hasDbXref
annotated target: UMLS:C5397239
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Epilepsy with auditory features
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_699645
alternative term: ADEAF
alternative term: ADLTE
alternative term: ADPEAF
alternative term: Autosomal dominant epilepsy with auditory features
alternative term: Autosomal dominant lateral temporal lobe epilepsy
alternative term: EAF
alternative term: Partial epilepsy with auditory aura
alternative term: Partial epilepsy with auditory features
definition: A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
definition citation: Orphanet
has db xref: ICD-10:G40.0
has db xref: ICD-11:8A61.3Y
has db xref: MONDO:0010898
has db xref: MeSH:C537297
has db xref: OMIM:600512
has db xref: OMIM:616436
has db xref: OMIM:616461
has db xref: UMLS:C1838062
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101046
notation: ORPHA:101046

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: ICD-10:G40.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: ICD-11:8A61.3Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: MONDO:0010898
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: MeSH:C537297
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: OMIM:600512
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: OMIM:616436
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: OMIM:616461
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Epilepsy with auditory features
annotated property: hasDbXref
annotated target: UMLS:C1838062
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Familial hypocalciuric hypercalcemia type 2
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 405
alternative term: FHH type 2
has db xref: ICD-10:E83.5
has db xref: ICD-11:5A51.2
has db xref: MONDO:0007792
has db xref: MeSH:C537146
has db xref: OMIM:145981
has db xref: UMLS:C1840347
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101049
notation: Etiological subtype
notation: ORPHA:101049

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 2
annotated property: hasDbXref
annotated target: ICD-10:E83.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 2
annotated property: hasDbXref
annotated target: ICD-11:5A51.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 2
annotated property: hasDbXref
annotated target: MONDO:0007792
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 2
annotated property: hasDbXref
annotated target: MeSH:C537146
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 2
annotated property: hasDbXref
annotated target: OMIM:145981
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 2
annotated property: hasDbXref
annotated target: UMLS:C1840347
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Familial hypocalciuric hypercalcemia type 3
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 405
alternative term: FHH type 3
has db xref: ICD-10:E83.5
has db xref: ICD-11:5A51.2
has db xref: MONDO:0010926
has db xref: MeSH:C537147
has db xref: OMIM:600740
has db xref: UMLS:C1833372
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101050
notation: Etiological subtype
notation: ORPHA:101050

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 3
annotated property: hasDbXref
annotated target: ICD-10:E83.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 3
annotated property: hasDbXref
annotated target: ICD-11:5A51.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 3
annotated property: hasDbXref
annotated target: MONDO:0010926
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 3
annotated property: hasDbXref
annotated target: MeSH:C537147
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 3
annotated property: hasDbXref
annotated target: OMIM:600740
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial hypocalciuric hypercalcemia type 3
annotated property: hasDbXref
annotated target: UMLS:C1833372
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Microlissencephaly type B
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Microlissencephaly
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Microlissencephaly
deprecated: true
notation: ORPHA:101052

Situs inversus totalis
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_271853
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 450
alternative term: Complete situs inversus
alternative term: Complete situs inversus viscerum
alternative term: Situs inversus
definition: A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.
definition citation: Orphanet
has db xref: ICD-10:Q89.3
has db xref: ICD-11:LA82
has db xref: MONDO:0010029
has db xref: MONDO:10029
has db xref: UMLS:C0037221
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101063
notation: ORPHA:101063

Axiom
annotated source: Situs inversus totalis
annotated property: hasDbXref
annotated target: ICD-10:Q89.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Situs inversus totalis
annotated property: hasDbXref
annotated target: ICD-11:LA82
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Situs inversus totalis
annotated property: hasDbXref
annotated target: MONDO:0010029
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Situs inversus totalis
annotated property: hasDbXref
annotated target: MONDO:10029
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Situs inversus totalis
annotated property: hasDbXref
annotated target: UMLS:C0037221
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital stromal corneal dystrophy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98626
alternative term: CSCD
alternative term: Congenital hereditary stromal dystrophy
alternative term: Witschel dystrophy
definition: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
definition citation: Orphanet
has db xref: ICD-10:H18.5
has db xref: ICD-11:9A70.Y
has db xref: MONDO:0012401
has db xref: MeSH:C566452
has db xref: OMIM:610048
has db xref: UMLS:C1864738
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 6.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101068
notation: ORPHA:101068

Axiom
annotated source: Congenital stromal corneal dystrophy
annotated property: hasDbXref
annotated target: ICD-10:H18.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital stromal corneal dystrophy
annotated property: hasDbXref
annotated target: ICD-11:9A70.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital stromal corneal dystrophy
annotated property: hasDbXref
annotated target: MONDO:0012401
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital stromal corneal dystrophy
annotated property: hasDbXref
annotated target: MeSH:C566452
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital stromal corneal dystrophy
annotated property: hasDbXref
annotated target: OMIM:610048
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital stromal corneal dystrophy
annotated property: hasDbXref
annotated target: UMLS:C1864738
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Bilateral frontoparietal polymicrogyria
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268940
definition: Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LA05.50
has db xref: MONDO:0011738
has db xref: MeSH:C564652
has db xref: OMIM:606854
has db xref: UMLS:C1847352
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101070
notation: Clinical subtype
notation: ORPHA:101070

Axiom
annotated source: Bilateral frontoparietal polymicrogyria
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Bilateral frontoparietal polymicrogyria
annotated property: hasDbXref
annotated target: ICD-11:LA05.50
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Bilateral frontoparietal polymicrogyria
annotated property: hasDbXref
annotated target: MONDO:0011738
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bilateral frontoparietal polymicrogyria
annotated property: hasDbXref
annotated target: MeSH:C564652
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bilateral frontoparietal polymicrogyria
annotated property: hasDbXref
annotated target: OMIM:606854
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bilateral frontoparietal polymicrogyria
annotated property: hasDbXref
annotated target: UMLS:C1847352
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Unilateral hemispheric polymicrogyria
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268943
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LA05.50
has db xref: MONDO:0015099
has db xref: UMLS:C5681804
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101071
notation: Clinical subtype
notation: ORPHA:101071

Axiom
annotated source: Unilateral hemispheric polymicrogyria
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Unilateral hemispheric polymicrogyria
annotated property: hasDbXref
annotated target: ICD-11:LA05.50
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Unilateral hemispheric polymicrogyria
annotated property: hasDbXref
annotated target: MONDO:0015099
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Unilateral hemispheric polymicrogyria
annotated property: hasDbXref
annotated target: UMLS:C5681804
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked Charcot-Marie-Tooth disease type 1
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
alternative term: CMT1X
alternative term: CMTX1
definition: A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.0
has db xref: MONDO:0010549
has db xref: MeSH:C535919
has db xref: OMIM:302800
has db xref: UMLS:C0393808
has_inheritance: X-linked dominant
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101075
notation: ORPHA:101075

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 1
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 1
annotated property: hasDbXref
annotated target: ICD-11:8C20.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 1
annotated property: hasDbXref
annotated target: MONDO:0010549
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 1
annotated property: hasDbXref
annotated target: MeSH:C535919
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 1
annotated property: hasDbXref
annotated target: OMIM:302800
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 1
annotated property: hasDbXref
annotated target: UMLS:C0393808
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked Charcot-Marie-Tooth disease type 2
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
alternative term: CMTX2
definition: A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:LD90.Y
has db xref: MONDO:0010550
has db xref: MeSH:C535302
has db xref: OMIM:302801
has db xref: UMLS:C1844873
has_inheritance: X-linked recessive
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 5.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101076
notation: ORPHA:101076

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 2
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 2
annotated property: hasDbXref
annotated target: ICD-11:LD90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 2
annotated property: hasDbXref
annotated target: MONDO:0010550
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 2
annotated property: hasDbXref
annotated target: MeSH:C535302
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 2
annotated property: hasDbXref
annotated target: OMIM:302801
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 2
annotated property: hasDbXref
annotated target: UMLS:C1844873
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked Charcot-Marie-Tooth disease type 3
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
alternative term: CMT3X
alternative term: CMTX3
definition: A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:LD90.Y
has db xref: MONDO:0010551
has db xref: MeSH:C535303
has db xref: OMIM:302802
has db xref: UMLS:C1844865
has_inheritance: X-linked recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 4.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101077
notation: ORPHA:101077

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 3
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 3
annotated property: hasDbXref
annotated target: ICD-11:LD90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 3
annotated property: hasDbXref
annotated target: MONDO:0010551
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 3
annotated property: hasDbXref
annotated target: MeSH:C535303
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 3
annotated property: hasDbXref
annotated target: OMIM:302802
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 3
annotated property: hasDbXref
annotated target: UMLS:C1844865
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked Charcot-Marie-Tooth disease type 4
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_64747
alternative term: CMT4X
alternative term: CMTX4
alternative term: Cowchock syndrome
definition: A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:LD90.Y
has db xref: MONDO:0010689
has db xref: MeSH:C536450
has db xref: OMIM:310490
has db xref: UMLS:C0795910
has_inheritance: X-linked recessive
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 7.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101078
notation: ORPHA:101078

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 4
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 4
annotated property: hasDbXref
annotated target: ICD-11:LD90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 4
annotated property: hasDbXref
annotated target: MONDO:0010689
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 4
annotated property: hasDbXref
annotated target: MeSH:C536450
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 4
annotated property: hasDbXref
annotated target: OMIM:310490
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Charcot-Marie-Tooth disease type 4
annotated property: hasDbXref
annotated target: UMLS:C0795910
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 1A
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_262803
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
alternative term: CMT1A
alternative term: Microduplication 17p12
has db xref: ICD-10:G60.0
has db xref: ICD-11:LD41.G1
has db xref: MONDO:0007309
has db xref: OMIM:118220
has db xref: UMLS:C0270911
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
present_in: Norway AND has_point_prevalence_average_value : 82.37 AND has_point_prevalence_range : 6-9 / 10 000
present_in: United Kingdom AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Worldwide AND has_point_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101081
notation: ORPHA:101081

Axiom
annotated source: Charcot-Marie-Tooth disease type 1A
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1A
annotated property: hasDbXref
annotated target: ICD-11:LD41.G1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1A
annotated property: hasDbXref
annotated target: MONDO:0007309
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1A
annotated property: hasDbXref
annotated target: OMIM:118220
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1A
annotated property: hasDbXref
annotated target: UMLS:C0270911
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 1B
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
alternative term: CMT1B
definition: Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1, caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome, or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.0
has db xref: MONDO:0007307
has db xref: OMIM:118200
has db xref: UMLS:C0270912
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101082
notation: ORPHA:101082

Axiom
annotated source: Charcot-Marie-Tooth disease type 1B
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1B
annotated property: hasDbXref
annotated target: ICD-11:8C20.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1B
annotated property: hasDbXref
annotated target: MONDO:0007307
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1B
annotated property: hasDbXref
annotated target: OMIM:118200
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1B
annotated property: hasDbXref
annotated target: UMLS:C0270912
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 1C
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
alternative term: CMT1C
definition: A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.0
has db xref: MONDO:0010995
has db xref: MeSH:C537984
has db xref: OMIM:601098
has db xref: UMLS:C0270913
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101083
notation: ORPHA:101083

Axiom
annotated source: Charcot-Marie-Tooth disease type 1C
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1C
annotated property: hasDbXref
annotated target: ICD-11:8C20.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1C
annotated property: hasDbXref
annotated target: MONDO:0010995
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1C
annotated property: hasDbXref
annotated target: MeSH:C537984
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1C
annotated property: hasDbXref
annotated target: OMIM:601098
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1C
annotated property: hasDbXref
annotated target: UMLS:C0270913
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 1D
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
alternative term: CMT1D
definition: Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.0
has db xref: MONDO:0011890
has db xref: MeSH:C537985
has db xref: OMIM:607678
has db xref: UMLS:C1843247
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101084
notation: ORPHA:101084

Axiom
annotated source: Charcot-Marie-Tooth disease type 1D
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1D
annotated property: hasDbXref
annotated target: ICD-11:8C20.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1D
annotated property: hasDbXref
annotated target: MONDO:0011890
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1D
annotated property: hasDbXref
annotated target: MeSH:C537985
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1D
annotated property: hasDbXref
annotated target: OMIM:607678
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1D
annotated property: hasDbXref
annotated target: UMLS:C1843247
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 1F
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_65753
alternative term: CMT1F
definition: Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.0
has db xref: MONDO:0011902
has db xref: MeSH:C537987
has db xref: OMIM:607734
has db xref: UMLS:C1843164
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101085
notation: ORPHA:101085

Axiom
annotated source: Charcot-Marie-Tooth disease type 1F
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1F
annotated property: hasDbXref
annotated target: ICD-11:8C20.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 1F
annotated property: hasDbXref
annotated target: MONDO:0011902
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1F
annotated property: hasDbXref
annotated target: MeSH:C537987
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1F
annotated property: hasDbXref
annotated target: OMIM:607734
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Charcot-Marie-Tooth disease type 1F
annotated property: hasDbXref
annotated target: UMLS:C1843164
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked hyper-IgM syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183663
alternative term: HIGM1
alternative term: Hyper-IgM syndrome due to CD40 ligand deficiency
alternative term: Hyper-IgM syndrome due to CD40L deficiency
alternative term: Hyper-IgM syndrome type 1
alternative term: XHIGM
has db xref: ICD-10:D80.5
has db xref: ICD-11:4A01.1Y
has db xref: MONDO:0010626
has db xref: MeSH:D053307
has db xref: OMIM:308230
has db xref: UMLS:C0398689
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101088
notation: Clinical subtype
notation: ORPHA:101088

Axiom
annotated source: X-linked hyper-IgM syndrome
annotated property: hasDbXref
annotated target: ICD-10:D80.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked hyper-IgM syndrome
annotated property: hasDbXref
annotated target: ICD-11:4A01.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked hyper-IgM syndrome
annotated property: hasDbXref
annotated target: MONDO:0010626
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked hyper-IgM syndrome
annotated property: hasDbXref
annotated target: MeSH:D053307
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked hyper-IgM syndrome
annotated property: hasDbXref
annotated target: OMIM:308230
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked hyper-IgM syndrome
annotated property: hasDbXref
annotated target: UMLS:C0398689
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hyper-IgM syndrome type 2
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183666
alternative term: AID deficiency
alternative term: Activation-induced cytidine deaminase deficiency
alternative term: HIGM2
has db xref: ICD-10:D80.5
has db xref: ICD-11:4A01.05
has db xref: MONDO:0011528
has db xref: OMIM:605258
has db xref: UMLS:C1720956
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101089
notation: Clinical subtype
notation: ORPHA:101089

Axiom
annotated source: Hyper-IgM syndrome type 2
annotated property: hasDbXref
annotated target: ICD-10:D80.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hyper-IgM syndrome type 2
annotated property: hasDbXref
annotated target: ICD-11:4A01.05
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hyper-IgM syndrome type 2
annotated property: hasDbXref
annotated target: MONDO:0011528
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 2
annotated property: hasDbXref
annotated target: OMIM:605258
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 2
annotated property: hasDbXref
annotated target: UMLS:C1720956
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hyper-IgM syndrome type 3
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183663
alternative term: HIGM3
alternative term: Hyper-IgM syndrome due to CD40 deficiency
has db xref: ICD-10:D80.5
has db xref: ICD-11:4A01.1Y
has db xref: MONDO:0011735
has db xref: OMIM:606843
has db xref: UMLS:C1720957
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101090
notation: Clinical subtype
notation: ORPHA:101090

Axiom
annotated source: Hyper-IgM syndrome type 3
annotated property: hasDbXref
annotated target: ICD-10:D80.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hyper-IgM syndrome type 3
annotated property: hasDbXref
annotated target: ICD-11:4A01.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hyper-IgM syndrome type 3
annotated property: hasDbXref
annotated target: MONDO:0011735
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 3
annotated property: hasDbXref
annotated target: OMIM:606843
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 3
annotated property: hasDbXref
annotated target: UMLS:C1720957
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hyper-IgM syndrome type 4
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183666
alternative term: HIGM4
has db xref: ICD-10:D80.5
has db xref: ICD-11:4A01.1Y
has db xref: MONDO:0011985
has db xref: MeSH:C564277
has db xref: OMIM:608184
has db xref: UMLS:C1842413
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101091
notation: Clinical subtype
notation: ORPHA:101091

Axiom
annotated source: Hyper-IgM syndrome type 4
annotated property: hasDbXref
annotated target: ICD-10:D80.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hyper-IgM syndrome type 4
annotated property: hasDbXref
annotated target: ICD-11:4A01.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hyper-IgM syndrome type 4
annotated property: hasDbXref
annotated target: MONDO:0011985
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 4
annotated property: hasDbXref
annotated target: MeSH:C564277
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 4
annotated property: hasDbXref
annotated target: OMIM:608184
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 4
annotated property: hasDbXref
annotated target: UMLS:C1842413
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hyper-IgM syndrome type 5
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183666
alternative term: HIGM5
alternative term: Hyper-IgM syndrome due to UNG deficiency
alternative term: Hyper-IgM syndrome due to uracil N-glycosylase
has db xref: ICD-10:D80.5
has db xref: ICD-11:4A01.05
has db xref: MONDO:0011971
has db xref: OMIM:608106
has db xref: UMLS:C1720958
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101092
notation: Clinical subtype
notation: ORPHA:101092

Axiom
annotated source: Hyper-IgM syndrome type 5
annotated property: hasDbXref
annotated target: ICD-10:D80.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hyper-IgM syndrome type 5
annotated property: hasDbXref
annotated target: ICD-11:4A01.05
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hyper-IgM syndrome type 5
annotated property: hasDbXref
annotated target: MONDO:0011971
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 5
annotated property: hasDbXref
annotated target: OMIM:608106
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hyper-IgM syndrome type 5
annotated property: hasDbXref
annotated target: UMLS:C1720958
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Aregenerative anemia
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_52688
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Myelodysplastic syndrome
deprecated: true
notation: ORPHA:101096

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91024
alternative term: ARCMT2K
alternative term: Autosomal recessive axonal CMT4C4
alternative term: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
definition: A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.1
has db xref: MONDO:0011916
has db xref: MONDO:11916
has db xref: MeSH:C535418
has db xref: OMIM:607706
has db xref: OMIM:607831
has db xref: UMLS:C1842983
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101097
notation: ORPHA:101097

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: ICD-11:8C20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: MONDO:0011916
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: MONDO:11916
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: MeSH:C535418
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: OMIM:607706
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: OMIM:607831
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
annotated property: hasDbXref
annotated target: UMLS:C1842983
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Alopecia-hypogonadism-extrapyramidal syndrome
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 3464
alternative term: Devriendt-Legius-Fryns syndrome
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woodhouse-Sakati syndrome
has db xref: MeSH:C537053
has db xref: UMLS:C2931406
deprecated: true
notation: ORPHA:1011

Axiom
annotated source: Alopecia-hypogonadism-extrapyramidal syndrome
annotated property: hasDbXref
annotated target: MeSH:C537053
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-hypogonadism-extrapyramidal syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931406
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 2B2
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91024
alternative term: AR-CMT2B2
alternative term: Autosomal recessive axonal CMT4C3
alternative term: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
definition: Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.1
has db xref: MONDO:0011570
has db xref: MeSH:C537991
has db xref: OMIM:605589
has db xref: UMLS:C1854150
has_inheritance: Autosomal recessive
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101101
notation: ORPHA:101101

Axiom
annotated source: Charcot-Marie-Tooth disease type 2B2
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 2B2
annotated property: hasDbXref
annotated target: ICD-11:8C20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 2B2
annotated property: hasDbXref
annotated target: MONDO:0011570
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 2B2
annotated property: hasDbXref
annotated target: MeSH:C537991
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 2B2
annotated property: hasDbXref
annotated target: OMIM:605589
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 2B2
annotated property: hasDbXref
annotated target: UMLS:C1854150
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Charcot-Marie-Tooth disease type 2H
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91024
alternative term: AR-CMT2C
alternative term: Autosomal recessive axonal CMT4C2
alternative term: Axonal Charcot-Marie-Tooth disease with pyramidal involvement
alternative term: CMT2H
definition: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
definition citation: Orphanet
has db xref: ICD-10:G60.0
has db xref: ICD-11:8C20.1
has db xref: MONDO:0011901
has db xref: MeSH:C535415
has db xref: OMIM:607731
has db xref: UMLS:C1843173
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 13.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101102
notation: ORPHA:101102

Axiom
annotated source: Charcot-Marie-Tooth disease type 2H
annotated property: hasDbXref
annotated target: ICD-10:G60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Charcot-Marie-Tooth disease type 2H
annotated property: hasDbXref
annotated target: ICD-11:8C20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Charcot-Marie-Tooth disease type 2H
annotated property: hasDbXref
annotated target: MONDO:0011901
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 2H
annotated property: hasDbXref
annotated target: MeSH:C535415
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 2H
annotated property: hasDbXref
annotated target: OMIM:607731
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Charcot-Marie-Tooth disease type 2H
annotated property: hasDbXref
annotated target: UMLS:C1843173
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Marin-Amat syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_91412
has db xref: ICD-10:Q07.8
has db xref: ICD-11:9A03.00
has db xref: MONDO:0015101
has db xref: UMLS:C5681802
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101104
notation: Clinical subtype
notation: ORPHA:101104

Axiom
annotated source: Marin-Amat syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q07.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Marin-Amat syndrome
annotated property: hasDbXref
annotated target: ICD-11:9A03.00
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Marin-Amat syndrome
annotated property: hasDbXref
annotated target: MONDO:0015101
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Marin-Amat syndrome
annotated property: hasDbXref
annotated target: UMLS:C5681802
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Non-secreting chemodectoma
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_94080
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-functioning paraganglioma
deprecated: true
notation: ORPHA:101106

Spinocerebellar ataxia type 22
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet_98772
alternative term: SCA22
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 19/22
has db xref: MeSH:C542540
has db xref: UMLS:C2746067
deprecated: true
notation: ORPHA:101107

Axiom
annotated source: Spinocerebellar ataxia type 22
annotated property: hasDbXref
annotated target: MeSH:C542540
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 22
annotated property: hasDbXref
annotated target: UMLS:C2746067
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Spinocerebellar ataxia type 23
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
alternative term: SCA23
definition: Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
definition citation: Orphanet
has db xref: ICD-10:G11.2
has db xref: ICD-11:8A03.16
has db xref: MONDO:0012449
has db xref: MeSH:C537201
has db xref: OMIM:610245
has db xref: UMLS:C1853250
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 4.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101108
notation: ORPHA:101108

Axiom
annotated source: Spinocerebellar ataxia type 23
annotated property: hasDbXref
annotated target: ICD-10:G11.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spinocerebellar ataxia type 23
annotated property: hasDbXref
annotated target: ICD-11:8A03.16
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Spinocerebellar ataxia type 23
annotated property: hasDbXref
annotated target: MONDO:0012449
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 23
annotated property: hasDbXref
annotated target: MeSH:C537201
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 23
annotated property: hasDbXref
annotated target: OMIM:610245
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 23
annotated property: hasDbXref
annotated target: UMLS:C1853250
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Spinocerebellar ataxia type 28
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_35696
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
alternative term: SCA28
definition: Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: ICD-11:8A03.16
has db xref: MONDO:0012450
has db xref: MeSH:C537205
has db xref: OMIM:610246
has db xref: UMLS:C1853249
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101109
notation: ORPHA:101109

Axiom
annotated source: Spinocerebellar ataxia type 28
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spinocerebellar ataxia type 28
annotated property: hasDbXref
annotated target: ICD-11:8A03.16
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Spinocerebellar ataxia type 28
annotated property: hasDbXref
annotated target: MONDO:0012450
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 28
annotated property: hasDbXref
annotated target: MeSH:C537205
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 28
annotated property: hasDbXref
annotated target: OMIM:610246
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 28
annotated property: hasDbXref
annotated target: UMLS:C1853249
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Spinocerebellar ataxia type 20
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
alternative term: SCA20
definition: Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
definition citation: Orphanet
has db xref: ICD-10:G11.2
has db xref: ICD-11:8A03.16
has db xref: MONDO:0012098
has db xref: MeSH:C537199
has db xref: OMIM:608687
has db xref: UMLS:C1837541
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 20.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101110
notation: ORPHA:101110

Axiom
annotated source: Spinocerebellar ataxia type 20
annotated property: hasDbXref
annotated target: ICD-10:G11.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spinocerebellar ataxia type 20
annotated property: hasDbXref
annotated target: ICD-11:8A03.16
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Spinocerebellar ataxia type 20
annotated property: hasDbXref
annotated target: MONDO:0012098
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 20
annotated property: hasDbXref
annotated target: MeSH:C537199
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 20
annotated property: hasDbXref
annotated target: OMIM:608687
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 20
annotated property: hasDbXref
annotated target: UMLS:C1837541
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Spinocerebellar ataxia type 25
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
alternative term: SCA25
definition: Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
definition citation: Orphanet
has db xref: ICD-10:G11.8
has db xref: ICD-11:8A03.16
has db xref: MONDO:0012103
has db xref: MeSH:C537202
has db xref: OMIM:608703
has db xref: UMLS:C1837518
has_inheritance: Autosomal dominant
has_age_of_onset: All ages
present_in: Worldwide AND has_cases/families_value : 10.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101111
notation: ORPHA:101111

Axiom
annotated source: Spinocerebellar ataxia type 25
annotated property: hasDbXref
annotated target: ICD-10:G11.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spinocerebellar ataxia type 25
annotated property: hasDbXref
annotated target: ICD-11:8A03.16
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Spinocerebellar ataxia type 25
annotated property: hasDbXref
annotated target: MONDO:0012103
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 25
annotated property: hasDbXref
annotated target: MeSH:C537202
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 25
annotated property: hasDbXref
annotated target: OMIM:608703
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 25
annotated property: hasDbXref
annotated target: UMLS:C1837518
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Spinocerebellar ataxia type 26
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94148
alternative term: SCA26
definition: A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
definition citation: Orphanet
has db xref: ICD-10:G11.2
has db xref: ICD-11:8A03.16
has db xref: MONDO:0012246
has db xref: MeSH:C537203
has db xref: OMIM:609306
has db xref: UMLS:C1836395
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101112
notation: ORPHA:101112

Axiom
annotated source: Spinocerebellar ataxia type 26
annotated property: hasDbXref
annotated target: ICD-10:G11.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spinocerebellar ataxia type 26
annotated property: hasDbXref
annotated target: ICD-11:8A03.16
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Spinocerebellar ataxia type 26
annotated property: hasDbXref
annotated target: MONDO:0012246
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 26
annotated property: hasDbXref
annotated target: MeSH:C537203
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 26
annotated property: hasDbXref
annotated target: OMIM:609306
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia type 26
annotated property: hasDbXref
annotated target: UMLS:C1836395
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive dopa-responsive dystonia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 255
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284818
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
alternative term: Autosomal recessive Segawa syndrome
alternative term: DYT5b
alternative term: Tyrosine hydroxylase deficiency
alternative term: Tyrosine hydroxylase-deficient dopa-responsive dystonia
definition: A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
definition citation: Orphanet
has db xref: ICD-10:G24.1
has db xref: ICD-11:8A02.11
has db xref: MONDO:0011551
has db xref: MeSH:C537537
has db xref: OMIM:605407
has db xref: UMLS:C5700309
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Europe AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: Worldwide AND has_cases/families_value : 50.0 (Case(s))
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101150
notation: ORPHA:101150

Axiom
annotated source: Autosomal recessive dopa-responsive dystonia
annotated property: hasDbXref
annotated target: ICD-10:G24.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive dopa-responsive dystonia
annotated property: hasDbXref
annotated target: ICD-11:8A02.11
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Autosomal recessive dopa-responsive dystonia
annotated property: hasDbXref
annotated target: MONDO:0011551
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive dopa-responsive dystonia
annotated property: hasDbXref
annotated target: MeSH:C537537
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive dopa-responsive dystonia
annotated property: hasDbXref
annotated target: OMIM:605407
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive dopa-responsive dystonia
annotated property: hasDbXref
annotated target: UMLS:C5700309
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Dystonia 14
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet_98808
alternative term: DYT14
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant dopa-responsive dystonia
deprecated: true
notation: ORPHA:101151

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 982
alternative term: APV/ADA, Fallot type
alternative term: Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
alternative term: PVA/ADA, Fallot type
definition: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
definition citation: Orphanet
has db xref: ICD-10:Q22.2
has db xref: ICD-11:LA88.20
has db xref: MONDO:0015103
has db xref: UMLS:C4707896
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101206
notation: ORPHA:101206

Axiom
annotated source: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q22.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
annotated property: hasDbXref
annotated target: ICD-11:LA88.20
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
annotated property: hasDbXref
annotated target: MONDO:0015103
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
annotated property: hasDbXref
annotated target: UMLS:C4707896
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Porphyria cutanea tarda
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_659698
alternative term: PCT
definition: A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis.
definition citation: Orphanet
has db xref: ICD-10:E80.1
has db xref: ICD-11:5C58.10
has db xref: MONDO:0015104
has db xref: MeSH:D017119
has db xref: MedDRA:10036183
has db xref: OMIM:176090
has db xref: OMIM:176100
has db xref: UMLS:C0162566
has_inheritance: Autosomal dominant
has_inheritance: Multigenic/multifactorial
has_age_of_onset: Adult
present_in: Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Norway AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101330
notation: ORPHA:101330

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: ICD-10:E80.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: ICD-11:5C58.10
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: MONDO:0015104
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: MeSH:D017119
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: MedDRA:10036183
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: OMIM:176090
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: OMIM:176100
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Porphyria cutanea tarda
annotated property: hasDbXref
annotated target: UMLS:C0162566
manual_assertion: E (Exact mapping: the two concepts are equivalent)

African tick typhus
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Spotted fever rickettsiosis
definition: A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.
definition citation: Orphanet
has db xref: ICD-10:A77.1
has db xref: ICD-11:1C31.1
has db xref: UMLS:C1320317
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101334
notation: ORPHA:101334

Axiom
annotated source: African tick typhus
annotated property: hasDbXref
annotated target: ICD-10:A77.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: African tick typhus
annotated property: hasDbXref
annotated target: ICD-11:1C31.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: African tick typhus
annotated property: hasDbXref
annotated target: UMLS:C1320317
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Indian tick typhus
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_83313
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever
deprecated: true
notation: ORPHA:101335

OBSOLETE: Kenya tick typhus
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_83313
alternative term: OBSOLETE: Kenya tick-bite fever
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever
deprecated: true
notation: ORPHA:101336

OBSOLETE: Marseilles fever
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_83313
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever
deprecated: true
notation: ORPHA:101337

OBSOLETE: Mediterranean spotted fever
type: Class
subclass of: Orphanet C053
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_83313
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever
deprecated: true
notation: ORPHA:101338

Familial isolated congenital asplenia
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_331193
definition: Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
definition citation: Orphanet
has db xref: ICD-10:Q89.0
has db xref: ICD-11:LB22.0
has db xref: MONDO:0010066
has db xref: OMIM:271400
has db xref: UMLS:C4512055
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101351
notation: ORPHA:101351

Axiom
annotated source: Familial isolated congenital asplenia
annotated property: hasDbXref
annotated target: ICD-10:Q89.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Familial isolated congenital asplenia
annotated property: hasDbXref
annotated target: ICD-11:LB22.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Familial isolated congenital asplenia
annotated property: hasDbXref
annotated target: MONDO:0010066
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial isolated congenital asplenia
annotated property: hasDbXref
annotated target: OMIM:271400
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Familial isolated congenital asplenia
annotated property: hasDbXref
annotated target: UMLS:C4512055
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Syndrome with a central nervous system malformation as a major feature
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndrome with a central nervous system malformation as a major feature
deprecated: true
notation: ORPHA:101356

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_481771
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79364
alternative term: Devriendt-Vandenberghe-Fryns syndrome
definition: A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0011019
has db xref: OMIM:601217
has db xref: UMLS:C4303740
has_inheritance: Unknown
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1014
notation: ORPHA:1014

Axiom
annotated source: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
annotated property: hasDbXref
annotated target: MONDO:0011019
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
annotated property: hasDbXref
annotated target: OMIM:601217
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
annotated property: hasDbXref
annotated target: UMLS:C4303740
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare urogenital disease
type: Class
subclass of: Orphanet_557492
has db xref: UMLS:C5681790
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101433
notation: Category
notation: Head of classification
notation: ORPHA:101433

Axiom
annotated source: Rare urogenital disease
annotated property: hasDbXref
annotated target: UMLS:C5681790
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare genetic eye disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98053
alternative term: Rare genetic ophthalmologic disease
has db xref: UMLS:C5680375
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101435
notation: Category
notation: ORPHA:101435

Axiom
annotated source: Rare genetic eye disease
annotated property: hasDbXref
annotated target: UMLS:C5680375
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare non-syndromic intellectual disability
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166472
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183757
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_87277
alternative term: Rare NSID
definition: Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.
definition citation: Orphanet
has db xref: ICD-10:F70
has db xref: ICD-10:F71
has db xref: ICD-10:F72
has db xref: ICD-10:F73
has db xref: MONDO:0015108
has db xref: UMLS:C4751233
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_inheritance: X-linked dominant
has_inheritance: X-linked recessive
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_annual_incidence_range : Unknown
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101685
notation: ORPHA:101685

Axiom
annotated source: Rare non-syndromic intellectual disability
annotated property: hasDbXref
annotated target: ICD-10:F70
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Rare non-syndromic intellectual disability
annotated property: hasDbXref
annotated target: ICD-10:F71
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Rare non-syndromic intellectual disability
annotated property: hasDbXref
annotated target: ICD-10:F72
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Rare non-syndromic intellectual disability
annotated property: hasDbXref
annotated target: ICD-10:F73
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Rare non-syndromic intellectual disability
annotated property: hasDbXref
annotated target: MONDO:0015108
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Rare non-syndromic intellectual disability
annotated property: hasDbXref
annotated target: UMLS:C4751233
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked Alport syndrome-diffuse leiomyomatosis
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_263756
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 63
alternative term: Xq22.3 microdeletion syndrome
definition: A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0010641
has db xref: OMIM:150700
has db xref: OMIM:308940
has db xref: UMLS:C4511693
has_inheritance: X-linked dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1018
notation: Clinical subtype
notation: ORPHA:1018

Axiom
annotated source: X-linked Alport syndrome-diffuse leiomyomatosis
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked Alport syndrome-diffuse leiomyomatosis
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked Alport syndrome-diffuse leiomyomatosis
annotated property: hasDbXref
annotated target: MONDO:0010641
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Alport syndrome-diffuse leiomyomatosis
annotated property: hasDbXref
annotated target: OMIM:150700
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: X-linked Alport syndrome-diffuse leiomyomatosis
annotated property: hasDbXref
annotated target: OMIM:308940
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked Alport syndrome-diffuse leiomyomatosis
annotated property: hasDbXref
annotated target: UMLS:C4511693
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Epstein syndrome
type: Class
subclass of: Orphanet C045
subclass of: Restriction
  on property: moved to
  some values from: Orphanet_182050
alternative term: Alport syndrome with macrothrombocytopenia
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease
has db xref: UMLS:C0398641
deprecated: true
notation: ORPHA:1019

Axiom
annotated source: Epstein syndrome
annotated property: hasDbXref
annotated target: UMLS:C0398641
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Anomaly of the mitral subvalvular apparatus
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_95464
definition: A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.
definition citation: Orphanet
has db xref: ICD-10:Q23.8
has db xref: ICD-11:LA87.13
has db xref: MONDO:0015109
has db xref: UMLS:C3164517
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101932
notation: ORPHA:101932

Axiom
annotated source: Anomaly of the mitral subvalvular apparatus
annotated property: hasDbXref
annotated target: ICD-10:Q23.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Anomaly of the mitral subvalvular apparatus
annotated property: hasDbXref
annotated target: ICD-11:LA87.13
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Anomaly of the mitral subvalvular apparatus
annotated property: hasDbXref
annotated target: MONDO:0015109
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anomaly of the mitral subvalvular apparatus
annotated property: hasDbXref
annotated target: UMLS:C3164517
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Genetic cardiac rhythm disease
type: Class
subclass of: Orphanet_218436
subclass of: Orphanet_557492
subclass of: Orphanet_98054
has db xref: UMLS:C5681782
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101934
notation: Category
notation: ORPHA:101934

Axiom
annotated source: Genetic cardiac rhythm disease
annotated property: hasDbXref
annotated target: UMLS:C5681782
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare gastroesophageal disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97935
has db xref: UMLS:C5681788
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101936
notation: Category
notation: ORPHA:101936

Axiom
annotated source: Rare gastroesophageal disease
annotated property: hasDbXref
annotated target: UMLS:C5681788
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare pancreatic disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97935
has db xref: UMLS:C5681789
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101937
notation: Category
notation: ORPHA:101937

Axiom
annotated source: Rare pancreatic disease
annotated property: hasDbXref
annotated target: UMLS:C5681789
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare vascular liver disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_57146
has db xref: UMLS:C5681786
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101938
notation: Category
notation: ORPHA:101938

Axiom
annotated source: Rare vascular liver disease
annotated property: hasDbXref
annotated target: UMLS:C5681786
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare parenchymal liver disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_57146
has db xref: UMLS:C5681787
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101939
notation: Category
notation: ORPHA:101939

Axiom
annotated source: Rare parenchymal liver disease
annotated property: hasDbXref
annotated target: UMLS:C5681787
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare metabolic liver disease
type: Class
subclass of: Orphanet_156601
subclass of: Orphanet_557492
subclass of: Orphanet_57146
has db xref: MedDRA:10019689
has db xref: UMLS:C5681784
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101940
notation: Category
notation: ORPHA:101940

Axiom
annotated source: Rare metabolic liver disease
annotated property: hasDbXref
annotated target: MedDRA:10019689
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Rare metabolic liver disease
annotated property: hasDbXref
annotated target: UMLS:C5681784
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare biliary tract disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_57146
has db xref: UMLS:C5681785
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101941
notation: Category
notation: ORPHA:101941

Axiom
annotated source: Rare biliary tract disease
annotated property: hasDbXref
annotated target: UMLS:C5681785
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare hepatic and biliary tract tumor
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_57146
subclass of: Orphanet_98059
has db xref: UMLS:C5681783
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101943
notation: Category
notation: ORPHA:101943

Axiom
annotated source: Rare hepatic and biliary tract tumor
annotated property: hasDbXref
annotated target: UMLS:C5681783
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare pulmonary disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97955
has db xref: UMLS:C5681796
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101944
notation: Category
notation: ORPHA:101944

Axiom
annotated source: Rare pulmonary disease
annotated property: hasDbXref
annotated target: UMLS:C5681796
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare bronchopulmonary and pleural cavity tumors
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98060
has db xref: UMLS:C5925054
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101945
notation: Category
notation: ORPHA:101945

Axiom
annotated source: Rare bronchopulmonary and pleural cavity tumors
annotated property: hasDbXref
annotated target: UMLS:C5925054
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Rare acquired eye disease
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_97966
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare ophthalmic disorder
deprecated: true
notation: ORPHA:101949

Rare eye tumor
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97966
subclass of: Orphanet_98057
has db xref: UMLS:C5681794
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101950
notation: Category
notation: ORPHA:101950

Axiom
annotated source: Rare eye tumor
annotated property: hasDbXref
annotated target: UMLS:C5681794
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare diabetes mellitus
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97978
has db xref: UMLS:C5681799
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101952
notation: Category
notation: ORPHA:101952

Axiom
annotated source: Rare diabetes mellitus
annotated property: hasDbXref
annotated target: UMLS:C5681799
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare dyslipidemia
type: Class
subclass of: Orphanet_156638
subclass of: Orphanet_309005
subclass of: Orphanet_557492
subclass of: Orphanet_97978
has db xref: UMLS:C5681798
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101953
notation: Category
notation: ORPHA:101953

Axiom
annotated source: Rare dyslipidemia
annotated property: hasDbXref
annotated target: UMLS:C5681798
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare adrenal disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97978
has db xref: UMLS:C5681801
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101954
notation: Category
notation: ORPHA:101954

Axiom
annotated source: Rare adrenal disease
annotated property: hasDbXref
annotated target: UMLS:C5681801
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare thyroid disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97978
has db xref: UMLS:C5681800
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101955
notation: Category
notation: ORPHA:101955

Axiom
annotated source: Rare thyroid disease
annotated property: hasDbXref
annotated target: UMLS:C5681800
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Polyendocrinopathy
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97978
has db xref: MONDO:0015126
has db xref: UMLS:C5681797
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101956
notation: Category
notation: ORPHA:101956

Axiom
annotated source: Polyendocrinopathy
annotated property: hasDbXref
annotated target: MONDO:0015126
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Polyendocrinopathy
annotated property: hasDbXref
annotated target: UMLS:C5681797
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Pituitary deficiency
type: Class
subclass of: Orphanet_181384
subclass of: Orphanet_183628
subclass of: Orphanet_557492
has db xref: ICD-10:E23.0
has db xref: ICD-11:5A61.0
has db xref: MONDO:0015127
has db xref: UMLS:C0020635
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101957
notation: Category
notation: ORPHA:101957

Axiom
annotated source: Pituitary deficiency
annotated property: hasDbXref
annotated target: ICD-10:E23.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Pituitary deficiency
annotated property: hasDbXref
annotated target: ICD-11:5A61.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Pituitary deficiency
annotated property: hasDbXref
annotated target: MONDO:0015127
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Pituitary deficiency
annotated property: hasDbXref
annotated target: UMLS:C0020635
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Primary adrenal insufficiency
type: Class
subclass of: Rare adrenal disease
subclass of: Orphanet_557492
has db xref: MONDO:0015128
has db xref: MedDRA:10052381
has db xref: UMLS:C3887896
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101958
notation: Category
notation: ORPHA:101958

Axiom
annotated source: Primary adrenal insufficiency
annotated property: hasDbXref
annotated target: MONDO:0015128
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Primary adrenal insufficiency
annotated property: hasDbXref
annotated target: MedDRA:10052381
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Primary adrenal insufficiency
annotated property: hasDbXref
annotated target: UMLS:C3887896
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Chronic primary adrenal insufficiency
type: Class
subclass of: Primary adrenal insufficiency
subclass of: Orphanet_557492
alternative term: CPAI
alternative term: Chronic adrenocorticoid insufficiency
definition: Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
definition citation: Orphanet
has db xref: MONDO:0015129
has db xref: UMLS:C5848257
has_inheritance: Multigenic/multifactorial
has_age_of_onset: All ages
present_in: Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101959
notation: Category
notation: ORPHA:101959

Axiom
annotated source: Chronic primary adrenal insufficiency
annotated property: hasDbXref
annotated target: MONDO:0015129
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Chronic primary adrenal insufficiency
annotated property: hasDbXref
annotated target: UMLS:C5848257
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Genetic chronic primary adrenal insufficiency
type: Class
subclass of: Chronic primary adrenal insufficiency
subclass of: Orphanet_183637
subclass of: Orphanet_557492
has db xref: UMLS:C5681791
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101960
notation: Category
notation: ORPHA:101960

Axiom
annotated source: Genetic chronic primary adrenal insufficiency
annotated property: hasDbXref
annotated target: UMLS:C5681791
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Acquired chronic primary adrenal insufficiency
type: Class
subclass of: Chronic primary adrenal insufficiency
subclass of: Orphanet_557492
has db xref: UMLS:C5681792
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101963
notation: Category
notation: ORPHA:101963

Axiom
annotated source: Acquired chronic primary adrenal insufficiency
annotated property: hasDbXref
annotated target: UMLS:C5681792
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Combined T and B cell immunodeficiency
type: Class
subclass of: Orphanet_179006
subclass of: Orphanet_557492
has db xref: ICD-10:D81
has db xref: ICD-11:4A01.1
has db xref: UMLS:C5681793
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101972
notation: Clinical group
notation: ORPHA:101972

Axiom
annotated source: Combined T and B cell immunodeficiency
annotated property: hasDbXref
annotated target: ICD-10:D81
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Combined T and B cell immunodeficiency
annotated property: hasDbXref
annotated target: ICD-11:4A01.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Combined T and B cell immunodeficiency
annotated property: hasDbXref
annotated target: UMLS:C5681793
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Immunodeficiency predominantly affecting antibody production
type: Class
subclass of: Orphanet_179006
subclass of: Orphanet_557492
has db xref: ICD-11:4A01.0
has db xref: UMLS:C5681776
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101977
notation: Category
notation: ORPHA:101977

Axiom
annotated source: Immunodeficiency predominantly affecting antibody production
annotated property: hasDbXref
annotated target: ICD-11:4A01.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Immunodeficiency predominantly affecting antibody production
annotated property: hasDbXref
annotated target: UMLS:C5681776
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Immunodeficiency predominantly affecting antibody production
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency predominantly affecting antibody production
deprecated: true
notation: ORPHA:101978

OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_331232
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
deprecated: true
notation: ORPHA:101980

OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_331240
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
deprecated: true
notation: ORPHA:101982

Quantitative and/or qualitative congenital phagocyte defect
type: Class
subclass of: Primary immunodeficiency due to a defect in innate immunity
subclass of: Orphanet_557492
has db xref: UMLS:C5681777
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101985
notation: Category
notation: ORPHA:101985

Axiom
annotated source: Quantitative and/or qualitative congenital phagocyte defect
annotated property: hasDbXref
annotated target: UMLS:C5681777
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital neutropenia
type: Class
subclass of: Quantitative and/or qualitative congenital phagocyte defect
subclass of: Orphanet_506219
subclass of: Orphanet_557492
alternative term: Constitutional neutropenia
definition: A rare group of genetic primary immunodeficiencies characterized by impaired neutrophil maturation or function. Neutropenia ranges from mild to severe and may be cyclic, isolated, or syndromic. It is defined by a triad of severe infections, diverse comorbidities, and/or increased leukemic risk, with severity and frequency determined by the underlying gene defect.
definition citation: Orphanet
has db xref: ICD-10:D70
has db xref: ICD-11:4B00.00
has db xref: MONDO:0015134
has db xref: UMLS:C3805116
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101987
notation: Category
notation: ORPHA:101987

Axiom
annotated source: Congenital neutropenia
annotated property: hasDbXref
annotated target: ICD-10:D70
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Congenital neutropenia
annotated property: hasDbXref
annotated target: ICD-11:4B00.00
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Congenital neutropenia
annotated property: hasDbXref
annotated target: MONDO:0015134
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital neutropenia
annotated property: hasDbXref
annotated target: UMLS:C3805116
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Primary immunodeficiency due to a defect in innate immunity
type: Class
subclass of: Primary immunodeficiency
subclass of: Orphanet_557492
has db xref: ICD-11:4A00
has db xref: UMLS:C5681778
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101988
notation: Category
notation: ORPHA:101988

Axiom
annotated source: Primary immunodeficiency due to a defect in innate immunity
annotated property: hasDbXref
annotated target: ICD-11:4A00
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Primary immunodeficiency due to a defect in innate immunity
annotated property: hasDbXref
annotated target: UMLS:C5681778
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Immunodeficiency due to a complement cascade protein anomaly
type: Class
subclass of: Primary immunodeficiency due to a defect in innate immunity
subclass of: Orphanet_557492
has db xref: ICD-10:D84.1
has db xref: ICD-11:4A00.1
has db xref: UMLS:C5681769
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101992
notation: Category
notation: ORPHA:101992

Axiom
annotated source: Immunodeficiency due to a complement cascade protein anomaly
annotated property: hasDbXref
annotated target: ICD-10:D84.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Immunodeficiency due to a complement cascade protein anomaly
annotated property: hasDbXref
annotated target: ICD-11:4A00.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Immunodeficiency due to a complement cascade protein anomaly
annotated property: hasDbXref
annotated target: UMLS:C5681769
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Periodic fever syndrome
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_93665
has db xref: MONDO:0015137
has db xref: MedDRA:10034533
has db xref: UMLS:C3889979
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101995
notation: Category
notation: ORPHA:101995

Axiom
annotated source: Periodic fever syndrome
annotated property: hasDbXref
annotated target: MONDO:0015137
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Periodic fever syndrome
annotated property: hasDbXref
annotated target: MedDRA:10034533
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Periodic fever syndrome
annotated property: hasDbXref
annotated target: UMLS:C3889979
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Primary immunodeficiency
type: Class
subclass of: Orphanet_183770
subclass of: Orphanet_557492
subclass of: Orphanet_98004
has db xref: MeSH:D000081207
has db xref: MedDRA:10064859
has db xref: UMLS:C0398686
present_in: Australia AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
present_in: France AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Germany AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Italy AND has_point_prevalence_average_value : 1.79 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Korea, Republic of AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000
present_in: New Zealand AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Norway AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Oman AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Poland AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Spain AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Turkey AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
present_in: United Kingdom AND has_point_prevalence_average_value : 1.84 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101997
notation: Category
notation: ORPHA:101997

Axiom
annotated source: Primary immunodeficiency
annotated property: hasDbXref
annotated target: MeSH:D000081207
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Primary immunodeficiency
annotated property: hasDbXref
annotated target: MedDRA:10064859
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Primary immunodeficiency
annotated property: hasDbXref
annotated target: UMLS:C0398686
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare epilepsy
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98006
has db xref: UMLS:C5681770
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/101998
notation: Category
notation: ORPHA:101998

Axiom
annotated source: Rare epilepsy
annotated property: hasDbXref
annotated target: UMLS:C5681770
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Multiple system atrophy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182058
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182070
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306695
alternative term: MSA
alternative term: Multisystem atrophy
definition: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
definition citation: Orphanet
has db xref: ICD-10:G23.2
has db xref: ICD-10:G23.3
has db xref: ICD-11:8D87.0
has db xref: MONDO:0007803
has db xref: MeSH:D019578
has db xref: MedDRA:10064060
has db xref: OMIM:146500
has db xref: UMLS:C0393571
has_inheritance: Multigenic/multifactorial
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Faroe Islands AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000
present_in: France AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Iceland AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Iceland AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Italy AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Japan AND has_point_prevalence_average_value : 10.3 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Russian Federation AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Sweden AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000
present_in: United Kingdom AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000
present_in: United States AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Worldwide AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102
notation: ORPHA:102

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: ICD-10:G23.2
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: ICD-10:G23.3
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: ICD-11:8D87.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: MONDO:0007803
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: MeSH:D019578
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: MedDRA:10064060
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: OMIM:146500
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple system atrophy
annotated property: hasDbXref
annotated target: UMLS:C0393571
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Early-onset autosomal dominant Alzheimer disease
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_276058
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98534
alternative term: EOFAD
alternative term: Early-onset familial autosomal dominant Alzheimer disease
alternative term: Familial Alzheimer disease
definition: Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
definition citation: Orphanet
has db xref: ICD-10:G30.0
has db xref: ICD-11:6D80.0
has db xref: MONDO:0015140
has db xref: OMIM:104300
has db xref: OMIM:104310
has db xref: OMIM:602096
has db xref: OMIM:604154
has db xref: OMIM:605055
has db xref: OMIM:605526
has db xref: OMIM:606187
has db xref: OMIM:606889
has db xref: OMIM:607116
has db xref: OMIM:607822
has db xref: OMIM:609636
has db xref: OMIM:609790
has db xref: OMIM:611073
has db xref: OMIM:611152
has db xref: OMIM:611154
has db xref: UMLS:C0276496
has_inheritance: Autosomal dominant
has_age_of_onset: Adult
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1020
notation: ORPHA:1020

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: ICD-10:G30.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: ICD-11:6D80.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: MONDO:0015140
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:104300
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:104310
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:602096
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:604154
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:605055
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:605526
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:606187
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:606889
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:607116
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:607822
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:609636
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:609790
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:611073
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:611152
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: OMIM:611154
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Early-onset autosomal dominant Alzheimer disease
annotated property: hasDbXref
annotated target: UMLS:C0276496
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Medullar disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98006
has db xref: UMLS:C5681773
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102000
notation: Category
notation: ORPHA:102000

Axiom
annotated source: Medullar disease
annotated property: hasDbXref
annotated target: UMLS:C5681773
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare ataxia
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98006
has db xref: UMLS:C5681771
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102002
notation: Category
notation: ORPHA:102002

Axiom
annotated source: Rare ataxia
annotated property: hasDbXref
annotated target: UMLS:C5681771
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare movement disorder
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98006
has db xref: UMLS:C5681772
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102003
notation: Category
notation: ORPHA:102003

Axiom
annotated source: Rare movement disorder
annotated property: hasDbXref
annotated target: UMLS:C5681772
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Brain inflammatory disease
type: Class
subclass of: Orphanet_182064
subclass of: Orphanet_557492
has db xref: UMLS:C5681775
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102005
notation: Category
notation: ORPHA:102005

Axiom
annotated source: Brain inflammatory disease
annotated property: hasDbXref
annotated target: UMLS:C5681775
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neurovascular malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_71281
has db xref: UMLS:C5681774
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102006
notation: Category
notation: ORPHA:102006

Axiom
annotated source: Neurovascular malformation
annotated property: hasDbXref
annotated target: UMLS:C5681774
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Classic lissencephaly
type: Class
subclass of: Orphanet_48471
subclass of: Orphanet_557492
alternative term: Lissencephaly type 1
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015146
has db xref: UMLS:C0431375
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102009
notation: Clinical group
notation: ORPHA:102009

Axiom
annotated source: Classic lissencephaly
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Classic lissencephaly
annotated property: hasDbXref
annotated target: MONDO:0015146
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Classic lissencephaly
annotated property: hasDbXref
annotated target: UMLS:C0431375
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Other syndrome with lissencephaly as a major feature
type: Class
subclass of: Orphanet_48471
subclass of: Orphanet_557492
has db xref: ICD-11:LD20.1
has db xref: UMLS:C5681781
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102010
notation: Category
notation: ORPHA:102010

Axiom
annotated source: Other syndrome with lissencephaly as a major feature
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Other syndrome with lissencephaly as a major feature
annotated property: hasDbXref
annotated target: UMLS:C5681781
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lissencephaly type 3
type: Class
subclass of: Orphanet_48471
subclass of: Orphanet_557492
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015148
has db xref: MeSH:C566908
has db xref: UMLS:C1969029
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102011
notation: Clinical group
notation: ORPHA:102011

Axiom
annotated source: Lissencephaly type 3
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lissencephaly type 3
annotated property: hasDbXref
annotated target: MONDO:0015148
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly type 3
annotated property: hasDbXref
annotated target: MeSH:C566908
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lissencephaly type 3
annotated property: hasDbXref
annotated target: UMLS:C1969029
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Pure hereditary spastic paraplegia
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet 685
alternative term: Pure HSP
alternative term: Pure SPG
alternative term: Pure familial spastic paraplegia
alternative term: Uncomplicated HSP
alternative term: Uncomplicated SPG
alternative term: Uncomplicated familial spastic paraplegia
alternative term: Uncomplicated hereditary spastic paraplegia
has db xref: MONDO:0015149
has db xref: UMLS:C0393555
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102012
notation: Clinical group
notation: ORPHA:102012

Axiom
annotated source: Pure hereditary spastic paraplegia
annotated property: hasDbXref
annotated target: MONDO:0015149
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Pure hereditary spastic paraplegia
annotated property: hasDbXref
annotated target: UMLS:C0393555
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Complex hereditary spastic paraplegia
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet 685
alternative term: Complex HSP
alternative term: Complex SPG
alternative term: Complex familial spastic paraplegia
alternative term: Complicated HSP
alternative term: Complicated SPG
alternative term: Complicated familial spastic paraplegia
alternative term: Complicated hereditary spastic paraplegia
has db xref: MONDO:0015150
has db xref: UMLS:C0393556
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102013
notation: Clinical group
notation: ORPHA:102013

Axiom
annotated source: Complex hereditary spastic paraplegia
annotated property: hasDbXref
annotated target: MONDO:0015150
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Complex hereditary spastic paraplegia
annotated property: hasDbXref
annotated target: UMLS:C0393556
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal dominant limb-girdle muscular dystrophy
type: Class
subclass of: Orphanet 263
subclass of: Orphanet_557492
has db xref: ICD-11:8C70.40
has db xref: MONDO:0015151
has db xref: UMLS:C5675009
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102014
notation: Category
notation: ORPHA:102014

Axiom
annotated source: Autosomal dominant limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: ICD-11:8C70.40
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Autosomal dominant limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: MONDO:0015151
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal dominant limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: UMLS:C5675009
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive limb-girdle muscular dystrophy
type: Class
subclass of: Orphanet 263
subclass of: Orphanet_557492
has db xref: ICD-11:8C70.41
has db xref: MONDO:0015152
has db xref: MeSH:C538640
has db xref: UMLS:C2931907
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102015
notation: Category
notation: ORPHA:102015

Axiom
annotated source: Autosomal recessive limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: ICD-11:8C70.41
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Autosomal recessive limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: MONDO:0015152
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: MeSH:C538640
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive limb-girdle muscular dystrophy
annotated property: hasDbXref
annotated target: UMLS:C2931907
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal monosomy syndrome
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98127
alternative term: Autosomal deletion
has db xref: ICD-11:LD43
has db xref: ICD-11:LD44
has db xref: UMLS:C0026499
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102020
notation: Category
notation: ORPHA:102020

Axiom
annotated source: Autosomal monosomy syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD43
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Autosomal monosomy syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD44
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Autosomal monosomy syndrome
annotated property: hasDbXref
annotated target: UMLS:C0026499
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rickettsial disease
type: Class
subclass of: Orphanet_163582
subclass of: Orphanet_557492
alternative term: Rickettsiae disease
has db xref: MONDO:0006956
has db xref: MeSH:D012282
has db xref: UMLS:C0035585
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102021
notation: Category
notation: ORPHA:102021

Axiom
annotated source: Rickettsial disease
annotated property: hasDbXref
annotated target: MONDO:0006956
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Rickettsial disease
annotated property: hasDbXref
annotated target: MeSH:D012282
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Rickettsial disease
annotated property: hasDbXref
annotated target: UMLS:C0035585
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Spotted fever rickettsiosis
type: Class
subclass of: Rickettsial disease
subclass of: Orphanet_557492
alternative term: Spotted fever rickettsiae disease
has db xref: ICD-11:1C31
has db xref: UMLS:C5680374
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102022
notation: Category
notation: ORPHA:102022

Axiom
annotated source: Spotted fever rickettsiosis
annotated property: hasDbXref
annotated target: ICD-11:1C31
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Spotted fever rickettsiosis
annotated property: hasDbXref
annotated target: UMLS:C5680374
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Typhus-group rickettsiosis
type: Class
subclass of: Rickettsial disease
subclass of: Orphanet_557492
alternative term: Typhus-group rickettsiae disease
has db xref: ICD-11:1C30
has db xref: UMLS:C0343758
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102023
notation: Category
notation: ORPHA:102023

Axiom
annotated source: Typhus-group rickettsiosis
annotated property: hasDbXref
annotated target: ICD-11:1C30
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Typhus-group rickettsiosis
annotated property: hasDbXref
annotated target: UMLS:C0343758
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Human herpesvirus 8-related disorder
type: Class
subclass of: Orphanet_289635
subclass of: Orphanet_557492
alternative term: HHV-8-related disorder
has db xref: MONDO:0015157
has db xref: UMLS:C5680371
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102024
notation: Category
notation: ORPHA:102024

Axiom
annotated source: Human herpesvirus 8-related disorder
annotated property: hasDbXref
annotated target: MONDO:0015157
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Human herpesvirus 8-related disorder
annotated property: hasDbXref
annotated target: UMLS:C5680371
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Nuclear cell envelopathy
type: Class
subclass of: Orphanet C051
deprecated: true
notation: ORPHA:102025

OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_314709
alternative term: OBSOLETE: Cholestatic hepatic amyloidosis
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary localized amyloidosis
deprecated: true
notation: ORPHA:102069

Amaurosis-hypertrichosis syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_716405
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79365
definition: A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.
definition citation: Orphanet
has db xref: ICD-10:H35.5
has db xref: ICD-11:9B70
has db xref: MONDO:0008766
has db xref: MeSH:C536604
has db xref: OMIM:204110
has db xref: UMLS:C4303739
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1021
notation: ORPHA:1021

Axiom
annotated source: Amaurosis-hypertrichosis syndrome
annotated property: hasDbXref
annotated target: ICD-10:H35.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Amaurosis-hypertrichosis syndrome
annotated property: hasDbXref
annotated target: ICD-11:9B70
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Amaurosis-hypertrichosis syndrome
annotated property: hasDbXref
annotated target: MONDO:0008766
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Amaurosis-hypertrichosis syndrome
annotated property: hasDbXref
annotated target: MeSH:C536604
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Amaurosis-hypertrichosis syndrome
annotated property: hasDbXref
annotated target: OMIM:204110
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Amaurosis-hypertrichosis syndrome
annotated property: hasDbXref
annotated target: UMLS:C4303739
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Unexplained periodic fever syndrome
type: Class
subclass of: Periodic fever syndrome
subclass of: Orphanet_557492
has db xref: MONDO:0015158
has db xref: UMLS:C5681779
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102237
notation: Category
notation: ORPHA:102237

Axiom
annotated source: Unexplained periodic fever syndrome
annotated property: hasDbXref
annotated target: MONDO:0015158
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Unexplained periodic fever syndrome
annotated property: hasDbXref
annotated target: UMLS:C5681779
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
type: Class
subclass of: Rare syndromic intellectual disability
subclass of: Orphanet_557492
subclass of: Orphanet_68341
alternative term: MCA/MR
alternative term: Multiple congenital anomalies-intellectual disability with or without dysmorphism
has db xref: MONDO:0015159
has db xref: UMLS:C5680372
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102283
notation: Category
notation: ORPHA:102283

Axiom
annotated source: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
annotated property: hasDbXref
annotated target: MONDO:0015159
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
annotated property: hasDbXref
annotated target: UMLS:C5680372
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
alternative term: OBSOLETE: MCA/variable MR
alternative term: OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
deprecated: true
notation: ORPHA:102284

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_68341
alternative term: MCA without intellectual disability
alternative term: Multiple congenital anomalies without intellectual disability with or without dysmorphism
has db xref: MONDO:0015161
has db xref: UMLS:C5680373
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102285
notation: Category
notation: ORPHA:102285

Axiom
annotated source: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
annotated property: hasDbXref
annotated target: MONDO:0015161
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
annotated property: hasDbXref
annotated target: UMLS:C5680373
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital generalized hypertrichosis, Ambras type
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2222
alternative term: Ambras syndrome
definition: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
definition citation: Orphanet
has db xref: ICD-10:Q84.2
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0007787
has db xref: MeSH:C536605
has db xref: OMIM:145701
has db xref: UMLS:C1840362
has_inheritance: Unknown
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 40.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1023
notation: Clinical subtype
notation: ORPHA:1023

Axiom
annotated source: Congenital generalized hypertrichosis, Ambras type
annotated property: hasDbXref
annotated target: ICD-10:Q84.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital generalized hypertrichosis, Ambras type
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital generalized hypertrichosis, Ambras type
annotated property: hasDbXref
annotated target: MONDO:0007787
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital generalized hypertrichosis, Ambras type
annotated property: hasDbXref
annotated target: MeSH:C536605
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital generalized hypertrichosis, Ambras type
annotated property: hasDbXref
annotated target: OMIM:145701
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital generalized hypertrichosis, Ambras type
annotated property: hasDbXref
annotated target: UMLS:C1840362
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare syndromic intellectual disability
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_87277
has db xref: UMLS:C5681780
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102369
notation: Category
notation: ORPHA:102369

Axiom
annotated source: Rare syndromic intellectual disability
annotated property: hasDbXref
annotated target: UMLS:C5681780
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Primary glomerular disease
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_93548
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Glomerular disease
deprecated: true
notation: ORPHA:102373

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86846
alternative term: AML and myelodysplastic syndromes related to alkylating agent
definition: A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).
definition citation: Orphanet
has db xref: ICD-10:C92.8
has db xref: ICD-11:2A60.20
has db xref: MONDO:0015164
has db xref: UMLS:C1332234
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102379
notation: ORPHA:102379

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
annotated property: hasDbXref
annotated target: ICD-10:C92.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
annotated property: hasDbXref
annotated target: ICD-11:2A60.20
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
annotated property: hasDbXref
annotated target: MONDO:0015164
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
annotated property: hasDbXref
annotated target: UMLS:C1332234
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_86846
alternative term: AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
definition: A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
definition citation: Orphanet
has db xref: ICD-10:C92.0
has db xref: ICD-11:2A60.20
has db xref: MONDO:0015165
has db xref: UMLS:C4707659
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102381
notation: ORPHA:102381

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
annotated property: hasDbXref
annotated target: ICD-10:C92.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
annotated property: hasDbXref
annotated target: ICD-11:2A60.20
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
annotated property: hasDbXref
annotated target: MONDO:0015165
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
annotated property: hasDbXref
annotated target: UMLS:C4707659
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive amelia
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 3301
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tetraamelia-multiple malformations syndrome
has db xref: MONDO:0011054
has db xref: MeSH:C563338
has db xref: OMIM:601360
has db xref: UMLS:C1832432
deprecated: true
notation: ORPHA:1027

Axiom
annotated source: Autosomal recessive amelia
annotated property: hasDbXref
annotated target: MONDO:0011054
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive amelia
annotated property: hasDbXref
annotated target: MeSH:C563338
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive amelia
annotated property: hasDbXref
annotated target: OMIM:601360
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive amelia
annotated property: hasDbXref
annotated target: UMLS:C1832432
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Acute myeloid leukemia with t(8;21)(q22;q22) translocation
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98277
alternative term: AML with t(8;21)(q22;q22) translocation
definition: A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.
definition citation: Orphanet
has db xref: ICD-10:C92.0
has db xref: ICD-11:2A60.0
has db xref: MONDO:0015166
has db xref: UMLS:C1292774
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Europe AND has_annual_incidence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/102724
notation: ORPHA:102724

Axiom
annotated source: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
annotated property: hasDbXref
annotated target: ICD-10:C92.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
annotated property: hasDbXref
annotated target: ICD-11:2A60.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
annotated property: hasDbXref
annotated target: MONDO:0015166
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
annotated property: hasDbXref
annotated target: UMLS:C1292774
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Amelo-onycho-hypohidrotic syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
alternative term: Ameloonychohypohidrotic ectodermal dysplasia
alternative term: Ameloonychohypohidrotic syndrome
definition: A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. There have been no further descriptions in the literature since 1975.
definition citation: Orphanet
has db xref: ICD-10:Q82.4
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0007095
has db xref: MeSH:C538245
has db xref: OMIM:104570
has db xref: UMLS:C1863006
has_age_of_onset: No data available
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1028
notation: ORPHA:1028

Axiom
annotated source: Amelo-onycho-hypohidrotic syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q82.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Amelo-onycho-hypohidrotic syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Amelo-onycho-hypohidrotic syndrome
annotated property: hasDbXref
annotated target: MONDO:0007095
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Amelo-onycho-hypohidrotic syndrome
annotated property: hasDbXref
annotated target: MeSH:C538245
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Amelo-onycho-hypohidrotic syndrome
annotated property: hasDbXref
annotated target: OMIM:104570
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Amelo-onycho-hypohidrotic syndrome
annotated property: hasDbXref
annotated target: UMLS:C1863006
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Genetic optic atrophy
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_98671
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Hereditary optic neuropathy
deprecated: true
notation: ORPHA:103

Enamel-renal syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139042
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183580
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_506213
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93593
alternative term: Amelogenesis imperfecta-nephrocalcinosis syndrome
definition: A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.
definition citation: Orphanet
has db xref: ICD-10:K00.5
has db xref: ICD-11:LA30.6
has db xref: MONDO:0008771
has db xref: MeSH:C538241
has db xref: OMIM:204690
has db xref: UMLS:C2931783
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 11.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1031
notation: ORPHA:1031

Axiom
annotated source: Enamel-renal syndrome
annotated property: hasDbXref
annotated target: ICD-10:K00.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Enamel-renal syndrome
annotated property: hasDbXref
annotated target: ICD-11:LA30.6
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Enamel-renal syndrome
annotated property: hasDbXref
annotated target: MONDO:0008771
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Enamel-renal syndrome
annotated property: hasDbXref
annotated target: MeSH:C538241
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Enamel-renal syndrome
annotated property: hasDbXref
annotated target: OMIM:204690
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Enamel-renal syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931783
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Hyperdibasic aminoaciduria type 1
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet 470
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Lysinuric protein intolerance
deprecated: true
notation: ORPHA:1032

OBSOLETE: Amniotic bands
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_498461
alternative term: OBSOLETE: ADAM syndrome
alternative term: OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-syndromic terminal transverse limb defect
deprecated: true
notation: ORPHA:1034

Beta-mercaptolactate cysteine disulfiduria
type: Class
subclass of: Orphanet_377790
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_447874
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79173
alternative term: 3-mercaptopyruvate sulfurtransferase deficiency
alternative term: Ampola syndrome
alternative term: MCDU
definition: An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
definition citation: Orphanet
has db xref: ICD-10:E72.1
has db xref: MONDO:0009585
has db xref: OMIM:249650
has db xref: UMLS:C0796055
has_age_of_onset: No data available
present_in: Worldwide AND has_cases/families_value : 1.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1035
notation: ORPHA:1035

Axiom
annotated source: Beta-mercaptolactate cysteine disulfiduria
annotated property: hasDbXref
annotated target: ICD-10:E72.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Beta-mercaptolactate cysteine disulfiduria
annotated property: hasDbXref
annotated target: MONDO:0009585
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-mercaptolactate cysteine disulfiduria
annotated property: hasDbXref
annotated target: OMIM:249650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-mercaptolactate cysteine disulfiduria
annotated property: hasDbXref
annotated target: UMLS:C0796055
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arthrogryposis multiplex congenita
type: Class
subclass of: Arthrogryposis syndrome
subclass of: Orphanet_557492
alternative term: AMC
alternative term: Multiple congenital arthrogryposis
definition: A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
definition citation: Orphanet
has db xref: ICD-10:Q74.3
has db xref: MONDO:0015168
has db xref: MedDRA:10051643
has db xref: UMLS:C5779613
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_inheritance: Not applicable
has_inheritance: X-linked recessive
has_age_of_onset: Neonatal
present_in: Australia AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Canada AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Europe AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Europe AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1037
notation: Clinical group
notation: ORPHA:1037

Axiom
annotated source: Arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: ICD-10:Q74.3
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: MONDO:0015168
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: MedDRA:10051643
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: UMLS:C5779613
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Chronic diarrhea due to glucoamylase deficiency
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Congenital intestinal disease due to an enzymatic defect
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309001
alternative term: Maltase-glucoamylase deficiency
definition: A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.
definition citation: Orphanet
has db xref: ICD-10:E74.3
has db xref: ICD-11:5C61.1
has db xref: MONDO:0015169
has db xref: UMLS:C4275068
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/103907
notation: ORPHA:103907

Axiom
annotated source: Chronic diarrhea due to glucoamylase deficiency
annotated property: hasDbXref
annotated target: ICD-10:E74.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Chronic diarrhea due to glucoamylase deficiency
annotated property: hasDbXref
annotated target: ICD-11:5C61.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Chronic diarrhea due to glucoamylase deficiency
annotated property: hasDbXref
annotated target: MONDO:0015169
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Chronic diarrhea due to glucoamylase deficiency
annotated property: hasDbXref
annotated target: UMLS:C4275068
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital sodium diarrhea
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Congenital intestinal transport defect
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_363300
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_717851
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_73014
alternative term: CSD
alternative term: NHE3 deficiency
alternative term: Na-H exchanger 3 deficiency
alternative term: Non-syndromic congenital sodium diarrhea
alternative term: Sodium/proton exchanger-3 deficiency
definition: A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
definition citation: Orphanet
has db xref: ICD-10:K90.8
has db xref: ICD-11:DA90.1
has db xref: MONDO:0015170
has db xref: OMIM:270420
has db xref: OMIM:616868
has db xref: UMLS:C0267663
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 50.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/103908
notation: ORPHA:103908

Axiom
annotated source: Congenital sodium diarrhea
annotated property: hasDbXref
annotated target: ICD-10:K90.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital sodium diarrhea
annotated property: hasDbXref
annotated target: ICD-11:DA90.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital sodium diarrhea
annotated property: hasDbXref
annotated target: MONDO:0015170
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital sodium diarrhea
annotated property: hasDbXref
annotated target: OMIM:270420
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Congenital sodium diarrhea
annotated property: hasDbXref
annotated target: OMIM:616868
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Congenital sodium diarrhea
annotated property: hasDbXref
annotated target: UMLS:C0267663
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Trehalase deficiency
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Congenital intestinal disease due to an enzymatic defect
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309001
alternative term: Isolated trehalose intolerance
definition: A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.
definition citation: Orphanet
has db xref: ICD-10:E74.3
has db xref: ICD-11:5C61.3
has db xref: MONDO:0012803
has db xref: MONDO:12803
has db xref: MeSH:C562603
has db xref: OMIM:612119
has db xref: UMLS:C0268187
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/103909
notation: ORPHA:103909

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: ICD-10:E74.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: ICD-11:5C61.3
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: MONDO:0012803
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: MONDO:12803
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: MeSH:C562603
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: OMIM:612119
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Trehalase deficiency
annotated property: hasDbXref
annotated target: UMLS:C0268187
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital enterocyte heparan sulfate deficiency
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Congenital enteropathy involving intestinal mucosa development
definition: A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.
definition citation: Orphanet
has db xref: ICD-10:P78.3
has db xref: ICD-11:DA90.Y
has db xref: MONDO:0015171
has db xref: UMLS:C4511238
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/103910
notation: ORPHA:103910

Axiom
annotated source: Congenital enterocyte heparan sulfate deficiency
annotated property: hasDbXref
annotated target: ICD-10:P78.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital enterocyte heparan sulfate deficiency
annotated property: hasDbXref
annotated target: ICD-11:DA90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital enterocyte heparan sulfate deficiency
annotated property: hasDbXref
annotated target: MONDO:0015171
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital enterocyte heparan sulfate deficiency
annotated property: hasDbXref
annotated target: UMLS:C4511238
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Rare inflammatory bowel disease
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare inflammatory bowel disease
deprecated: true
notation: ORPHA:103912

OBSOLETE: Immunoproliferative small intestinal disease
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Alpha-heavy chain disease
alternative term: OBSOLETE: IPSID
alternative term: OBSOLETE: Mediterranean lymphoma
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Alpha-heavy chain disease
deprecated: true
notation: ORPHA:103915

OBSOLETE: Autoimmune enteropathy type 2
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_522043
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic autoimmune enteropathy
deprecated: true
notation: ORPHA:103916

OBSOLETE: Autoimmune enteropathy type 3
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_522043
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic autoimmune enteropathy
deprecated: true
notation: ORPHA:103917

Tropical pancreatitis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Rare pancreatic disease
alternative term: TCP
alternative term: Tropical calcific chronic pancreatitis
definition: A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
definition citation: Orphanet
has db xref: ICD-10:K86.1
has db xref: ICD-11:DC32.5
has db xref: MONDO:0011986
has db xref: MeSH:C564276
has db xref: OMIM:608189
has db xref: UMLS:C1842402
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/103918
notation: ORPHA:103918

Axiom
annotated source: Tropical pancreatitis
annotated property: hasDbXref
annotated target: ICD-10:K86.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Tropical pancreatitis
annotated property: hasDbXref
annotated target: ICD-11:DC32.5
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Tropical pancreatitis
annotated property: hasDbXref
annotated target: MONDO:0011986
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Tropical pancreatitis
annotated property: hasDbXref
annotated target: MeSH:C564276
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Tropical pancreatitis
annotated property: hasDbXref
annotated target: OMIM:608189
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Tropical pancreatitis
annotated property: hasDbXref
annotated target: UMLS:C1842402
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autoimmune pancreatitis
type: Class
subclass of: Rare pancreatic disease
subclass of: Orphanet_557492
alternative term: AIP
definition: A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1, which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2, which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.
definition citation: Orphanet
has db xref: ICD-11:DC33
has db xref: MONDO:0015175
has db xref: MeSH:D000081012
has db xref: MedDRA:10069002
has db xref: UMLS:C2609129
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/103919
notation: Clinical group
notation: ORPHA:103919

Axiom
annotated source: Autoimmune pancreatitis
annotated property: hasDbXref
annotated target: ICD-11:DC33
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Autoimmune pancreatitis
annotated property: hasDbXref
annotated target: MONDO:0015175
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autoimmune pancreatitis
annotated property: hasDbXref
annotated target: MeSH:D000081012
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autoimmune pancreatitis
annotated property: hasDbXref
annotated target: MedDRA:10069002
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autoimmune pancreatitis
annotated property: hasDbXref
annotated target: UMLS:C2609129
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Undetermined colitis
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Rare intestinal disease
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare intestinal disease
deprecated: true
notation: ORPHA:103920

Leber hereditary optic neuropathy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_254776
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98671
alternative term: LHON
alternative term: Leber optic atrophy
definition: A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.
definition citation: Orphanet
has db xref: ICD-10:H47.2
has db xref: ICD-11:8C73.Y
has db xref: MONDO:0010788
has db xref: MeSH:D029242
has db xref: OMIM:308905
has db xref: OMIM:535000
has db xref: OMIM:619382
has db xref: UMLS:C0917796
has_inheritance: Mitochondrial inheritance
has_age_of_onset: Adolescent
has_age_of_onset: Adult
present_in: Denmark AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Europe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Japan AND has_point_prevalence_average_value : 1.9743 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000
present_in: United Kingdom AND has_point_prevalence_average_value : 3.22 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104
notation: ORPHA:104

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: ICD-10:H47.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: ICD-11:8C73.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: MONDO:0010788
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: MeSH:D029242
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: OMIM:308905
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: OMIM:535000
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: OMIM:619382
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Leber hereditary optic neuropathy
annotated property: hasDbXref
annotated target: UMLS:C0917796
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Metaphyseal anadysplasia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93430
alternative term: Maroteaux-Verloes-Stanescu syndrome
alternative term: Regressive metaphyseal dysplasia
definition: A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
definition citation: Orphanet
has db xref: ICD-10:Q78.5
has db xref: ICD-11:LD24.7
has db xref: MONDO:0015177
has db xref: MeSH:C537351
has db xref: OMIM:602111
has db xref: OMIM:613073
has db xref: UMLS:C0432226
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 27.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1040
notation: ORPHA:1040

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: ICD-10:Q78.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: ICD-11:LD24.7
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: MONDO:0015177
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: MeSH:C537351
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: OMIM:602111
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: OMIM:613073
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Metaphyseal anadysplasia
annotated property: hasDbXref
annotated target: UMLS:C0432226
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital intestinal transport defect
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_506216
subclass of: Orphanet_557492
has db xref: ICD-11:DA90.1
has db xref: UMLS:C5681747
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104003
notation: Category
notation: ORPHA:104003

Axiom
annotated source: Congenital intestinal transport defect
annotated property: hasDbXref
annotated target: ICD-11:DA90.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Congenital intestinal transport defect
annotated property: hasDbXref
annotated target: UMLS:C5681747
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Intestinal disease due to vitamin absorption anomaly
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_557492
has db xref: UMLS:C5681746
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104004
notation: Category
notation: ORPHA:104004

Axiom
annotated source: Intestinal disease due to vitamin absorption anomaly
annotated property: hasDbXref
annotated target: UMLS:C5681746
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Intestinal disease due to fat malabsorption
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_557492
has db xref: UMLS:C5681745
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104005
notation: Category
notation: ORPHA:104005

Axiom
annotated source: Intestinal disease due to fat malabsorption
annotated property: hasDbXref
annotated target: UMLS:C5681745
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital intestinal disease due to an enzymatic defect
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_557492
has db xref: UMLS:C5681744
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104006
notation: Category
notation: ORPHA:104006

Axiom
annotated source: Congenital intestinal disease due to an enzymatic defect
annotated property: hasDbXref
annotated target: UMLS:C5681744
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital enteropathy involving intestinal mucosa development
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_506216
subclass of: Orphanet_557492
has db xref: UMLS:C5681743
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104007
notation: Category
notation: ORPHA:104007

Axiom
annotated source: Congenital enteropathy involving intestinal mucosa development
annotated property: hasDbXref
annotated target: UMLS:C5681743
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Short bowel syndrome
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_506216
subclass of: Orphanet_557492
definition: Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
definition citation: Orphanet
has db xref: ICD-11:DA96.04
has db xref: MONDO:0015183
has db xref: MeSH:D012778
has db xref: MedDRA:10049416
has db xref: UMLS:C0036992
present_in: Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104008
notation: Clinical group
notation: ORPHA:104008

Axiom
annotated source: Short bowel syndrome
annotated property: hasDbXref
annotated target: ICD-11:DA96.04
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Short bowel syndrome
annotated property: hasDbXref
annotated target: MONDO:0015183
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Short bowel syndrome
annotated property: hasDbXref
annotated target: MeSH:D012778
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Short bowel syndrome
annotated property: hasDbXref
annotated target: MedDRA:10049416
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Short bowel syndrome
annotated property: hasDbXref
annotated target: UMLS:C0036992
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare disease involving intestinal motility
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_506216
subclass of: Orphanet_557492
has db xref: UMLS:C5681742
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104009
notation: Category
notation: ORPHA:104009

Axiom
annotated source: Rare disease involving intestinal motility
annotated property: hasDbXref
annotated target: UMLS:C5681742
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Intestinal polyposis syndrome
type: Class
subclass of: Orphanet_425003
subclass of: Orphanet_506216
subclass of: Orphanet_557492
has db xref: MONDO:0015185
has db xref: MeSH:D044483
has db xref: MedDRA:10057018
has db xref: UMLS:C0345891
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104010
notation: Clinical group
notation: ORPHA:104010

Axiom
annotated source: Intestinal polyposis syndrome
annotated property: hasDbXref
annotated target: MONDO:0015185
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Intestinal polyposis syndrome
annotated property: hasDbXref
annotated target: MeSH:D044483
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Intestinal polyposis syndrome
annotated property: hasDbXref
annotated target: MedDRA:10057018
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Intestinal polyposis syndrome
annotated property: hasDbXref
annotated target: UMLS:C0345891
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare tumor of intestine
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_506216
subclass of: Orphanet_557492
subclass of: Orphanet_98059
alternative term: Rare intestinal tumor
alternative term: Rare tumor of bowel
has db xref: UMLS:C5680369
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104011
notation: Category
notation: ORPHA:104011

Axiom
annotated source: Rare tumor of intestine
annotated property: hasDbXref
annotated target: UMLS:C5680369
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare inflammatory bowel disease
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_506216
subclass of: Orphanet_557492
has db xref: UMLS:C5681741
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104012
notation: Category
notation: ORPHA:104012

Axiom
annotated source: Rare inflammatory bowel disease
annotated property: hasDbXref
annotated target: UMLS:C5681741
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Metabolic disease with intestinal involvement
type: Class
subclass of: Rare intestinal disease
subclass of: Orphanet_165655
subclass of: Orphanet_557492
has db xref: UMLS:C5681740
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104013
notation: Category
notation: ORPHA:104013

Axiom
annotated source: Metabolic disease with intestinal involvement
annotated property: hasDbXref
annotated target: UMLS:C5681740
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Adenocarcinoma of the small intestine
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423957
alternative term: Adenocarcinoma of the small bowel
definition: Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.
definition citation: Orphanet
has db xref: ICD-10:C17.9
has db xref: ICD-11:2B80.20
has db xref: MONDO:0003198
has db xref: MedDRA:10073373
has db xref: UMLS:C0278803
has_inheritance: Not applicable
has_age_of_onset: Adult
present_in: Austria AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Belgium AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Bulgaria AND has_annual_incidence_average_value : 0.174 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Croatia AND has_annual_incidence_average_value : 0.308 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Czech Republic AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Estonia AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Europe AND has_annual_incidence_average_value : 0.588 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Finland AND has_annual_incidence_average_value : 0.574 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: France AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Germany AND has_annual_incidence_average_value : 0.551 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Iceland AND has_annual_incidence_average_value : 0.724 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Ireland AND has_annual_incidence_average_value : 0.564 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Italy AND has_annual_incidence_average_value : 0.79 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Latvia AND has_annual_incidence_average_value : 0.265 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Lithuania AND has_annual_incidence_average_value : 0.277 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Malta AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Netherlands AND has_annual_incidence_average_value : 0.626 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Norway AND has_annual_incidence_average_value : 0.788 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Poland AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Portugal AND has_annual_incidence_average_value : 0.743 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Slovakia AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Slovenia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Spain AND has_annual_incidence_average_value : 0.477 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Switzerland AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: United Kingdom AND has_annual_incidence_average_value : 0.679 AND has_annual_incidence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104075
notation: ORPHA:104075

Axiom
annotated source: Adenocarcinoma of the small intestine
annotated property: hasDbXref
annotated target: ICD-10:C17.9
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Adenocarcinoma of the small intestine
annotated property: hasDbXref
annotated target: ICD-11:2B80.20
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Adenocarcinoma of the small intestine
annotated property: hasDbXref
annotated target: MONDO:0003198
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Adenocarcinoma of the small intestine
annotated property: hasDbXref
annotated target: MedDRA:10073373
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Adenocarcinoma of the small intestine
annotated property: hasDbXref
annotated target: UMLS:C0278803
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Leiomyosarcoma of small intestine
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_423798
definition: Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.
definition citation: Orphanet
has db xref: ICD-10:C17.0
has db xref: ICD-10:C17.1
has db xref: ICD-10:C17.2
has db xref: ICD-10:C17.3
has db xref: ICD-10:C17.8
has db xref: ICD-11:2B58.Y
has db xref: MONDO:0003360
has db xref: MedDRA:10041127
has db xref: UMLS:C0920305
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104076
notation: ORPHA:104076

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: ICD-10:C17.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: ICD-10:C17.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: ICD-10:C17.2
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: ICD-10:C17.3
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: ICD-10:C17.8
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: ICD-11:2B58.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: MONDO:0003360
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: MedDRA:10041127
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Leiomyosarcoma of small intestine
annotated property: hasDbXref
annotated target: UMLS:C0920305
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Myopathic intestinal pseudoobstruction
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2978
has db xref: ICD-10:K59.8
has db xref: ICD-11:DA90.2
has db xref: MONDO:0015191
has db xref: UMLS:C5681739
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104077
notation: Etiological subtype
notation: ORPHA:104077

Axiom
annotated source: Myopathic intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: ICD-10:K59.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Myopathic intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: ICD-11:DA90.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Myopathic intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: MONDO:0015191
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Myopathic intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: UMLS:C5681739
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Unclassified intestinal pseudoobstruction
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 2978
has db xref: ICD-10:K59.8
has db xref: ICD-11:DA90.2
has db xref: UMLS:C5681767
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/104078
notation: Etiological subtype
notation: ORPHA:104078

Axiom
annotated source: Unclassified intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: ICD-10:K59.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Unclassified intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: ICD-11:DA90.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Unclassified intestinal pseudoobstruction
annotated property: hasDbXref
annotated target: UMLS:C5681767
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Hydrops fetalis
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93890
alternative term: Fetal anasarca
alternative term: Fetal hydrops
alternative term: Generalized fetal edema
alternative term: HF
definition: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
definition citation: Orphanet
has db xref: ICD-10:P56.0
has db xref: ICD-10:P56.9
has db xref: ICD-10:P83.2
has db xref: ICD-11:KA85
has db xref: ICD-11:KA85.0
has db xref: ICD-11:KA85.Y
has db xref: ICD-11:KC41.1
has db xref: MONDO:0015193
has db xref: MeSH:D015160
has db xref: MedDRA:10020529
has db xref: OMIM:236750
has db xref: UMLS:C0020305
has_inheritance: Not applicable
has_age_of_onset: Antenatal
present_in: Ireland AND has_birth_prevalence_average_value : 134.0 AND has_birth_prevalence_range : >1 / 1000
present_in: Thailand AND has_birth_prevalence_average_value : 180.0 AND has_birth_prevalence_range : >1 / 1000
present_in: Turkey AND has_birth_prevalence_average_value : 380.0 AND has_birth_prevalence_range : >1 / 1000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1041
notation: ORPHA:1041

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-10:P56.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-10:P56.9
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-10:P83.2
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-11:KA85
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-11:KA85.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-11:KA85.Y
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: ICD-11:KC41.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: MONDO:0015193
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: MeSH:D015160
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: MedDRA:10020529
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: OMIM:236750
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Hydrops fetalis
annotated property: hasDbXref
annotated target: UMLS:C0020305
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Anemia due to adenosine triphosphatase deficiency
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_98369
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare constitutional hemolytic anemia due to an enzyme disorder
deprecated: true
notation: ORPHA:1044

Lethal hemolytic anemia-genital anomalies syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165707
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182043
alternative term: Water-West syndrome
definition: A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.
definition citation: Orphanet
has db xref: ICD-10:D58.8
has db xref: ICD-11:3A10.Y
has db xref: MONDO:0010891
has db xref: OMIM:600461
has db xref: UMLS:C4304746
has_inheritance: Unknown
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1046
notation: ORPHA:1046

Axiom
annotated source: Lethal hemolytic anemia-genital anomalies syndrome
annotated property: hasDbXref
annotated target: ICD-10:D58.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lethal hemolytic anemia-genital anomalies syndrome
annotated property: hasDbXref
annotated target: ICD-11:3A10.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lethal hemolytic anemia-genital anomalies syndrome
annotated property: hasDbXref
annotated target: MONDO:0010891
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lethal hemolytic anemia-genital anomalies syndrome
annotated property: hasDbXref
annotated target: OMIM:600461
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lethal hemolytic anemia-genital anomalies syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304746
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Sideroblastic anemia
type: Class
subclass of: Rare anemia
subclass of: Orphanet_557492
definition: Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.
definition citation: Orphanet
has db xref: MONDO:0015194
has db xref: MeSH:D000756
has db xref: MedDRA:10040661
has db xref: OMIM:182170
has db xref: OMIM:205950
has db xref: OMIM:300751
has db xref: OMIM:619523
has db xref: UMLS:C0002896
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_inheritance: Mitochondrial inheritance
has_inheritance: Not applicable
has_inheritance: X-linked dominant
has_inheritance: X-linked recessive
has_age_of_onset: All ages
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1047
notation: Category
notation: ORPHA:1047

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: MONDO:0015194
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: MeSH:D000756
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: MedDRA:10040661
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: OMIM:182170
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: OMIM:205950
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: OMIM:300751
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: OMIM:619523
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sideroblastic anemia
annotated property: hasDbXref
annotated target: UMLS:C0002896
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Isolated anencephaly/exencephaly
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268843
definition: A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).
definition citation: Orphanet
has db xref: ICD-10:Q04.8
has db xref: ICD-11:LA00.0
has db xref: ICD-11:LA00.Y
has db xref: OMIM:206500
has db xref: OMIM:619452
has db xref: UMLS:C5680972
has_inheritance: Multigenic/multifactorial
has_inheritance: Not applicable
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Africa AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : >1 / 1000
present_in: Australia AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 6-9 / 10 000
present_in: Europe AND has_birth_prevalence_average_value : 4.22 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Europe AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: India AND has_birth_prevalence_average_value : 210.0 AND has_birth_prevalence_range : >1 / 1000
present_in: Iran, Islamic Republic of AND has_birth_prevalence_average_value : 120.0 AND has_birth_prevalence_range : >1 / 1000
present_in: Singapore AND has_birth_prevalence_average_value : 58.0 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: United States AND has_birth_prevalence_average_value : 20.6 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Worldwide AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1048
notation: ORPHA:1048

Axiom
annotated source: Isolated anencephaly/exencephaly
annotated property: hasDbXref
annotated target: ICD-10:Q04.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Isolated anencephaly/exencephaly
annotated property: hasDbXref
annotated target: ICD-11:LA00.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Isolated anencephaly/exencephaly
annotated property: hasDbXref
annotated target: ICD-11:LA00.Y
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Isolated anencephaly/exencephaly
annotated property: hasDbXref
annotated target: OMIM:206500
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Isolated anencephaly/exencephaly
annotated property: hasDbXref
annotated target: OMIM:619452
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Isolated anencephaly/exencephaly
annotated property: hasDbXref
annotated target: UMLS:C5680972
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Atresia of urethra
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_435365
alternative term: Urethral atresia
definition: A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.
definition citation: Orphanet
has db xref: ICD-10:Q64.3
has db xref: ICD-11:LB31.2
has db xref: MONDO:0015195
has db xref: MedDRA:10064895
has db xref: UMLS:C0345345
has_inheritance: Not applicable
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_birth_prevalence_range : Unknown
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/105
notation: ORPHA:105

Axiom
annotated source: Atresia of urethra
annotated property: hasDbXref
annotated target: ICD-10:Q64.3
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Atresia of urethra
annotated property: hasDbXref
annotated target: ICD-11:LB31.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Atresia of urethra
annotated property: hasDbXref
annotated target: MONDO:0015195
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atresia of urethra
annotated property: hasDbXref
annotated target: MedDRA:10064895
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atresia of urethra
annotated property: hasDbXref
annotated target: UMLS:C0345345
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ramos-Arroyo syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_716405
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
alternative term: Corneal anesthesia-deafness-intellectual disability syndrome
alternative term: Corneal anesthesia-hearing loss-intellectual disability syndrome
definition: Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0007382
has db xref: MeSH:C535286
has db xref: OMIM:122430
has db xref: UMLS:C2930866
has_inheritance: Autosomal dominant
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 6.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1051
notation: ORPHA:1051

Axiom
annotated source: Ramos-Arroyo syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ramos-Arroyo syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ramos-Arroyo syndrome
annotated property: hasDbXref
annotated target: MONDO:0007382
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ramos-Arroyo syndrome
annotated property: hasDbXref
annotated target: MeSH:C535286
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ramos-Arroyo syndrome
annotated property: hasDbXref
annotated target: OMIM:122430
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ramos-Arroyo syndrome
annotated property: hasDbXref
annotated target: UMLS:C2930866
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Mosaic variegated aneuploidy syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183422
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_68335
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98638
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98642
alternative term: Warburton-Anyane-Yeboa syndrome
definition: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
definition citation: Orphanet
has db xref: ICD-10:Q99.8
has db xref: ICD-11:LD7Y
has db xref: MONDO:0000141
has db xref: MeSH:C536682
has db xref: OMIM:257300
has db xref: OMIM:614114
has db xref: OMIM:617598
has db xref: OMIM:620153
has db xref: OMIM:620189
has db xref: UMLS:C4551972
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 41.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1052
notation: ORPHA:1052

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q99.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD7Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: MONDO:0000141
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: MeSH:C536682
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: OMIM:257300
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: OMIM:614114
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: OMIM:617598
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: OMIM:620153
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: OMIM:620189
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Mosaic variegated aneuploidy syndrome
annotated property: hasDbXref
annotated target: UMLS:C4551972
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Vein of Galen malformation
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Neurovascular malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211240
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_371436
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_715750
alternative term: VOGM
alternative term: Vein of Galen arteriovenous malformations
definition: A rare intracranial congenital high-flow vascular malformation characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants.
definition citation: Orphanet
has db xref: ICD-10:Q28.2
has db xref: ICD-11:LA90.20
has db xref: MONDO:0015196
has db xref: MeSH:C536535
has db xref: MedDRA:10077889
has db xref: UMLS:C0431420
has_inheritance: Not applicable
has_age_of_onset: Antenatal
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1053
notation: ORPHA:1053

Axiom
annotated source: Vein of Galen malformation
annotated property: hasDbXref
annotated target: ICD-10:Q28.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Vein of Galen malformation
annotated property: hasDbXref
annotated target: ICD-11:LA90.20
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Vein of Galen malformation
annotated property: hasDbXref
annotated target: MONDO:0015196
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Vein of Galen malformation
annotated property: hasDbXref
annotated target: MeSH:C536535
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Vein of Galen malformation
annotated property: hasDbXref
annotated target: MedDRA:10077889
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Vein of Galen malformation
annotated property: hasDbXref
annotated target: UMLS:C0431420
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aneurysm of sinus of Valsalva
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98725
alternative term: SOVA
alternative term: SVA
alternative term: Sinus of Valsalva aneurysm
definition: A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
definition citation: Orphanet
has db xref: ICD-10:Q25.4
has db xref: ICD-11:LA8A.4
has db xref: MONDO:0015197
has db xref: UMLS:C2239253
has_inheritance: Unknown
has_age_of_onset: Adult
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1054
notation: ORPHA:1054

Axiom
annotated source: Aneurysm of sinus of Valsalva
annotated property: hasDbXref
annotated target: ICD-10:Q25.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Aneurysm of sinus of Valsalva
annotated property: hasDbXref
annotated target: ICD-11:LA8A.4
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aneurysm of sinus of Valsalva
annotated property: hasDbXref
annotated target: MONDO:0015197
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aneurysm of sinus of Valsalva
annotated property: hasDbXref
annotated target: UMLS:C2239253
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital left ventricular aneurysm
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_88991
definition: A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.
definition citation: Orphanet
has db xref: ICD-10:Q24.8
has db xref: ICD-11:LA88.Y
has db xref: MONDO:0021690
has db xref: UMLS:C0344915
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 809.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1055
notation: ORPHA:1055

Axiom
annotated source: Congenital left ventricular aneurysm
annotated property: hasDbXref
annotated target: ICD-10:Q24.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital left ventricular aneurysm
annotated property: hasDbXref
annotated target: ICD-11:LA88.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital left ventricular aneurysm
annotated property: hasDbXref
annotated target: MONDO:0021690
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital left ventricular aneurysm
annotated property: hasDbXref
annotated target: UMLS:C0344915
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_285014
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare disease with thoracic aortic aneurysm and aortic dissection
deprecated: true
notation: ORPHA:1057

Blue rubber bleb nevus
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_140162
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183478
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459548
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_715339
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79379
alternative term: BRBN
alternative term: Bean syndrome
definition: A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
definition citation: Orphanet
has db xref: ICD-10:Q27.8
has db xref: ICD-11:LC51
has db xref: MONDO:0007203
has db xref: MeSH:C536240
has db xref: OMIM:112200
has db xref: UMLS:C0346072
has_inheritance: Autosomal dominant
has_inheritance: Not applicable
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 200.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1059
notation: ORPHA:1059

Axiom
annotated source: Blue rubber bleb nevus
annotated property: hasDbXref
annotated target: ICD-10:Q27.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Blue rubber bleb nevus
annotated property: hasDbXref
annotated target: ICD-11:LC51
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Blue rubber bleb nevus
annotated property: hasDbXref
annotated target: MONDO:0007203
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Blue rubber bleb nevus
annotated property: hasDbXref
annotated target: MeSH:C536240
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Blue rubber bleb nevus
annotated property: hasDbXref
annotated target: OMIM:112200
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Blue rubber bleb nevus
annotated property: hasDbXref
annotated target: UMLS:C0346072
manual_assertion: E (Exact mapping: the two concepts are equivalent)

NON RARE IN EUROPE: Autism
type: Class
subclass of: Orphanet C048
reason for inactivation: This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases.
has db xref: ICD-10:F84.0
deprecated: true
notation: ORPHA:106

Axiom
annotated source: NON RARE IN EUROPE: Autism
annotated property: hasDbXref
annotated target: ICD-10:F84.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Systemic cystic angiomatosis-Seip syndrome
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 528
alternative term: Brunzell syndrome
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital generalized lipodystrophy
deprecated: true
notation: ORPHA:1060

Hereditary neurocutaneous malformation
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Neurovascular malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166487
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_371436
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459543
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_673470
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98196
definition: A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.
definition citation: Orphanet
has db xref: ICD-10:D18.0
has db xref: ICD-11:LD2D.Y
has db xref: MONDO:0007116
has db xref: MeSH:C536364
has db xref: OMIM:106070
has db xref: UMLS:C1275084
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 9.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1062
notation: ORPHA:1062

Axiom
annotated source: Hereditary neurocutaneous malformation
annotated property: hasDbXref
annotated target: ICD-10:D18.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Hereditary neurocutaneous malformation
annotated property: hasDbXref
annotated target: ICD-11:LD2D.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Hereditary neurocutaneous malformation
annotated property: hasDbXref
annotated target: MONDO:0007116
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hereditary neurocutaneous malformation
annotated property: hasDbXref
annotated target: MeSH:C536364
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hereditary neurocutaneous malformation
annotated property: hasDbXref
annotated target: OMIM:106070
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Hereditary neurocutaneous malformation
annotated property: hasDbXref
annotated target: UMLS:C1275084
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Tufted angioma
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459543
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_673470
alternative term: Nakagawa angioblastoma
definition: A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.
definition citation: Orphanet
has db xref: ICD-10:D18.0
has db xref: ICD-11:2F2Y
has db xref: MONDO:0011927
has db xref: MeSH:C536924
has db xref: OMIM:607859
has db xref: UMLS:C0346073
has_inheritance: Multigenic/multifactorial
has_inheritance: Not applicable
has_age_of_onset: All ages
present_in: Worldwide AND has_cases/families_value : 200.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1063
notation: ORPHA:1063

Axiom
annotated source: Tufted angioma
annotated property: hasDbXref
annotated target: ICD-10:D18.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Tufted angioma
annotated property: hasDbXref
annotated target: ICD-11:2F2Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Tufted angioma
annotated property: hasDbXref
annotated target: MONDO:0011927
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Tufted angioma
annotated property: hasDbXref
annotated target: MeSH:C536924
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Tufted angioma
annotated property: hasDbXref
annotated target: OMIM:607859
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Tufted angioma
annotated property: hasDbXref
annotated target: UMLS:C0346073
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aniridia-renal agenesis-psychomotor retardation syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98638
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
alternative term: Sommer-Rathbun-Battles syndrome
definition: An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0008796
has db xref: MeSH:C536371
has db xref: OMIM:206750
has db xref: UMLS:C4518585
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1064
notation: ORPHA:1064

Axiom
annotated source: Aniridia-renal agenesis-psychomotor retardation syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aniridia-renal agenesis-psychomotor retardation syndrome
annotated property: hasDbXref
annotated target: MONDO:0008796
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-renal agenesis-psychomotor retardation syndrome
annotated property: hasDbXref
annotated target: MeSH:C536371
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-renal agenesis-psychomotor retardation syndrome
annotated property: hasDbXref
annotated target: OMIM:206750
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-renal agenesis-psychomotor retardation syndrome
annotated property: hasDbXref
annotated target: UMLS:C4518585
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aniridia-cerebellar ataxia-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
alternative term: Gillespie syndrome
definition: A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.
definition citation: Orphanet
has db xref: ICD-10:G11.0
has db xref: MONDO:0008795
has db xref: MeSH:C536370
has db xref: MedDRA:10083858
has db xref: OMIM:206700
has db xref: UMLS:C0431401
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_inheritance: Not applicable
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 22.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1065
notation: ORPHA:1065

Axiom
annotated source: Aniridia-cerebellar ataxia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aniridia-cerebellar ataxia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0008795
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-cerebellar ataxia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C536370
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-cerebellar ataxia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MedDRA:10083858
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-cerebellar ataxia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: OMIM:206700
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-cerebellar ataxia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C0431401
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aniridia-ptosis-intellectual disability-familial obesity syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519286
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522568
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
definition: An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
definition citation: Orphanet
has db xref: ICD-10:Q13.1
has db xref: MONDO:0015198
has db xref: UMLS:C4303736
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1067
notation: ORPHA:1067

Axiom
annotated source: Aniridia-ptosis-intellectual disability-familial obesity syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q13.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aniridia-ptosis-intellectual disability-familial obesity syndrome
annotated property: hasDbXref
annotated target: MONDO:0015198
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-ptosis-intellectual disability-familial obesity syndrome
annotated property: hasDbXref
annotated target: UMLS:C4303736
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aniridia-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519292
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522548
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522554
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98641
alternative term: Walker-Dyson syndrome
definition: An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
definition citation: Orphanet
has db xref: ICD-10:Q13.1
has db xref: MONDO:0015199
has db xref: MeSH:C536568
has db xref: UMLS:C2931243
has_inheritance: Autosomal dominant
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1068
notation: ORPHA:1068

Axiom
annotated source: Aniridia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q13.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aniridia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0015199
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C536568
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931243
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aniridia-absent patella syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98557
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98638
definition: A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0007120
has db xref: MeSH:C566281
has db xref: OMIM:106220
has db xref: UMLS:C1862868
has_inheritance: Autosomal dominant
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1069
notation: ORPHA:1069

Axiom
annotated source: Aniridia-absent patella syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aniridia-absent patella syndrome
annotated property: hasDbXref
annotated target: MONDO:0007120
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-absent patella syndrome
annotated property: hasDbXref
annotated target: MeSH:C566281
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-absent patella syndrome
annotated property: hasDbXref
annotated target: OMIM:106220
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aniridia-absent patella syndrome
annotated property: hasDbXref
annotated target: UMLS:C1862868
manual_assertion: E (Exact mapping: the two concepts are equivalent)

BOR syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139036
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156202
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183576
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
alternative term: Branchiootorenal spectrum disorder
alternative term: Branchiootorenal syndrome
alternative term: Melnick-Fraser syndrome
definition: A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD2F.1Y
has db xref: MONDO:0007029
has db xref: MeSH:D019280
has db xref: MedDRA:10071135
has db xref: OMIM:113650
has db xref: OMIM:610896
has db xref: UMLS:C0265234
has_inheritance: Autosomal dominant
has_age_of_onset: Antenatal
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Canada AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/107
notation: ORPHA:107

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2F.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: MONDO:0007029
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: MeSH:D019280
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: MedDRA:10071135
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: OMIM:113650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: OMIM:610896
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: BOR syndrome
annotated property: hasDbXref
annotated target: UMLS:C0265234
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Anisakiasis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_163588
definition: A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).
definition citation: Orphanet
has db xref: ICD-10:B81.0
has db xref: ICD-11:1F61
has db xref: MONDO:0015200
has db xref: MeSH:D017129
has db xref: MedDRA:10002533
has db xref: UMLS:C0162576
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
has_age_of_onset: Elderly
present_in: Japan AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Worldwide AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1070
notation: ORPHA:1070

Axiom
annotated source: Anisakiasis
annotated property: hasDbXref
annotated target: ICD-10:B81.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Anisakiasis
annotated property: hasDbXref
annotated target: ICD-11:1F61
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Anisakiasis
annotated property: hasDbXref
annotated target: MONDO:0015200
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anisakiasis
annotated property: hasDbXref
annotated target: MeSH:D017129
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anisakiasis
annotated property: hasDbXref
annotated target: MedDRA:10002533
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anisakiasis
annotated property: hasDbXref
annotated target: UMLS:C0162576
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294955
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404574
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98565
alternative term: AEC syndrome
alternative term: Hay-Wells syndrome
definition: An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
definition citation: Orphanet
has db xref: ICD-10:Q82.4
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0007124
has db xref: MeSH:C535847
has db xref: OMIM:106260
has db xref: UMLS:C0406709
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1071
notation: ORPHA:1071

Axiom
annotated source: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q82.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annotated property: hasDbXref
annotated target: MONDO:0007124
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annotated property: hasDbXref
annotated target: MeSH:C535847
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annotated property: hasDbXref
annotated target: OMIM:106260
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annotated property: hasDbXref
annotated target: UMLS:C0406709
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ankyloblepharon filiforme adnatum-cleft palate syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
definition: A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.
definition citation: Orphanet
has db xref: ICD-10:Q87.0
has db xref: ICD-11:LD2F.1Y
has db xref: MONDO:0007123
has db xref: OMIM:106250
has db xref: UMLS:C1862866
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1072
notation: Clinical subtype
notation: ORPHA:1072

Axiom
annotated source: Ankyloblepharon filiforme adnatum-cleft palate syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ankyloblepharon filiforme adnatum-cleft palate syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2F.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ankyloblepharon filiforme adnatum-cleft palate syndrome
annotated property: hasDbXref
annotated target: MONDO:0007123
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ankyloblepharon filiforme adnatum-cleft palate syndrome
annotated property: hasDbXref
annotated target: OMIM:106250
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ankyloblepharon filiforme adnatum-cleft palate syndrome
annotated property: hasDbXref
annotated target: UMLS:C1862866
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ankyloblepharon filiforme adnatum-imperforate anus syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
alternative term: Aughton-Hufnagle syndrome
definition: A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0015201
has db xref: UMLS:C4751231
has_inheritance: Unknown
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1074
notation: Clinical subtype
notation: ORPHA:1074

Axiom
annotated source: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
annotated property: hasDbXref
annotated target: MONDO:0015201
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
annotated property: hasDbXref
annotated target: UMLS:C4751231
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Dental ankylosis
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_164001
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_420755
alternative term: Ankylosis of teeth
definition: A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.
definition citation: Orphanet
has db xref: ICD-10:K03.5
has db xref: ICD-11:DA07.61
has db xref: MONDO:0008007
has db xref: MeSH:D020254
has db xref: MedDRA:10044019
has db xref: UMLS:C0155930
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
has_age_of_onset: Elderly
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1077
notation: ORPHA:1077

Axiom
annotated source: Dental ankylosis
annotated property: hasDbXref
annotated target: ICD-10:K03.5
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Dental ankylosis
annotated property: hasDbXref
annotated target: ICD-11:DA07.61
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Dental ankylosis
annotated property: hasDbXref
annotated target: MONDO:0008007
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Dental ankylosis
annotated property: hasDbXref
annotated target: MeSH:D020254
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Dental ankylosis
annotated property: hasDbXref
annotated target: MedDRA:10044019
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Dental ankylosis
annotated property: hasDbXref
annotated target: UMLS:C0155930
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Thumb stiffness-brachydactyly-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498454
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: Piussan-Lenaerts-Mathieu syndrome
definition: A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.
definition citation: Orphanet
has db xref: ICD-10:Q87.2
has db xref: MONDO:0008563
has db xref: MeSH:C537511
has db xref: OMIM:188201
has db xref: UMLS:C2931515
has_inheritance: Autosomal dominant
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 7.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1078
notation: ORPHA:1078

Axiom
annotated source: Thumb stiffness-brachydactyly-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Thumb stiffness-brachydactyly-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0008563
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Thumb stiffness-brachydactyly-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C537511
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Thumb stiffness-brachydactyly-intellectual disability syndrome
annotated property: hasDbXref
annotated target: OMIM:188201
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Thumb stiffness-brachydactyly-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931515
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Babesiosis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_163588
definition: Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.
definition citation: Orphanet
has db xref: ICD-10:B60.0
has db xref: ICD-11:1F52
has db xref: MONDO:0005661
has db xref: MeSH:D001404
has db xref: MedDRA:10003965
has db xref: UMLS:C0004576
has_inheritance: Not applicable
has_age_of_onset: All ages
present_in: Europe AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108
notation: ORPHA:108

Axiom
annotated source: Babesiosis
annotated property: hasDbXref
annotated target: ICD-10:B60.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Babesiosis
annotated property: hasDbXref
annotated target: ICD-11:1F52
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Babesiosis
annotated property: hasDbXref
annotated target: MONDO:0005661
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Babesiosis
annotated property: hasDbXref
annotated target: MeSH:D001404
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Babesiosis
annotated property: hasDbXref
annotated target: MedDRA:10003965
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Babesiosis
annotated property: hasDbXref
annotated target: UMLS:C0004576
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Coronary artery congenital malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_88991
has db xref: ICD-10:Q24.5
has db xref: ICD-11:LA8C
has db xref: MONDO:0015203
has db xref: MedDRA:10061060
has db xref: UMLS:C0158623
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1081
notation: Category
notation: ORPHA:1081

Axiom
annotated source: Coronary artery congenital malformation
annotated property: hasDbXref
annotated target: ICD-10:Q24.5
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Coronary artery congenital malformation
annotated property: hasDbXref
annotated target: ICD-11:LA8C
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Coronary artery congenital malformation
annotated property: hasDbXref
annotated target: MONDO:0015203
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Coronary artery congenital malformation
annotated property: hasDbXref
annotated target: MedDRA:10061060
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Coronary artery congenital malformation
annotated property: hasDbXref
annotated target: UMLS:C0158623
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Microlissencephaly
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_199639
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_269573
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_48471
definition: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015204
has db xref: OMIM:614019
has db xref: OMIM:616212
has db xref: UMLS:C1956147
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1083
notation: ORPHA:1083

Axiom
annotated source: Microlissencephaly
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Microlissencephaly
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Microlissencephaly
annotated property: hasDbXref
annotated target: MONDO:0015204
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Microlissencephaly
annotated property: hasDbXref
annotated target: OMIM:614019
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Microlissencephaly
annotated property: hasDbXref
annotated target: OMIM:616212
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Microlissencephaly
annotated property: hasDbXref
annotated target: UMLS:C1956147
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Isolated lissencephaly type 1 without known genetic defects
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Classic lissencephaly
definition: Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LD20.1
has db xref: MONDO:0015205
has db xref: UMLS:C4275151
has_inheritance: Unknown
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1084
notation: ORPHA:1084

Axiom
annotated source: Isolated lissencephaly type 1 without known genetic defects
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Isolated lissencephaly type 1 without known genetic defects
annotated property: hasDbXref
annotated target: ICD-11:LD20.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Isolated lissencephaly type 1 without known genetic defects
annotated property: hasDbXref
annotated target: MONDO:0015205
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Isolated lissencephaly type 1 without known genetic defects
annotated property: hasDbXref
annotated target: UMLS:C4275151
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
alternative term: OBSOLETE: Rommen-Mueller-Sybert syndrome
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
deprecated: true
notation: ORPHA:1088

Non-syndromic esophageal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_88993
has db xref: UMLS:C5681768
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108959
notation: Category
notation: ORPHA:108959

Axiom
annotated source: Non-syndromic esophageal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681768
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic esophageal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_88993
has db xref: UMLS:C5681763
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108961
notation: Category
notation: ORPHA:108961

Axiom
annotated source: Syndromic esophageal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681763
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Non-syndromic gastroduodenal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97944
has db xref: UMLS:C5681764
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108963
notation: Category
notation: ORPHA:108963

Axiom
annotated source: Non-syndromic gastroduodenal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681764
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic gastroduodenal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97944
has db xref: UMLS:C5681765
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108965
notation: Category
notation: ORPHA:108965

Axiom
annotated source: Syndromic gastroduodenal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681765
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Non-syndromic intestinal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97945
has db xref: UMLS:C5681766
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108967
notation: Category
notation: ORPHA:108967

Axiom
annotated source: Non-syndromic intestinal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681766
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic intestinal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97945
has db xref: UMLS:C5681760
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108969
notation: Category
notation: ORPHA:108969

Axiom
annotated source: Syndromic intestinal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681760
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
type: Class
subclass of: Orphanet_183548
subclass of: Orphanet_506216
subclass of: Orphanet_557492
subclass of: Orphanet_98041
has db xref: UMLS:C5681761
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108971
notation: Category
notation: ORPHA:108971

Axiom
annotated source: Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
annotated property: hasDbXref
annotated target: UMLS:C5681761
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
type: Class
subclass of: Orphanet_183548
subclass of: Orphanet_557492
subclass of: Orphanet_98041
has db xref: UMLS:C5681762
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108973
notation: Category
notation: ORPHA:108973

Axiom
annotated source: Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
annotated property: hasDbXref
annotated target: UMLS:C5681762
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Non-syndromic diaphragmatic or abdominal wall malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98043
has db xref: UMLS:C5681758
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108977
notation: Category
notation: ORPHA:108977

Axiom
annotated source: Non-syndromic diaphragmatic or abdominal wall malformation
annotated property: hasDbXref
annotated target: UMLS:C5681758
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic diaphragmatic or abdominal wall malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98043
has db xref: UMLS:C5681759
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108979
notation: Category
notation: ORPHA:108979

Axiom
annotated source: Syndromic diaphragmatic or abdominal wall malformation
annotated property: hasDbXref
annotated target: UMLS:C5681759
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Non-syndromic developmental defect of the eye
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_519272
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Structural developmental eye defect
deprecated: true
notation: ORPHA:108985

OBSOLETE: Syndromic developmental defect of the eye
type: Class
subclass of: Orphanet C051
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_519272
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Structural developmental eye defect
deprecated: true
notation: ORPHA:108987

Non-syndromic central nervous system malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98044
has db xref: UMLS:C5681757
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108989
notation: Category
notation: ORPHA:108989

Axiom
annotated source: Non-syndromic central nervous system malformation
annotated property: hasDbXref
annotated target: UMLS:C5681757
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndrome with a central nervous system malformation as a major feature
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_98044
has db xref: UMLS:C5681756
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108991
notation: Category
notation: ORPHA:108991

Axiom
annotated source: Syndrome with a central nervous system malformation as a major feature
annotated property: hasDbXref
annotated target: UMLS:C5681756
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Non-syndromic respiratory or mediastinal malformation
type: Class
subclass of: Orphanet_183554
subclass of: Orphanet_557492
subclass of: Orphanet_97962
subclass of: Orphanet_98045
has db xref: UMLS:C5681753
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108993
notation: Category
notation: ORPHA:108993

Axiom
annotated source: Non-syndromic respiratory or mediastinal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681753
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic respiratory or mediastinal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97962
subclass of: Orphanet_98045
has db xref: UMLS:C5681752
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108995
notation: Category
notation: ORPHA:108995

Axiom
annotated source: Syndromic respiratory or mediastinal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681752
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare anemia
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97992
has db xref: UMLS:C5681755
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108997
notation: Category
notation: ORPHA:108997

Axiom
annotated source: Rare anemia
annotated property: hasDbXref
annotated target: UMLS:C5681755
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare disorder due to toxic effects
type: Class
subclass of: Orphanet_557492
has db xref: UMLS:C5681754
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/108999
notation: Category
notation: Head of classification
notation: ORPHA:108999

Axiom
annotated source: Rare disorder due to toxic effects
annotated property: hasDbXref
annotated target: UMLS:C5681754
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Bannayan-Riley-Ruvalcaba syndrome
type: Class
subclass of: Orphanet_557494
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Intestinal polyposis syndrome
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_211277
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306498
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_363314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_459537
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93460
alternative term: BRRS
alternative term: Myhre-Riley-Smith syndrome
definition: A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD2D.Y
has db xref: MONDO:0007924
has db xref: MedDRA:10080314
has db xref: OMIM:158350
has db xref: UMLS:C0265326
has_inheritance: Autosomal dominant
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/109
notation: Clinical subtype
notation: ORPHA:109

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2D.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: hasDbXref
annotated target: MONDO:0007924
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: hasDbXref
annotated target: MedDRA:10080314
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: hasDbXref
annotated target: OMIM:158350
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: hasDbXref
annotated target: UMLS:C0265326
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arthrogryposis syndrome
type: Class
subclass of: Syndrome with limb malformations as a major feature
subclass of: Orphanet_404577
subclass of: Orphanet_557492
has db xref: ICD-11:LD26.4
has db xref: MONDO:0015225
has db xref: MeSH:D001176
has db xref: UMLS:C0003886
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/109007
notation: Category
notation: ORPHA:109007

Axiom
annotated source: Arthrogryposis syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD26.4
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Arthrogryposis syndrome
annotated property: hasDbXref
annotated target: MONDO:0015225
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis syndrome
annotated property: hasDbXref
annotated target: MeSH:D001176
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis syndrome
annotated property: hasDbXref
annotated target: UMLS:C0003886
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndrome with limb malformations as a major feature
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_68378
has db xref: ICD-10:Q87.2
has db xref: UMLS:C5681750
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/109009
notation: Category
notation: ORPHA:109009

Axiom
annotated source: Syndrome with limb malformations as a major feature
annotated property: hasDbXref
annotated target: ICD-10:Q87.2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Syndrome with limb malformations as a major feature
annotated property: hasDbXref
annotated target: UMLS:C5681750
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Non-syndromic limb malformation
type: Class
subclass of: Orphanet_183536
subclass of: Orphanet_557492
subclass of: Orphanet_68378
has db xref: UMLS:C5681749
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/109011
notation: Category
notation: ORPHA:109011

Axiom
annotated source: Non-syndromic limb malformation
annotated property: hasDbXref
annotated target: UMLS:C5681749
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Renal-genital-middle ear anomalies
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 2578
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mayer-Rokitansky-Küster-Hauser syndrome type 2
has db xref: OMIM:267400
has db xref: UMLS:C1849432
deprecated: true
notation: ORPHA:1092

Axiom
annotated source: Renal-genital-middle ear anomalies
annotated property: hasDbXref
annotated target: OMIM:267400
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Renal-genital-middle ear anomalies
annotated property: hasDbXref
annotated target: UMLS:C1849432
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Anonychia-microcephaly syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
alternative term: Teebi-Kaurah syndrome
definition: A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0011795
has db xref: MeSH:C536948
has db xref: OMIM:607214
has db xref: UMLS:C2931373
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 4.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1094
notation: ORPHA:1094

Axiom
annotated source: Anonychia-microcephaly syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Anonychia-microcephaly syndrome
annotated property: hasDbXref
annotated target: MONDO:0011795
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anonychia-microcephaly syndrome
annotated property: hasDbXref
annotated target: MeSH:C536948
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anonychia-microcephaly syndrome
annotated property: hasDbXref
annotated target: OMIM:607214
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anonychia-microcephaly syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931373
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Pentasomy X syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_263723
alternative term: 49,XXXXX syndrome
alternative term: Penta-X
alternative term: Poly-X
definition: Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
definition citation: Orphanet
has db xref: ICD-10:Q97.1
has db xref: ICD-11:LD50.Y
has db xref: MONDO:0015228
has db xref: MeSH:C535319
has db xref: UMLS:C2937419
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/11
notation: ORPHA:11

Axiom
annotated source: Pentasomy X syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q97.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Pentasomy X syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD50.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Pentasomy X syndrome
annotated property: hasDbXref
annotated target: MONDO:0015228
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Pentasomy X syndrome
annotated property: hasDbXref
annotated target: MeSH:C535319
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Pentasomy X syndrome
annotated property: hasDbXref
annotated target: UMLS:C2937419
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Bardet-Biedl syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Rare disease involving intestinal motility
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156162
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156180
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156183
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181387
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_240371
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_399846
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_506213
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_557866
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_716405
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93587
alternative term: BBS
definition: A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:5A61.0
has db xref: MONDO:0015229
has db xref: MeSH:D020788
has db xref: MedDRA:10056715
has db xref: OMIM:209900
has db xref: OMIM:600151
has db xref: OMIM:605231
has db xref: OMIM:615981
has db xref: OMIM:615982
has db xref: OMIM:615983
has db xref: OMIM:615984
has db xref: OMIM:615985
has db xref: OMIM:615986
has db xref: OMIM:615987
has db xref: OMIM:615988
has db xref: OMIM:615989
has db xref: OMIM:615990
has db xref: OMIM:615991
has db xref: OMIM:615992
has db xref: OMIM:615993
has db xref: OMIM:615994
has db xref: OMIM:615995
has db xref: OMIM:615996
has db xref: OMIM:617119
has db xref: OMIM:617406
has db xref: UMLS:C0752166
has_inheritance: Autosomal recessive
has_inheritance: Oligogenic
has_age_of_onset: Antenatal
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: Specific population AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Tunisia AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/110
notation: ORPHA:110

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: ICD-11:5A61.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: MONDO:0015229
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: MeSH:D020788
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: MedDRA:10056715
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:209900
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:600151
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:605231
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615981
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615982
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615983
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615984
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615985
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615986
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615987
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615988
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615989
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615990
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615991
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615992
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615993
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615994
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615995
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:615996
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:617119
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: OMIM:617406
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bardet-Biedl syndrome
annotated property: hasDbXref
annotated target: UMLS:C0752166
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
alternative term: Cassia Stocco dos Santos syndrome
definition: A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0015230
has db xref: UMLS:C4304035
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1101
notation: ORPHA:1101

Axiom
annotated source: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
annotated property: hasDbXref
annotated target: MONDO:0015230
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304035
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Anophthalmia-hypothalamo-pituitary insufficiency syndrome
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 3157
alternative term: 14q22 microdeletion syndrome
alternative term: Al Frayh-Facharzt-Haque syndrome
alternative term: Monosomy 14q22
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum
deprecated: true
notation: ORPHA:1102

Anophthalmia plus syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
alternative term: Fryns microphthalmia syndrome
alternative term: Microphthalmia with facial clefting
definition: A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD21.0
has db xref: MONDO:0010930
has db xref: MeSH:C537767
has db xref: OMIM:600776
has db xref: UMLS:C1833339
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 17.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1104
notation: ORPHA:1104

Axiom
annotated source: Anophthalmia plus syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Anophthalmia plus syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD21.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Anophthalmia plus syndrome
annotated property: hasDbXref
annotated target: MONDO:0010930
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anophthalmia plus syndrome
annotated property: hasDbXref
annotated target: MeSH:C537767
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anophthalmia plus syndrome
annotated property: hasDbXref
annotated target: OMIM:600776
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Anophthalmia plus syndrome
annotated property: hasDbXref
annotated target: UMLS:C1833339
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Microphthalmia with limb anomalies
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_202948
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: Anophthalmia-syndactyly syndrome
alternative term: OAS
alternative term: Ophthalmoacromelic syndrome
alternative term: Waardenburg anophthalmia syndrome
definition: A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
definition citation: Orphanet
has db xref: ICD-10:Q87.2
has db xref: ICD-11:LD21.0
has db xref: MONDO:0008800
has db xref: MeSH:C537769
has db xref: OMIM:206920
has db xref: UMLS:C0599973
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 35.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1106
notation: ORPHA:1106

Axiom
annotated source: Microphthalmia with limb anomalies
annotated property: hasDbXref
annotated target: ICD-10:Q87.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Microphthalmia with limb anomalies
annotated property: hasDbXref
annotated target: ICD-11:LD21.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Microphthalmia with limb anomalies
annotated property: hasDbXref
annotated target: MONDO:0008800
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Microphthalmia with limb anomalies
annotated property: hasDbXref
annotated target: MeSH:C537769
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Microphthalmia with limb anomalies
annotated property: hasDbXref
annotated target: OMIM:206920
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Microphthalmia with limb anomalies
annotated property: hasDbXref
annotated target: UMLS:C0599973
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Barth syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_206966
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217613
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_289902
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_331184
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_352312
alternative term: 3-methylglutaconic aciduria type 2
alternative term: BTHS
alternative term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
alternative term: Cardioskeletal myopathy-neutropenia syndrome
alternative term: MGA2
alternative term: X-linked cardioskeletal myopathy and neutropenia
definition: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
definition citation: Orphanet
has db xref: ICD-10:E71.1
has db xref: ICD-11:5C50.E0
has db xref: MONDO:0010543
has db xref: MeSH:D056889
has db xref: MedDRA:10078537
has db xref: OMIM:302060
has db xref: UMLS:C0574083
has_inheritance: X-linked recessive
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: France AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: United Kingdom AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: United States AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/111
notation: ORPHA:111

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: ICD-10:E71.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: ICD-11:5C50.E0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: MONDO:0010543
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: MeSH:D056889
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: MedDRA:10078537
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: OMIM:302060
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Barth syndrome
annotated property: hasDbXref
annotated target: UMLS:C0574083
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
definition: A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0007143
has db xref: MeSH:C537785
has db xref: OMIM:107500
has db xref: UMLS:C4706520
has_inheritance: Autosomal dominant
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 4.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1110
notation: ORPHA:1110

Axiom
annotated source: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0007143
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C537785
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: OMIM:107500
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C4706520
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294955
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404574
alternative term: Johnson-Munson syndrome
definition: An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0008806
has db xref: MeSH:C535881
has db xref: OMIM:207620
has db xref: UMLS:C1859754
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1112
notation: ORPHA:1112

Axiom
annotated source: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
annotated property: hasDbXref
annotated target: MONDO:0008806
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
annotated property: hasDbXref
annotated target: MeSH:C535881
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
annotated property: hasDbXref
annotated target: OMIM:207620
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
annotated property: hasDbXref
annotated target: UMLS:C1859754
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aphalangy-syndactyly-microcephaly syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294955
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294959
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404574
definition: An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
definition citation: Orphanet
has db xref: ICD-10:Q87.2
has db xref: MONDO:0010882
has db xref: OMIM:600384
has db xref: UMLS:C4304033
has_inheritance: Autosomal dominant
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 5.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1113
notation: ORPHA:1113

Axiom
annotated source: Aphalangy-syndactyly-microcephaly syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aphalangy-syndactyly-microcephaly syndrome
annotated property: hasDbXref
annotated target: MONDO:0010882
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aphalangy-syndactyly-microcephaly syndrome
annotated property: hasDbXref
annotated target: OMIM:600384
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aphalangy-syndactyly-microcephaly syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304033
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aplasia cutis congenita
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183542
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98038
definition: A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.
definition citation: Orphanet
has db xref: ICD-10:Q84.8
has db xref: ICD-11:LC60
has db xref: MONDO:0007145
has db xref: MedDRA:10002963
has db xref: OMIM:107600
has db xref: OMIM:600360
has db xref: OMIM:619959
has db xref: UMLS:C0282160
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_inheritance: Not applicable
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Denmark AND has_birth_prevalence_average_value : 7.69 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Worldwide AND has_point_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1114
notation: ORPHA:1114

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: ICD-10:Q84.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: ICD-11:LC60
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: MONDO:0007145
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: MedDRA:10002963
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: OMIM:107600
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: OMIM:600360
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: OMIM:619959
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Aplasia cutis congenita
annotated property: hasDbXref
annotated target: UMLS:C0282160
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Recessive aplasia cutis congenita of limbs
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Aplasia cutis congenita
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Aplasia cutis congenita
deprecated: true
notation: ORPHA:1115

Aplasia cutis congenita-intestinal lymphangiectasia syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Rare intestinal disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165655
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_568044
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
alternative term: Bronspiegel-Zelnick syndrome
definition: An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
definition citation: Orphanet
has db xref: ICD-10:Q84.8
has db xref: ICD-11:LD27.Y
has db xref: MONDO:0008808
has db xref: MeSH:C537788
has db xref: OMIM:207731
has db xref: UMLS:C4304031
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1116
notation: ORPHA:1116

Axiom
annotated source: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q84.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
annotated property: hasDbXref
annotated target: MONDO:0008808
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
annotated property: hasDbXref
annotated target: MeSH:C537788
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
annotated property: hasDbXref
annotated target: OMIM:207731
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304031
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aplasia cutis-myopia syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183481
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_716405
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79380
alternative term: Gershoni-Baruch-Leibo syndrome
definition: A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister).
definition citation: Orphanet
has db xref: ICD-10:Q84.8
has db xref: ICD-11:LD27.Y
has db xref: MONDO:0010988
has db xref: OMIM:601075
has db xref: UMLS:C4304032
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 4.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1117
notation: ORPHA:1117

Axiom
annotated source: Aplasia cutis-myopia syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q84.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aplasia cutis-myopia syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Aplasia cutis-myopia syndrome
annotated property: hasDbXref
annotated target: MONDO:0010988
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis-myopia syndrome
annotated property: hasDbXref
annotated target: OMIM:601075
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aplasia cutis-myopia syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304032
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Fibular aplasia-ectrodactyly syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498477
definition: A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.
definition citation: Orphanet
has db xref: ICD-10:Q73.8
has db xref: ICD-11:LD26.0
has db xref: MONDO:0007225
has db xref: MeSH:C537930
has db xref: OMIM:113310
has db xref: UMLS:C4303759
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 50.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1118
notation: ORPHA:1118

Axiom
annotated source: Fibular aplasia-ectrodactyly syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q73.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Fibular aplasia-ectrodactyly syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD26.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Fibular aplasia-ectrodactyly syndrome
annotated property: hasDbXref
annotated target: MONDO:0007225
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Fibular aplasia-ectrodactyly syndrome
annotated property: hasDbXref
annotated target: MeSH:C537930
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Fibular aplasia-ectrodactyly syndrome
annotated property: hasDbXref
annotated target: OMIM:113310
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Fibular aplasia-ectrodactyly syndrome
annotated property: hasDbXref
annotated target: UMLS:C4303759
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Bartter syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183592
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93603
alternative term: Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
alternative term: Salt-losing tubular disorder, Henle's loop type
alternative term: Salt-wasting tubulopathy, Henle's loop type
definition: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
definition citation: Orphanet
has db xref: ICD-10:E26.8
has db xref: ICD-11:GB90.43
has db xref: MONDO:0015231
has db xref: MeSH:D001477
has db xref: MedDRA:10050839
has db xref: OMIM:241200
has db xref: OMIM:300971
has db xref: OMIM:601198
has db xref: OMIM:601678
has db xref: OMIM:602522
has db xref: OMIM:607364
has db xref: OMIM:613090
has db xref: UMLS:C0004775
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_inheritance: X-linked recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Antenatal
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Kuwait AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Sweden AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/112
notation: ORPHA:112

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: ICD-10:E26.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: ICD-11:GB90.43
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: MONDO:0015231
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: MeSH:D001477
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: MedDRA:10050839
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:241200
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:300971
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:601198
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:601678
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:602522
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:607364
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: OMIM:613090
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Bartter syndrome
annotated property: hasDbXref
annotated target: UMLS:C0004775
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Lung agenesis-heart defect-thumb anomalies syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic respiratory or mediastinal malformation
subclass of: Restriction
  on property: part_of
  some values from: Syndromic respiratory or mediastinal malformation
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_182111
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183622
alternative term: Mardini-Nyhan syndrome
definition: A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0011116
has db xref: OMIM:601612
has db xref: UMLS:C4302918
has_age_of_onset: Antenatal
present_in: Worldwide AND has_cases/families_value : 9.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1120
notation: ORPHA:1120

Axiom
annotated source: Lung agenesis-heart defect-thumb anomalies syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lung agenesis-heart defect-thumb anomalies syndrome
annotated property: hasDbXref
annotated target: MONDO:0011116
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lung agenesis-heart defect-thumb anomalies syndrome
annotated property: hasDbXref
annotated target: OMIM:601612
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lung agenesis-heart defect-thumb anomalies syndrome
annotated property: hasDbXref
annotated target: UMLS:C4302918
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Radial deficiency-tibial hypoplasia syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
definition: Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
definition citation: Orphanet
has db xref: ICD-10:Q73.8
has db xref: MONDO:0015232
has db xref: UMLS:C5190823
has_age_of_onset: Antenatal
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1121
notation: ORPHA:1121

Axiom
annotated source: Radial deficiency-tibial hypoplasia syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q73.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Radial deficiency-tibial hypoplasia syndrome
annotated property: hasDbXref
annotated target: MONDO:0015232
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Radial deficiency-tibial hypoplasia syndrome
annotated property: hasDbXref
annotated target: UMLS:C5190823
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ulnar hypoplasia-split foot syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_294957
alternative term: Ulnar hypoplasia-lobster-claw deformity of feet syndrome
alternative term: Van den Berghe-Dequecker syndrome
definition: A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978.
definition citation: Orphanet
has db xref: ICD-10:Q73.8
has db xref: MONDO:0010750
has db xref: MeSH:C536936
has db xref: OMIM:314360
has db xref: UMLS:C4518553
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1122
notation: ORPHA:1122

Axiom
annotated source: Ulnar hypoplasia-split foot syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q73.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ulnar hypoplasia-split foot syndrome
annotated property: hasDbXref
annotated target: MONDO:0010750
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ulnar hypoplasia-split foot syndrome
annotated property: hasDbXref
annotated target: MeSH:C536936
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ulnar hypoplasia-split foot syndrome
annotated property: hasDbXref
annotated target: OMIM:314360
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ulnar hypoplasia-split foot syndrome
annotated property: hasDbXref
annotated target: UMLS:C4518553
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Caudal appendage-deafness syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
alternative term: Caudal appendage-hearing loss syndrome
alternative term: Lynch-Lee-Murday syndrome
definition: A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0015233
has db xref: MeSH:C537713
has db xref: UMLS:C2931593
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1123
notation: ORPHA:1123

Axiom
annotated source: Caudal appendage-deafness syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Caudal appendage-deafness syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Caudal appendage-deafness syndrome
annotated property: hasDbXref
annotated target: MONDO:0015233
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Caudal appendage-deafness syndrome
annotated property: hasDbXref
annotated target: MeSH:C537713
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Caudal appendage-deafness syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931593
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ocular motor apraxia, Cogan type
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98688
alternative term: Oculomotor apraxia, Cogan type
definition: Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
definition citation: Orphanet
has db xref: ICD-10:H51.8
has db xref: ICD-11:9C82.4
has db xref: MONDO:0009764
has db xref: MeSH:C537423
has db xref: OMIM:257550
has db xref: UMLS:C0543874
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 50.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1125
notation: ORPHA:1125

Axiom
annotated source: Ocular motor apraxia, Cogan type
annotated property: hasDbXref
annotated target: ICD-10:H51.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ocular motor apraxia, Cogan type
annotated property: hasDbXref
annotated target: ICD-11:9C82.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ocular motor apraxia, Cogan type
annotated property: hasDbXref
annotated target: MONDO:0009764
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ocular motor apraxia, Cogan type
annotated property: hasDbXref
annotated target: MeSH:C537423
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ocular motor apraxia, Cogan type
annotated property: hasDbXref
annotated target: OMIM:257550
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ocular motor apraxia, Cogan type
annotated property: hasDbXref
annotated target: UMLS:C0543874
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aprosencephaly cerebellar dysgenesis
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_268926
definition: A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.
definition citation: Orphanet
has db xref: ICD-10:Q04.3
has db xref: ICD-11:LA05.Y
has db xref: MONDO:0011062
has db xref: MeSH:C563331
has db xref: OMIM:601374
has db xref: UMLS:C1832412
has_age_of_onset: Antenatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1126
notation: ORPHA:1126

Axiom
annotated source: Aprosencephaly cerebellar dysgenesis
annotated property: hasDbXref
annotated target: ICD-10:Q04.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aprosencephaly cerebellar dysgenesis
annotated property: hasDbXref
annotated target: ICD-11:LA05.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Aprosencephaly cerebellar dysgenesis
annotated property: hasDbXref
annotated target: MONDO:0011062
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aprosencephaly cerebellar dysgenesis
annotated property: hasDbXref
annotated target: MeSH:C563331
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aprosencephaly cerebellar dysgenesis
annotated property: hasDbXref
annotated target: OMIM:601374
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aprosencephaly cerebellar dysgenesis
annotated property: hasDbXref
annotated target: UMLS:C1832412
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arachnodactyly-abnormal ossification-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
alternative term: Kosztolanyi syndrome
definition: A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0015234
has db xref: MeSH:C537024
has db xref: UMLS:C2931398
has_inheritance: Unknown
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 5.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1129
notation: ORPHA:1129

Axiom
annotated source: Arachnodactyly-abnormal ossification-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Arachnodactyly-abnormal ossification-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0015234
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arachnodactyly-abnormal ossification-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MeSH:C537024
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arachnodactyly-abnormal ossification-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931398
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Bazex-Dupré-Christol syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139027
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183487
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79386
alternative term: BDCS
alternative term: Follicular atrophoderma and basal cell carcinomas
definition: Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
definition citation: Orphanet
has db xref: ICD-10:L98.8
has db xref: ICD-11:LD27.5
has db xref: MONDO:0010535
has db xref: MeSH:C537663
has db xref: OMIM:301845
has db xref: UMLS:C0346104
has_inheritance: X-linked dominant
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 143.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/113
notation: ORPHA:113

Axiom
annotated source: Bazex-Dupré-Christol syndrome
annotated property: hasDbXref
annotated target: ICD-10:L98.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Bazex-Dupré-Christol syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Bazex-Dupré-Christol syndrome
annotated property: hasDbXref
annotated target: MONDO:0010535
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bazex-Dupré-Christol syndrome
annotated property: hasDbXref
annotated target: MeSH:C537663
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bazex-Dupré-Christol syndrome
annotated property: hasDbXref
annotated target: OMIM:301845
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Bazex-Dupré-Christol syndrome
annotated property: hasDbXref
annotated target: UMLS:C0346104
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arachnodactyly-intellectual disability-dysmorphism syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: De Die-Smulders-Vles-Fryns syndrome
definition: A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0015235
has db xref: UMLS:C4304030
has_inheritance: Unknown
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1130
notation: ORPHA:1130

Axiom
annotated source: Arachnodactyly-intellectual disability-dysmorphism syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Arachnodactyly-intellectual disability-dysmorphism syndrome
annotated property: hasDbXref
annotated target: MONDO:0015235
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arachnodactyly-intellectual disability-dysmorphism syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304030
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked mandibulofacial dysostosis
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_139036
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183576
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_364574
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: Mandibulofacial dysostosis, Toriello type
alternative term: X-linked branchial arch syndrome
alternative term: X-linked mandibulofacial dysostosis with limb anomalies
definition: X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
definition citation: Orphanet
has db xref: ICD-10:Q75.4
has db xref: ICD-11:LD25.2
has db xref: MONDO:0010539
has db xref: MeSH:C537102
has db xref: OMIM:301950
has db xref: UMLS:C1844918
has_inheritance: X-linked recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 7.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1131
notation: ORPHA:1131

Axiom
annotated source: X-linked mandibulofacial dysostosis
annotated property: hasDbXref
annotated target: ICD-10:Q75.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked mandibulofacial dysostosis
annotated property: hasDbXref
annotated target: ICD-11:LD25.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked mandibulofacial dysostosis
annotated property: hasDbXref
annotated target: MONDO:0010539
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked mandibulofacial dysostosis
annotated property: hasDbXref
annotated target: MeSH:C537102
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked mandibulofacial dysostosis
annotated property: hasDbXref
annotated target: OMIM:301950
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked mandibulofacial dysostosis
annotated property: hasDbXref
annotated target: UMLS:C1844918
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Aortic arch defects
type: Class
subclass of: Syndromic respiratory or mediastinal malformation
subclass of: Orphanet_182111
subclass of: Orphanet_557492
subclass of: Orphanet_98724
has db xref: MONDO:0015236
has db xref: UMLS:C5680872
has_inheritance: Not applicable
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1132
notation: Category
notation: ORPHA:1132

Axiom
annotated source: Aortic arch defects
annotated property: hasDbXref
annotated target: MONDO:0015236
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aortic arch defects
annotated property: hasDbXref
annotated target: UMLS:C5680872
manual_assertion: E (Exact mapping: the two concepts are equivalent)

AREDYLD syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181381
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183625
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
alternative term: Acrorenal defect-ectodermal dysplasia-diabetes syndrome
definition: A rare genetic ectodermal dysplasia syndrome characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. There have been no further descriptions in the literature since 1992.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0008812
has db xref: MeSH:C537427
has db xref: OMIM:207780
has db xref: UMLS:C0342280
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1133
notation: ORPHA:1133

Axiom
annotated source: AREDYLD syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: AREDYLD syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: AREDYLD syndrome
annotated property: hasDbXref
annotated target: MONDO:0008812
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: AREDYLD syndrome
annotated property: hasDbXref
annotated target: MeSH:C537427
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: AREDYLD syndrome
annotated property: hasDbXref
annotated target: OMIM:207780
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: AREDYLD syndrome
annotated property: hasDbXref
annotated target: UMLS:C0342280
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Isolated arrhinia
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156246
alternative term: Isolated nose agenesis
definition: An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
definition citation: Orphanet
has db xref: ICD-10:Q30.1
has db xref: ICD-11:LA70.0
has db xref: MONDO:0015237
has db xref: MeSH:C537438
has db xref: UMLS:C0265740
has_inheritance: Not applicable
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 20.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1134
notation: ORPHA:1134

Axiom
annotated source: Isolated arrhinia
annotated property: hasDbXref
annotated target: ICD-10:Q30.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Isolated arrhinia
annotated property: hasDbXref
annotated target: ICD-11:LA70.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Isolated arrhinia
annotated property: hasDbXref
annotated target: MONDO:0015237
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Isolated arrhinia
annotated property: hasDbXref
annotated target: MeSH:C537438
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Isolated arrhinia
annotated property: hasDbXref
annotated target: UMLS:C0265740
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arrhinia-choanal atresia-microphthalmia syndrome
type: Class
subclass of: Orphanet C044
subclass of: Restriction
  on property: moved to
  some values from: Orphanet 2250
reason for inactivation: This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
has db xref: MONDO:0015238
has db xref: UMLS:C1863878
deprecated: true
notation: ORPHA:1135

Axiom
annotated source: Arrhinia-choanal atresia-microphthalmia syndrome
annotated property: hasDbXref
annotated target: MONDO:0015238
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arrhinia-choanal atresia-microphthalmia syndrome
annotated property: hasDbXref
annotated target: UMLS:C1863878
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Arnold-Chiari malformation type II
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_93969
alternative term: OBSOLETE: Arnold-Chiari malformation type 2
alternative term: OBSOLETE: Chiari malformation type 2
alternative term: OBSOLETE: Chiari malformation type II
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Open spinal dysraphism with a myelomeningocele
deprecated: true
notation: ORPHA:1136

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
alternative term: OBSOLETE: Kashani-Strom-Utley syndrome
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
deprecated: true
notation: ORPHA:1137

Abnormal origin of the pulmonary artery
type: Class
subclass of: Orphanet 2445
subclass of: Orphanet_557492
has db xref: ICD-11:LA8B.1
has db xref: MONDO:0015239
has db xref: UMLS:C0265912
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1138
notation: Clinical group
notation: ORPHA:1138

Axiom
annotated source: Abnormal origin of the pulmonary artery
annotated property: hasDbXref
annotated target: ICD-11:LA8B.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Abnormal origin of the pulmonary artery
annotated property: hasDbXref
annotated target: MONDO:0015239
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Abnormal origin of the pulmonary artery
annotated property: hasDbXref
annotated target: UMLS:C0265912
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet_163209
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic cerebral malformation due to abnormal neuronal migration
deprecated: true
notation: ORPHA:1139

Auriculoosteodysplasia
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93441
definition: A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.
definition citation: Orphanet
has db xref: ICD-10:Q87.5
has db xref: ICD-11:LD24.E
has db xref: MONDO:0007177
has db xref: MeSH:C538271
has db xref: OMIM:109000
has db xref: UMLS:C1862381
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 2.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/114
notation: ORPHA:114

Axiom
annotated source: Auriculoosteodysplasia
annotated property: hasDbXref
annotated target: ICD-10:Q87.5
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Auriculoosteodysplasia
annotated property: hasDbXref
annotated target: ICD-11:LD24.E
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Auriculoosteodysplasia
annotated property: hasDbXref
annotated target: MONDO:0007177
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Auriculoosteodysplasia
annotated property: hasDbXref
annotated target: MeSH:C538271
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Auriculoosteodysplasia
annotated property: hasDbXref
annotated target: OMIM:109000
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Auriculoosteodysplasia
annotated property: hasDbXref
annotated target: UMLS:C1862381
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Neurogenic arthrogryposis multiplex congenita
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
definition: A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
definition citation: Orphanet
has db xref: ICD-10:Q74.3
has db xref: ICD-11:LD26.41
has db xref: MONDO:0008823
has db xref: MeSH:C536614
has db xref: OMIM:208100
has db xref: OMIM:618766
has db xref: UMLS:C1859721
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Europe AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Europe AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1143
notation: ORPHA:1143

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: ICD-10:Q74.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: ICD-11:LD26.41
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: MONDO:0008823
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: MeSH:C536614
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: OMIM:208100
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: OMIM:618766
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Neurogenic arthrogryposis multiplex congenita
annotated property: hasDbXref
annotated target: UMLS:C1859721
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
alternative term: Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome
alternative term: Distal arthrogryposis type 6
definition: A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
definition citation: Orphanet
has db xref: ICD-10:Q68.8
has db xref: ICD-11:LD26.4Y
has db xref: MONDO:0007159
has db xref: MeSH:C535386
has db xref: OMIM:108200
has db xref: UMLS:C1862471
has_inheritance: Unknown
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 1.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1144
notation: ORPHA:1144

Axiom
annotated source: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q68.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD26.4Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
annotated property: hasDbXref
annotated target: MONDO:0007159
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
annotated property: hasDbXref
annotated target: MeSH:C535386
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
annotated property: hasDbXref
annotated target: OMIM:108200
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
annotated property: hasDbXref
annotated target: UMLS:C1862471
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Infantile-onset X-linked spinal muscular atrophy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_404538
alternative term: SMAX2
alternative term: Spinal muscular atrophy with arthrogryposis
alternative term: X-linked distal arthrogryposis multiplex congenita
alternative term: X-linked spinal muscular atrophy type 2
definition: A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
definition citation: Orphanet
has db xref: ICD-10:G12.1
has db xref: ICD-11:8B61.Y
has db xref: MONDO:0010532
has db xref: MeSH:C535380
has db xref: OMIM:301830
has db xref: UMLS:C1844934
has_inheritance: X-linked recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 14.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1145
notation: ORPHA:1145

Axiom
annotated source: Infantile-onset X-linked spinal muscular atrophy
annotated property: hasDbXref
annotated target: ICD-10:G12.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Infantile-onset X-linked spinal muscular atrophy
annotated property: hasDbXref
annotated target: ICD-11:8B61.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Infantile-onset X-linked spinal muscular atrophy
annotated property: hasDbXref
annotated target: MONDO:0010532
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Infantile-onset X-linked spinal muscular atrophy
annotated property: hasDbXref
annotated target: MeSH:C535380
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Infantile-onset X-linked spinal muscular atrophy
annotated property: hasDbXref
annotated target: OMIM:301830
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Infantile-onset X-linked spinal muscular atrophy
annotated property: hasDbXref
annotated target: UMLS:C1844934
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Distal arthrogryposis type 1
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98738
alternative term: DA1
alternative term: Digitotalar dysmorphism
definition: A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
definition citation: Orphanet
has db xref: ICD-10:Q68.8
has db xref: ICD-11:LD26.4Y
has db xref: MONDO:0015240
has db xref: MeSH:C535378
has db xref: OMIM:108120
has db xref: OMIM:126050
has db xref: OMIM:614335
has db xref: OMIM:618435
has db xref: OMIM:619110
has db xref: UMLS:C0220662
has_inheritance: Autosomal dominant
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1146
notation: ORPHA:1146

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: ICD-10:Q68.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: ICD-11:LD26.4Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: MONDO:0015240
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: MeSH:C535378
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: OMIM:108120
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: OMIM:126050
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: OMIM:614335
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: OMIM:618435
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: OMIM:619110
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Distal arthrogryposis type 1
annotated property: hasDbXref
annotated target: UMLS:C0220662
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Sheldon-Hall syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98738
alternative term: DA2B
alternative term: Distal arthrogryposis multiplex congenita type 2B
alternative term: Distal arthrogryposis type 2B
alternative term: Freeman-Sheldon syndrome variant
alternative term: SSH
definition: A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate.
definition citation: Orphanet
has db xref: ICD-10:Q68.8
has db xref: ICD-11:LD26.4Y
has db xref: MONDO:0011128
has db xref: MeSH:C538400
has db xref: OMIM:108120
has db xref: OMIM:601680
has db xref: OMIM:616266
has db xref: OMIM:618435
has db xref: OMIM:618436
has db xref: UMLS:C1834523
has_inheritance: Autosomal dominant
has_inheritance: Not applicable
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1147
notation: ORPHA:1147

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q68.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD26.4Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: MONDO:0011128
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: MeSH:C538400
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: OMIM:108120
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: OMIM:601680
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: OMIM:616266
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: OMIM:618435
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: OMIM:618436
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Sheldon-Hall syndrome
annotated property: hasDbXref
annotated target: UMLS:C1834523
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Kuskokwim syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
alternative term: Arthrogryposis-like syndrome
alternative term: Kuskokwim disease
definition: A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
definition citation: Orphanet
has db xref: ICD-10:Q87.2
has db xref: MONDO:0015241
has db xref: MeSH:C538124
has db xref: OMIM:259450
has db xref: UMLS:C1859709
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 8.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1149
notation: ORPHA:1149

Axiom
annotated source: Kuskokwim syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.2
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Kuskokwim syndrome
annotated property: hasDbXref
annotated target: MONDO:0015241
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Kuskokwim syndrome
annotated property: hasDbXref
annotated target: MeSH:C538124
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Kuskokwim syndrome
annotated property: hasDbXref
annotated target: OMIM:259450
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: Kuskokwim syndrome
annotated property: hasDbXref
annotated target: UMLS:C1859709
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital contractural arachnodactyly
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_284993
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498448
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
alternative term: Beals syndrome
alternative term: Beals-Hecht syndrome
alternative term: CCA syndrome
alternative term: Distal arthrogryposis type 9
definition: A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
definition citation: Orphanet
has db xref: ICD-10:Q68.8
has db xref: ICD-11:LD28.00
has db xref: MONDO:0007363
has db xref: MeSH:C536211
has db xref: OMIM:121050
has db xref: UMLS:C0220668
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/115
notation: ORPHA:115

Axiom
annotated source: Congenital contractural arachnodactyly
annotated property: hasDbXref
annotated target: ICD-10:Q68.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital contractural arachnodactyly
annotated property: hasDbXref
annotated target: ICD-11:LD28.00
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Congenital contractural arachnodactyly
annotated property: hasDbXref
annotated target: MONDO:0007363
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital contractural arachnodactyly
annotated property: hasDbXref
annotated target: MeSH:C536211
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital contractural arachnodactyly
annotated property: hasDbXref
annotated target: OMIM:121050
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital contractural arachnodactyly
annotated property: hasDbXref
annotated target: UMLS:C0220668
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Arthrogryposis multiplex congenita-whistling face syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Arthrogryposis multiplex congenita
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
alternative term: Illum syndrome
definition: An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: ICD-11:LD26.41
has db xref: MONDO:0008825
has db xref: MeSH:C538401
has db xref: OMIM:208155
has db xref: UMLS:C1859711
has_inheritance: Autosomal recessive
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 10.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1150
notation: ORPHA:1150

Axiom
annotated source: Arthrogryposis multiplex congenita-whistling face syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Arthrogryposis multiplex congenita-whistling face syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD26.41
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Arthrogryposis multiplex congenita-whistling face syndrome
annotated property: hasDbXref
annotated target: MONDO:0008825
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis multiplex congenita-whistling face syndrome
annotated property: hasDbXref
annotated target: MeSH:C538401
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis multiplex congenita-whistling face syndrome
annotated property: hasDbXref
annotated target: OMIM:208155
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis multiplex congenita-whistling face syndrome
annotated property: hasDbXref
annotated target: UMLS:C1859711
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Transient neonatal arthrogryposis
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Arthrogryposis multiplex congenita
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Arthrogryposis multiplex congenita
deprecated: true
notation: ORPHA:1153

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_97120
alternative term: Distal arthrogryposis type 5
alternative term: Distal arthrogryposis type IIB
alternative term: Distal arthrogryposis with ophthalmoplegia
alternative term: Oculomelic amyoplasia
definition: An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
definition citation: Orphanet
has db xref: ICD-10:Q68.8
has db xref: ICD-11:LD26.4Y
has db xref: MONDO:0007158
has db xref: MeSH:C537737
has db xref: OMIM:108145
has db xref: UMLS:C1862472
has_inheritance: Autosomal dominant
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1154
notation: ORPHA:1154

Axiom
annotated source: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q68.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD26.4Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
annotated property: hasDbXref
annotated target: MONDO:0007158
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
annotated property: hasDbXref
annotated target: MeSH:C537737
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
annotated property: hasDbXref
annotated target: OMIM:108145
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
annotated property: hasDbXref
annotated target: UMLS:C1862472
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Arthrogryposis due to muscular dystrophy
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Arthrogryposis multiplex congenita
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Arthrogryposis multiplex congenita
deprecated: true
notation: ORPHA:1155

Progressive pseudorheumatoid dysplasia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet 253
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_498445
alternative term: PPD
alternative term: Progressive pseudorheumatoid arthropathy of childhood
alternative term: Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
definition: A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy.
definition citation: Orphanet
has db xref: ICD-10:Q77.7
has db xref: ICD-11:LD24.3
has db xref: MONDO:0008827
has db xref: MeSH:C535387
has db xref: OMIM:208230
has db xref: UMLS:C0432215
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : 1-9 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1159
notation: ORPHA:1159

Axiom
annotated source: Progressive pseudorheumatoid dysplasia
annotated property: hasDbXref
annotated target: ICD-10:Q77.7
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Progressive pseudorheumatoid dysplasia
annotated property: hasDbXref
annotated target: ICD-11:LD24.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Progressive pseudorheumatoid dysplasia
annotated property: hasDbXref
annotated target: MONDO:0008827
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Progressive pseudorheumatoid dysplasia
annotated property: hasDbXref
annotated target: MeSH:C535387
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Progressive pseudorheumatoid dysplasia
annotated property: hasDbXref
annotated target: OMIM:208230
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Progressive pseudorheumatoid dysplasia
annotated property: hasDbXref
annotated target: UMLS:C0432215
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Beckwith-Wiedemann syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156207
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156237
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183422
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217595
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_319328
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_641343
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93460
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
alternative term: BWS
alternative term: Exomphalos-macroglossia-gigantism syndrome
alternative term: Wiedemann-Beckwith syndrome
definition: A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation.
definition citation: Orphanet
has db xref: ICD-10:Q87.3
has db xref: ICD-11:LD2C
has db xref: MONDO:0007534
has db xref: MeSH:D001506
has db xref: MedDRA:10050344
has db xref: OMIM:130650
has db xref: UMLS:C0004903
has_inheritance: Autosomal dominant
has_inheritance: Unknown
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Europe AND has_point_prevalence_range : 1-5 / 10 000
present_in: Italy AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Jamaica AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Spain AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/116
notation: ORPHA:116

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2C
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: MONDO:0007534
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: MeSH:D001506
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: MedDRA:10050344
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: OMIM:130650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beckwith-Wiedemann syndrome
annotated property: hasDbXref
annotated target: UMLS:C0004903
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Chylous ascites
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_165711
definition: Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
definition citation: Orphanet
has db xref: ICD-10:I89.8
has db xref: ICD-11:DC51.0
has db xref: MONDO:0008829
has db xref: MeSH:D002915
has db xref: MedDRA:10003446
has db xref: OMIM:208300
has db xref: UMLS:C0008732
has_age_of_onset: All ages
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1160
notation: ORPHA:1160

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: ICD-10:I89.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: ICD-11:DC51.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: MONDO:0008829
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: MeSH:D002915
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: MedDRA:10003446
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: OMIM:208300
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Chylous ascites
annotated property: hasDbXref
annotated target: UMLS:C0008732
manual_assertion: E (Exact mapping: the two concepts are equivalent)

NON RARE IN EUROPE: Asperger syndrome
type: Class
subclass of: Orphanet C048
reason for inactivation: This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases.
has db xref: ICD-10:F84.5
deprecated: true
notation: ORPHA:1162

Axiom
annotated source: NON RARE IN EUROPE: Asperger syndrome
annotated property: hasDbXref
annotated target: ICD-10:F84.5
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Aspergillosis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_163591
definition: A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
definition citation: Orphanet
has db xref: ICD-10:B44.0
has db xref: ICD-10:B44.1
has db xref: ICD-10:B44.2
has db xref: ICD-10:B44.7
has db xref: ICD-10:B44.8
has db xref: ICD-10:B44.9
has db xref: ICD-11:1F20
has db xref: ICD-11:1F20.0
has db xref: ICD-11:1F20.1
has db xref: MONDO:0005657
has db xref: MeSH:D001228
has db xref: MedDRA:10003488
has db xref: OMIM:614079
has db xref: UMLS:C0004030
has_inheritance: Not applicable
has_age_of_onset: All ages
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1163
notation: ORPHA:1163

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.2
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.7
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.8
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.9
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-11:1F20
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-11:1F20.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: ICD-11:1F20.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: MONDO:0005657
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: MeSH:D001228
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: MedDRA:10003488
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: OMIM:614079
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Aspergillosis
annotated property: hasDbXref
annotated target: UMLS:C0004030
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Allergic bronchopulmonary aspergillosis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Rare pulmonary disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98052
alternative term: ABPA
alternative term: Allergic aspergillosis
alternative term: Hinson-Pepys disease
definition: A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.
definition citation: Orphanet
has db xref: ICD-10:B44.1+
has db xref: ICD-10:J99.8*
has db xref: ICD-11:CA82.4
has db xref: MONDO:0015243
has db xref: MeSH:D001229
has db xref: MedDRA:10006474
has db xref: OMIM:103920
has db xref: UMLS:C0004031
has_inheritance: Not applicable
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1164
notation: ORPHA:1164

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:B44.1+
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: ICD-10:J99.8*
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: ICD-11:CA82.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: MONDO:0015243
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: MeSH:D001229
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: MedDRA:10006474
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: OMIM:103920
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Allergic bronchopulmonary aspergillosis
annotated property: hasDbXref
annotated target: UMLS:C0004031
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Congenital unilateral hypoplasia of depressor anguli oris
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_155832
alternative term: Isolated asymmetric crying facies
definition: A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.
definition citation: Orphanet
has db xref: ICD-10:Q87.0
has db xref: MONDO:0007443
has db xref: MeSH:C535349
has db xref: UMLS:C0431406
has_inheritance: Autosomal dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1166
notation: ORPHA:1166

Axiom
annotated source: Congenital unilateral hypoplasia of depressor anguli oris
annotated property: hasDbXref
annotated target: ICD-10:Q87.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Congenital unilateral hypoplasia of depressor anguli oris
annotated property: hasDbXref
annotated target: MONDO:0007443
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital unilateral hypoplasia of depressor anguli oris
annotated property: hasDbXref
annotated target: MeSH:C535349
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital unilateral hypoplasia of depressor anguli oris
annotated property: hasDbXref
annotated target: UMLS:C0431406
manual_assertion: E (Exact mapping: the two concepts are equivalent)

OBSOLETE: Facial asymmetry-temporal seizures syndrome
type: Class
subclass of: Orphanet C052
subclass of: Restriction
  on property: referred to
  some values from: Orphanet 309
reason for inactivation: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial partial epilepsy
deprecated: true
notation: ORPHA:1167

Ataxia-oculomotor apraxia type 1
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519341
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522506
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98097
alternative term: AOA1
definition: A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
definition citation: Orphanet
has db xref: ICD-10:G11.3
has db xref: ICD-11:5C53.22
has db xref: MONDO:0008842
has db xref: MeSH:C538013
has db xref: OMIM:208920
has db xref: UMLS:C1859598
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1168
notation: ORPHA:1168

Axiom
annotated source: Ataxia-oculomotor apraxia type 1
annotated property: hasDbXref
annotated target: ICD-10:G11.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ataxia-oculomotor apraxia type 1
annotated property: hasDbXref
annotated target: ICD-11:5C53.22
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ataxia-oculomotor apraxia type 1
annotated property: hasDbXref
annotated target: MONDO:0008842
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-oculomotor apraxia type 1
annotated property: hasDbXref
annotated target: MeSH:C538013
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-oculomotor apraxia type 1
annotated property: hasDbXref
annotated target: OMIM:208920
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-oculomotor apraxia type 1
annotated property: hasDbXref
annotated target: UMLS:C1859598
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Behçet disease
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156140
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_166484
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_280926
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_280930
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_280933
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_290842
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_324936
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_324953
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_567558
definition: A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
definition citation: Orphanet
has db xref: ICD-10:M35.2
has db xref: ICD-11:4A62
has db xref: MONDO:0007191
has db xref: MeSH:D001528
has db xref: MedDRA:10004213
has db xref: OMIM:109650
has db xref: UMLS:C0004943
has_inheritance: Multigenic/multifactorial
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
present_in: France AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Iran, Islamic Republic of AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Iran, Islamic Republic of AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Israel AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Italy AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Italy AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Japan AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Korea, Republic of AND has_annual_incidence_average_value : 1.51 AND has_annual_incidence_range : 1-9 / 100 000
present_in: Portugal AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Saudi Arabia AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000
present_in: Spain AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Sweden AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Taiwan, Province of China AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000
present_in: Taiwan, Province of China AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Turkey AND has_point_prevalence_average_value : 225.0 AND has_point_prevalence_range : >1 / 1000
present_in: United Kingdom AND has_point_prevalence_average_value : 11.1 AND has_point_prevalence_range : 1-5 / 10 000
present_in: United States AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/117
notation: ORPHA:117

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: ICD-10:M35.2
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: ICD-11:4A62
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: MONDO:0007191
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: MeSH:D001528
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: MedDRA:10004213
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: OMIM:109650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Behçet disease
annotated property: hasDbXref
annotated target: UMLS:C0004943
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive cerebelloparenchymal disorder type 3
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522548
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98095
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98641
alternative term: Autosomal recessive spinocerebellar ataxia type 2
alternative term: SCAR2
definition: A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.
definition citation: Orphanet
has db xref: ICD-10:G11.0
has db xref: MONDO:0008943
has db xref: MeSH:C565865
has db xref: OMIM:213200
has db xref: UMLS:C1859298
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1170
notation: ORPHA:1170

Axiom
annotated source: Autosomal recessive cerebelloparenchymal disorder type 3
annotated property: hasDbXref
annotated target: ICD-10:G11.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Autosomal recessive cerebelloparenchymal disorder type 3
annotated property: hasDbXref
annotated target: MONDO:0008943
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive cerebelloparenchymal disorder type 3
annotated property: hasDbXref
annotated target: MeSH:C565865
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive cerebelloparenchymal disorder type 3
annotated property: hasDbXref
annotated target: OMIM:213200
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive cerebelloparenchymal disorder type 3
annotated property: hasDbXref
annotated target: UMLS:C1859298
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_441434
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_94145
alternative term: CAPOS syndrome
alternative term: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
definition: A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: MONDO:0011038
has db xref: MeSH:C535351
has db xref: OMIM:601338
has db xref: UMLS:C1832466
has_inheritance: Autosomal dominant
has_inheritance: Mitochondrial inheritance
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 10.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1171
notation: ORPHA:1171

Axiom
annotated source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
annotated property: hasDbXref
annotated target: MONDO:0011038
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
annotated property: hasDbXref
annotated target: MeSH:C535351
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
annotated property: hasDbXref
annotated target: OMIM:601338
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
annotated property: hasDbXref
annotated target: UMLS:C1832466
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Autosomal recessive cerebellar ataxia
type: Class
subclass of: Orphanet_183518
subclass of: Orphanet_557492
subclass of: Orphanet_98539
alternative term: ARCA
definition: A group of rare early-onset ataxias with dementia characterized by degeneration or abnormal development of the cerebellum and spinal cord. It is a heterogeneous group including disorders that involves both the central and peripheral nervous system (and in some cases other systems and organs), therefore besides ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. It comprises more than half of the known genetic forms of ataxia including congenital ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias and ataxias associated with other features.
definition citation: Orphanet
has db xref: MONDO:0015244
has db xref: UMLS:C5575375
has_inheritance: Autosomal recessive
has_age_of_onset: All ages
present_in: Europe AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000
present_in: France AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Norway AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Portugal AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1172
notation: Clinical group
notation: ORPHA:1172

Axiom
annotated source: Autosomal recessive cerebellar ataxia
annotated property: hasDbXref
annotated target: MONDO:0015244
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Autosomal recessive cerebellar ataxia
annotated property: hasDbXref
annotated target: UMLS:C5575375
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Cerebellar ataxia-hypogonadism syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181387
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
alternative term: Gordon-Holmes syndrome
alternative term: Luteinizing hormone-releasing hormone deficiency with ataxia
definition: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.
definition citation: Orphanet
has db xref: ICD-10:G11.8
has db xref: MONDO:0008935
has db xref: MeSH:C565870
has db xref: OMIM:212840
has db xref: OMIM:605672
has db xref: UMLS:C1859305
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1173
notation: ORPHA:1173

Axiom
annotated source: Cerebellar ataxia-hypogonadism syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Cerebellar ataxia-hypogonadism syndrome
annotated property: hasDbXref
annotated target: MONDO:0008935
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-hypogonadism syndrome
annotated property: hasDbXref
annotated target: MeSH:C565870
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-hypogonadism syndrome
annotated property: hasDbXref
annotated target: OMIM:212840
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-hypogonadism syndrome
annotated property: hasDbXref
annotated target: OMIM:605672
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Cerebellar ataxia-hypogonadism syndrome
annotated property: hasDbXref
annotated target: UMLS:C1859305
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Cerebellar ataxia-ectodermal dysplasia syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79373
definition: A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: ICD-11:LD27.0Y
has db xref: MONDO:0008934
has db xref: MeSH:C535350
has db xref: OMIM:212835
has db xref: UMLS:C1859306
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1174
notation: ORPHA:1174

Axiom
annotated source: Cerebellar ataxia-ectodermal dysplasia syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Cerebellar ataxia-ectodermal dysplasia syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD27.0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Cerebellar ataxia-ectodermal dysplasia syndrome
annotated property: hasDbXref
annotated target: MONDO:0008934
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-ectodermal dysplasia syndrome
annotated property: hasDbXref
annotated target: MeSH:C535350
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-ectodermal dysplasia syndrome
annotated property: hasDbXref
annotated target: OMIM:212835
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Cerebellar ataxia-ectodermal dysplasia syndrome
annotated property: hasDbXref
annotated target: UMLS:C1859306
manual_assertion: E (Exact mapping: the two concepts are equivalent)

X-linked progressive cerebellar ataxia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_247765
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
definition: A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: ICD-11:8A03.1Y
has db xref: MONDO:0010547
has db xref: OMIM:302500
has db xref: OMIM:302800
has db xref: UMLS:C5231313
has_inheritance: X-linked recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1175
notation: ORPHA:1175

Axiom
annotated source: X-linked progressive cerebellar ataxia
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: X-linked progressive cerebellar ataxia
annotated property: hasDbXref
annotated target: ICD-11:8A03.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: X-linked progressive cerebellar ataxia
annotated property: hasDbXref
annotated target: MONDO:0010547
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: X-linked progressive cerebellar ataxia
annotated property: hasDbXref
annotated target: OMIM:302500
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: X-linked progressive cerebellar ataxia
annotated property: hasDbXref
annotated target: OMIM:302800
manual_assertion: NTBT (ORPHAcode is narrower than the targeted code used to represent it)

Axiom
annotated source: X-linked progressive cerebellar ataxia
annotated property: hasDbXref
annotated target: UMLS:C5231313
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Rare intestinal disease
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_97935
has db xref: UMLS:C5681751
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/117569
notation: Category
notation: ORPHA:117569

Axiom
annotated source: Rare intestinal disease
annotated property: hasDbXref
annotated target: UMLS:C5681751
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Syndromic anorectal malformation
type: Class
subclass of: Orphanet_557492
subclass of: Orphanet_96346
has db xref: UMLS:C5681738
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/117573
notation: Category
notation: ORPHA:117573

Axiom
annotated source: Syndromic anorectal malformation
annotated property: hasDbXref
annotated target: UMLS:C5681738
manual_assertion: E (Exact mapping: the two concepts are equivalent)

PHD finger protein 6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 127
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq26.2
alternative term: CENP-31
alternative term: KIAA1823
alternative term: MGC14797
alternative term: centromere protein 31
has db xref: ClinVar:PHF6
has db xref: Ensembl:ENSG00000156531
has db xref: Genatlas:PHF6
has db xref: HGNC:18145
has db xref: OMIM:300414
has db xref: SwissProt:Q8IWS0
symbol: PHF6

septin 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 2901
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q25.3
alternative term: AF17q25
alternative term: KIAA0991
alternative term: MSF1
alternative term: Ov/Br septin
alternative term: PNUTL4
alternative term: SeptD1
alternative term: peanut-like 4 (Drosophila)
has db xref: ClinVar:SEPTIN9
has db xref: Ensembl:ENSG00000184640
has db xref: Genatlas:SEPT9
has db xref: HGNC:7323
has db xref: OMIM:604061
has db xref: SwissProt:Q9UHD8
symbol: SEPTIN9

aladin WD repeat nucleoporin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 869
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q13.13
alternative term: Allgrove, triple-A
alternative term: adracalin
alternative term: aladin
has db xref: ClinVar:AAAS
has db xref: Ensembl:ENSG00000094914
has db xref: Genatlas:AAAS
has db xref: HGNC:13666
has db xref: OMIM:605378
has db xref: Reactome:Q9NRG9
has db xref: SwissProt:Q9NRG9
symbol: AAAS

4-aminobutyrate aminotransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2066
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.2
alternative term: 4-aminobutyrate transaminase
alternative term: GABA transaminase
alternative term: GABA-T
alternative term: GABAT
alternative term: gamma-aminobutyrate aminotransferase
has db xref: ClinVar:ABAT
has db xref: Ensembl:ENSG00000183044
has db xref: Genatlas:ABAT
has db xref: HGNC:23
has db xref: IUPHAR:2464
has db xref: OMIM:137150
has db xref: Reactome:P80404
has db xref: SwissProt:P80404
symbol: ABAT

ATP binding cassette subfamily A member 12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 313
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 457
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79394
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q35
alternative term: DKFZP434G232
alternative term: LI2
has db xref: ClinVar:ABCA12
has db xref: Ensembl:ENSG00000144452
has db xref: Genatlas:ABCA12
has db xref: HGNC:14637
has db xref: IUPHAR:766
has db xref: OMIM:607800
has db xref: Reactome:Q86UK0
has db xref: SwissProt:Q86UK0
symbol: ABCA12

ATP binding cassette subfamily A member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 827
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p22.1
alternative term: ARMD2
alternative term: CORD3
alternative term: FFM
alternative term: Stargardt disease
has db xref: ClinVar:ABCA4
has db xref: Ensembl:ENSG00000198691
has db xref: Genatlas:ABCA4
has db xref: HGNC:34
has db xref: IUPHAR:759
has db xref: OMIM:601691
has db xref: Reactome:P78363
has db xref: SwissProt:P78363
symbol: ABCA4

ATP binding cassette subfamily B member 11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99961
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_69665
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79304
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q31.1
alternative term: ABC member 16, MDR/TAP subfamily
alternative term: ABC16
alternative term: PFIC-2
alternative term: PGY4
alternative term: SPGP
has db xref: ClinVar:ABCB11
has db xref: Ensembl:ENSG00000073734
has db xref: Genatlas:ABCB11
has db xref: HGNC:42
has db xref: IUPHAR:778
has db xref: OMIM:603201
has db xref: Reactome:O95342
has db xref: SwissProt:O95342
symbol: ABCB11

ATP binding cassette subfamily B member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_69665
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_69663
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79305
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q21.12
alternative term: GBD1
alternative term: MDR2
alternative term: PFIC-3
has db xref: ClinVar:ABCB4
has db xref: Ensembl:ENSG00000005471
has db xref: Genatlas:ABCB4
has db xref: HGNC:45
has db xref: IUPHAR:771
has db xref: OMIM:171060
has db xref: Reactome:P21439
has db xref: SwissProt:P21439
symbol: ABCB4

ATP binding cassette subfamily B member 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2802
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq13.3
alternative term: ASAT
alternative term: Atm1p
alternative term: EST140535
has db xref: ClinVar:ABCB7
has db xref: Ensembl:ENSG00000131269
has db xref: Genatlas:ABCB7
has db xref: HGNC:48
has db xref: IUPHAR:774
has db xref: OMIM:300135
has db xref: Reactome:O75027
has db xref: SwissProt:O75027
symbol: ABCB7

ATP binding cassette subfamily C member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 234
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q24.2
alternative term: DJS
alternative term: MRP2
alternative term: cMRP
has db xref: ClinVar:ABCC2
has db xref: Ensembl:ENSG00000023839
has db xref: Genatlas:ABCC2
has db xref: HGNC:53
has db xref: IUPHAR:780
has db xref: OMIM:601107
has db xref: Reactome:Q92887
has db xref: SwissProt:Q92887
symbol: ABCC2

ATP binding cassette subfamily C member 6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_51608
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 758
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.11
alternative term: EST349056
alternative term: MLP1
alternative term: MRP6
alternative term: URG7
has db xref: ClinVar:ABCC6
has db xref: Ensembl:ENSG00000091262
has db xref: Genatlas:ABCC6
has db xref: HGNC:57
has db xref: IUPHAR:784
has db xref: OMIM:603234
has db xref: Reactome:O95255
has db xref: SwissProt:O95255
symbol: ABCC6

ATP binding cassette subfamily C member 8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276575
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276598
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 552
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79134
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79643
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99885
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99886
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.1
alternative term: ABC36
alternative term: HHF1
alternative term: HI
alternative term: MRP8
alternative term: PHHI
alternative term: SUR1
alternative term: TNDM2
alternative term: sulfonylurea receptor (hyperinsulinemia)
has db xref: ClinVar:ABCC8
has db xref: Ensembl:ENSG00000006071
has db xref: Genatlas:ABCC8
has db xref: HGNC:59
has db xref: IUPHAR:2594
has db xref: OMIM:600509
has db xref: Reactome:Q09428
has db xref: SwissProt:Q09428
symbol: ABCC8

ATP binding cassette subfamily C member 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1517
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 130
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 334
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12p12.1
alternative term: CMD1O
alternative term: SUR2
alternative term: sulfonylurea receptor 2
has db xref: ClinVar:ABCC9
has db xref: Ensembl:ENSG00000069431
has db xref: Genatlas:ABCC9
has db xref: HGNC:60
has db xref: IUPHAR:2746
has db xref: OMIM:601439
has db xref: Reactome:O60706
has db xref: SwissProt:O60706
symbol: ABCC9

ATP binding cassette subfamily D member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139396
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139399
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 388
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_369942
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq28
alternative term: ALDP
alternative term: AMN
alternative term: adrenoleukodystrophy
has db xref: ClinVar:ABCD1
has db xref: Ensembl:ENSG00000101986
has db xref: Genatlas:ABCD1
has db xref: HGNC:61
has db xref: IUPHAR:788
has db xref: OMIM:300371
has db xref: Reactome:P33897
has db xref: SwissProt:P33897
symbol: ABCD1

ATP binding cassette subfamily G member 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2882
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_391665
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p21
alternative term: STSL
alternative term: sterolin 1
has db xref: ClinVar:ABCG5
has db xref: Ensembl:ENSG00000138075
has db xref: Genatlas:ABCG5
has db xref: HGNC:13886
has db xref: IUPHAR:794
has db xref: OMIM:605459
has db xref: Reactome:Q9H222
has db xref: SwissProt:Q9H222
symbol: ABCG5

ATP binding cassette subfamily G member 8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2882
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_391665
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p21
alternative term: GBD4
alternative term: gallbladder disease 4
alternative term: sterolin 2
has db xref: ClinVar:ABCG8
has db xref: Ensembl:ENSG00000143921
has db xref: Genatlas:ABCG8
has db xref: HGNC:13887
has db xref: IUPHAR:795
has db xref: OMIM:605460
has db xref: Reactome:Q9H221
has db xref: SwissProt:Q9H221
symbol: ABCG8

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98907
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p21.33
alternative term: CGI-58
alternative term: NCIE2
has db xref: ClinVar:ABHD5
has db xref: Ensembl:ENSG00000011198
has db xref: Genatlas:ABHD5
has db xref: HGNC:21396
has db xref: OMIM:604780
has db xref: Reactome:Q8WTS1
has db xref: SwissProt:Q8WTS1
symbol: ABHD5

ABL proto-oncogene 1, non-receptor tyrosine kinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_643503
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 521
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_585909
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_99861
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.12
alternative term: JTK7
alternative term: c-ABL
alternative term: p150
has db xref: ClinVar:ABL1
has db xref: Ensembl:ENSG00000097007
has db xref: Genatlas:ABL1
has db xref: HGNC:76
has db xref: IUPHAR:1923
has db xref: OMIM:189980
has db xref: Reactome:P00519
has db xref: SwissProt:P00519
symbol: ABL1

Early-onset cerebellar ataxia with retained tendon reflexes
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98098
alternative term: EOCA
alternative term: EOCARR
alternative term: Harding ataxia
definition: Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: ICD-11:8A03.1Y
has db xref: MONDO:0008938
has db xref: MeSH:C535633
has db xref: OMIM:212895
has db xref: UMLS:C0393520
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_range : 1-9 / 100 000
present_in: Italy AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Italy AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1177
notation: ORPHA:1177

Axiom
annotated source: Early-onset cerebellar ataxia with retained tendon reflexes
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Early-onset cerebellar ataxia with retained tendon reflexes
annotated property: hasDbXref
annotated target: ICD-11:8A03.1Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Early-onset cerebellar ataxia with retained tendon reflexes
annotated property: hasDbXref
annotated target: MONDO:0008938
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Early-onset cerebellar ataxia with retained tendon reflexes
annotated property: hasDbXref
annotated target: MeSH:C535633
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Early-onset cerebellar ataxia with retained tendon reflexes
annotated property: hasDbXref
annotated target: OMIM:212895
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Early-onset cerebellar ataxia with retained tendon reflexes
annotated property: hasDbXref
annotated target: UMLS:C0393520
manual_assertion: E (Exact mapping: the two concepts are equivalent)

acyl-CoA dehydrogenase medium chain
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 42
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p31.1
alternative term: ACAD1
alternative term: MCAD
alternative term: MCADH
alternative term: medium-chain acyl-CoA dehydrogenase
has db xref: ClinVar:ACADM
has db xref: Ensembl:ENSG00000117054
has db xref: Genatlas:ACADM
has db xref: HGNC:89
has db xref: OMIM:607008
has db xref: Reactome:P11310
has db xref: SwissProt:P11310
symbol: ACADM

acyl-CoA dehydrogenase short chain
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_26792
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.31
alternative term: ACAD3
alternative term: SCAD
has db xref: ClinVar:ACADS
has db xref: Ensembl:ENSG00000122971
has db xref: Genatlas:ACADS
has db xref: HGNC:90
has db xref: OMIM:606885
has db xref: Reactome:P16219
has db xref: SwissProt:P16219
symbol: ACADS

acyl-CoA dehydrogenase short/branched chain
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79157
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q26.13
alternative term: ACAD7
alternative term: SBCAD
has db xref: ClinVar:ACADSB
has db xref: Ensembl:ENSG00000196177
has db xref: Genatlas:ACADSB
has db xref: HGNC:91
has db xref: OMIM:600301
has db xref: Reactome:P45954
has db xref: SwissProt:P45954
symbol: ACADSB

acyl-CoA dehydrogenase very long chain
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_26793
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.1
alternative term: ACAD6
alternative term: LCACD
alternative term: VLCAD
has db xref: ClinVar:ACADVL
has db xref: Ensembl:ENSG00000072778
has db xref: Genatlas:ACADVL
has db xref: HGNC:92
has db xref: OMIM:609575
has db xref: Reactome:P49748
has db xref: SwissProt:P49748
symbol: ACADVL

aggrecan
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171866
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_251262
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93283
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_435804
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q26.1
alternative term: CSPGCP
alternative term: aggrecan proteoglycan
has db xref: ClinVar:ACAN
has db xref: Ensembl:ENSG00000157766
has db xref: Genatlas:ACAN
has db xref: HGNC:319
has db xref: OMIM:155760
has db xref: Reactome:P16112
has db xref: SwissProt:P16112
symbol: ACAN

acetyl-CoA acetyltransferase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 134
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q22.3
alternative term: THIL
alternative term: acetoacetyl Coenzyme A thiolase
has db xref: ClinVar:ACAT1
has db xref: Ensembl:ENSG00000075239
has db xref: Genatlas:ACAT1
has db xref: HGNC:93
has db xref: IUPHAR:2435
has db xref: OMIM:607809
has db xref: Reactome:P24752
has db xref: SwissProt:P24752
symbol: ACAT1

angiotensin I converting enzyme
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97369
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q23.3
alternative term: ACE1
alternative term: CD143
alternative term: peptidyl-dipeptidase A
has db xref: ClinVar:ACE
has db xref: Ensembl:ENSG00000159640
has db xref: Genatlas:ACE
has db xref: HGNC:2707
has db xref: IUPHAR:1613
has db xref: OMIM:106180
has db xref: Reactome:P12821
has db xref: SwissProt:P12821
symbol: ACE

acyl-CoA oxidase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2971
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_631248
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q25.1
alternative term: PALMCOX
alternative term: palmitoyl-CoA oxidase
has db xref: ClinVar:ACOX1
has db xref: Ensembl:ENSG00000161533
has db xref: Genatlas:ACOX1
has db xref: HGNC:119
has db xref: OMIM:609751
has db xref: Reactome:Q15067
has db xref: SwissProt:Q15067
symbol: ACOX1

acyl-CoA synthetase long chain family member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 777
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_86818
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq23
alternative term: ACS4
alternative term: LACS4
alternative term: lignoceroyl-CoA synthase
alternative term: long-chain fatty-acid-Coenzyme A ligase 4
has db xref: ClinVar:ACSL4
has db xref: Ensembl:ENSG00000068366
has db xref: Genatlas:ACSL4
has db xref: HGNC:3571
has db xref: OMIM:300157
has db xref: Reactome:O60488
has db xref: SwissProt:O60488
symbol: ACSL4

actin alpha 1, skeletal muscle
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171430
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171433
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171436
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171439
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2020
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_447977
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97240
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97244
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98904
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q42.13
alternative term: NEM3
alternative term: nemaline myopathy type 3
has db xref: ClinVar:ACTA1
has db xref: Ensembl:ENSG00000143632
has db xref: Genatlas:ACTA1
has db xref: HGNC:129
has db xref: OMIM:102610
has db xref: Reactome:P68133
has db xref: SwissProt:P68133
symbol: ACTA1

actin alpha cardiac muscle 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99103
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_54260
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q14
alternative term: CMD1R
has db xref: ClinVar:ACTC1
has db xref: Ensembl:ENSG00000159251
has db xref: Genatlas:ACTC1
has db xref: HGNC:143
has db xref: OMIM:102540
has db xref: Reactome:P68032
has db xref: SwissProt:P68032
symbol: ACTC1

actinin alpha 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 656
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.2
has db xref: ClinVar:ACTN4
has db xref: Ensembl:ENSG00000130402
has db xref: Genatlas:ACTN4
has db xref: HGNC:166
has db xref: OMIM:604638
has db xref: Reactome:O43707
has db xref: SwissProt:O43707
symbol: ACTN4

activin A receptor type 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 337
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q24.1
alternative term: ACVR1A
alternative term: ALK2
alternative term: SKR1
has db xref: ClinVar:ACVR1
has db xref: Ensembl:ENSG00000115170
has db xref: Genatlas:ACVR1
has db xref: HGNC:171
has db xref: IUPHAR:1785
has db xref: OMIM:102576
has db xref: SwissProt:Q04771
symbol: ACVR1

activin A receptor like type 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 774
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_275777
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q13.13
alternative term: ALK1
alternative term: HHT
alternative term: HHT2
alternative term: activin receptor-like kinase 1
has db xref: ClinVar:ACVRL1
has db xref: Ensembl:ENSG00000139567
has db xref: Genatlas:ACVRL1
has db xref: HGNC:175
has db xref: IUPHAR:1784
has db xref: OMIM:601284
has db xref: Reactome:P37023
has db xref: SwissProt:P37023
symbol: ACVRL1

adenosine deaminase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 277
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_39041
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q13.12
alternative term: ADA1
has db xref: ClinVar:ADA
has db xref: Ensembl:ENSG00000196839
has db xref: Genatlas:ADA
has db xref: HGNC:186
has db xref: IUPHAR:1230
has db xref: OMIM:608958
has db xref: Reactome:P00813
has db xref: SwissProt:P00813
symbol: ADA

ADAM metallopeptidase with thrombospondin type 1 motif 10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3449
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.2
alternative term: ADAM-TS10
has db xref: ClinVar:ADAMTS10
has db xref: Ensembl:ENSG00000142303
has db xref: Genatlas:ADAMTS10
has db xref: HGNC:13201
has db xref: IUPHAR:1683
has db xref: OMIM:608990
has db xref: Reactome:Q9H324
has db xref: SwissProt:Q9H324
symbol: ADAMTS10

ADAM metallopeptidase with thrombospondin type 1 motif 13
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_93583
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.2
alternative term: DKFZp434C2322
alternative term: FLJ42993
alternative term: MGC118899
alternative term: MGC118900
alternative term: TTP
alternative term: VWFCP
alternative term: vWF-CP
has db xref: ClinVar:ADAMTS13
has db xref: Ensembl:ENSG00000160323
has db xref: Genatlas:ADAMTS13
has db xref: HGNC:1366
has db xref: IUPHAR:1685
has db xref: OMIM:604134
has db xref: Reactome:Q76LX8
has db xref: SwissProt:Q76LX8
symbol: ADAMTS13

ADAM metallopeptidase with thrombospondin type 1 motif 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1901
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q35.3
alternative term: ADAM-TS2
alternative term: ADAMTS-3
alternative term: NPI
alternative term: PCINP
alternative term: hPCPNI
alternative term: procollagen I N-proteinase
alternative term: procollagen N-endopeptidase
has db xref: ClinVar:ADAMTS2
has db xref: Ensembl:ENSG00000087116
has db xref: Genatlas:ADAMTS2
has db xref: HGNC:218
has db xref: IUPHAR:1675
has db xref: OMIM:604539
has db xref: Reactome:O95450
has db xref: SwissProt:O95450
symbol: ADAMTS2

phosphoglycerate dehydrogenase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79351
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_583607
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p12
alternative term: D-3-phosphoglycerate dehydrogenase
alternative term: PDG
alternative term: PGDH
alternative term: SERA
has db xref: ClinVar:PHGDH
has db xref: Ensembl:ENSG00000092621
has db xref: Genatlas:PHGDH
has db xref: HGNC:8923
has db xref: OMIM:606879
has db xref: Reactome:O43175
has db xref: SwissProt:O43175
symbol: PHGDH

phosphorylase kinase regulatory subunit alpha 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 715
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq13.1
has db xref: ClinVar:PHKA1
has db xref: Ensembl:ENSG00000067177
has db xref: Genatlas:PHKA1
has db xref: HGNC:8925
has db xref: OMIM:311870
has db xref: Reactome:P46020
has db xref: SwissProt:P46020
symbol: PHKA1

phosphorylase kinase regulatory subunit alpha 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_264580
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.13
has db xref: ClinVar:PHKA2
has db xref: Ensembl:ENSG00000044446
has db xref: Genatlas:PHKA2
has db xref: HGNC:8926
has db xref: OMIM:300798
has db xref: Reactome:P46019
has db xref: SwissProt:P46019
symbol: PHKA2

phosphorylase kinase regulatory subunit beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79240
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q12.1
has db xref: ClinVar:PHKB
has db xref: Ensembl:ENSG00000102893
has db xref: Genatlas:PHKB
has db xref: HGNC:8927
has db xref: OMIM:172490
has db xref: Reactome:Q93100
has db xref: SwissProt:Q93100
symbol: PHKB

paired like homeobox 2A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_45358
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.4
alternative term: CFEOM2
alternative term: PMX2A
has db xref: ClinVar:PHOX2A
has db xref: Ensembl:ENSG00000165462
has db xref: Genatlas:PHOX2A
has db xref: HGNC:691
has db xref: OMIM:602753
has db xref: SwissProt:O14813
symbol: PHOX2A

Ataxia-tapetoretinal degeneration syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
definition: A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: MONDO:0010095
has db xref: OMIM:272600
has db xref: UMLS:C5190865
has_inheritance: Unknown
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1178
notation: ORPHA:1178

Axiom
annotated source: Ataxia-tapetoretinal degeneration syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ataxia-tapetoretinal degeneration syndrome
annotated property: hasDbXref
annotated target: MONDO:0010095
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-tapetoretinal degeneration syndrome
annotated property: hasDbXref
annotated target: OMIM:272600
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-tapetoretinal degeneration syndrome
annotated property: hasDbXref
annotated target: UMLS:C5190865
manual_assertion: E (Exact mapping: the two concepts are equivalent)

paired like homeobox 2B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 661
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99803
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 2151
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 635
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4p13
alternative term: NBPhox
alternative term: Phox2b
has db xref: ClinVar:PHOX2B
has db xref: Ensembl:ENSG00000109132
has db xref: Genatlas:PHOX2B
has db xref: HGNC:9143
has db xref: OMIM:603851
has db xref: SwissProt:Q99453
symbol: PHOX2B

phytanoyl-CoA 2-hydroxylase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 773
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10p13
alternative term: PAHX
alternative term: PHYH1
alternative term: RD
alternative term: Refsum disease
alternative term: phytanoyl-CoA dioxygenase
has db xref: ClinVar:PHYH
has db xref: Ensembl:ENSG00000107537
has db xref: Genatlas:PHYH
has db xref: HGNC:8940
has db xref: OMIM:602026
has db xref: Reactome:O14832
has db xref: SwissProt:O14832
symbol: PHYH

phosphatidylinositol glycan anchor biosynthesis class M
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_83639
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q23.2
alternative term: DPM:GlcN-(acyl-)PI mannosyltransferase
alternative term: GPI mannosyltransferase 1
alternative term: GPI-MT-I
alternative term: PIG-M
alternative term: dol-P-Man dependent GPI mannosyltransferase
has db xref: ClinVar:PIGM
has db xref: Ensembl:ENSG00000143315
has db xref: Genatlas:PIGM
has db xref: HGNC:18858
has db xref: OMIM:610273
has db xref: Reactome:Q9H3S5
has db xref: SwissProt:Q9H3S5
symbol: PIGM

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_140944
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_168984
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_210159
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_221061
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 2495
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_276280
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_295239
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_295243
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_314662
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_60040
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_714737
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_90308
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_99802
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 201
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet 144
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q26.32
alternative term: PI3K
has db xref: ClinVar:PIK3CA
has db xref: Ensembl:ENSG00000121879
has db xref: Genatlas:PIK3CA
has db xref: HGNC:8975
has db xref: IUPHAR:2153
has db xref: OMIM:171834
has db xref: Reactome:P42336
has db xref: SwissProt:P42336
symbol: PIK3CA

PTEN induced kinase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2828
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.12
alternative term: BRPK
has db xref: ClinVar:PINK1
has db xref: Ensembl:ENSG00000158828
has db xref: Genatlas:PINK1
has db xref: HGNC:14581
has db xref: IUPHAR:2161
has db xref: OMIM:608309
has db xref: Reactome:Q9BXM7
has db xref: SwissProt:Q9BXM7
symbol: PINK1

phosphoinositide kinase, FYVE-type zinc finger containing
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98970
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q34
alternative term: FAB1
alternative term: KIAA0981
alternative term: MGC40423
alternative term: PIKfyve
alternative term: PIP5K
alternative term: ZFYVE29
alternative term: p235
alternative term: zinc finger, FYVE domain containing 29
has db xref: ClinVar:PIKFYVE
has db xref: Ensembl:ENSG00000115020
has db xref: Genatlas:PIKFYVE
has db xref: HGNC:23785
has db xref: IUPHAR:2857
has db xref: OMIM:609414
has db xref: Reactome:Q9Y2I7
has db xref: SwissProt:Q9Y2I7
symbol: PIKFYVE

paired like homeodomain 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_91481
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_91483
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98978
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 708
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 334
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 782
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 782
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q25
alternative term: ARP1
alternative term: Brx1
alternative term: IGDS
alternative term: Otlx2
alternative term: RS
has db xref: ClinVar:PITX2
has db xref: Ensembl:ENSG00000164093
has db xref: Genatlas:PITX2
has db xref: HGNC:9005
has db xref: OMIM:601542
has db xref: Reactome:Q99697
has db xref: SwissProt:Q99697
symbol: PITX2

paired like homeodomain 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 162
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98993
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q24.32
has db xref: ClinVar:PITX3
has db xref: Ensembl:ENSG00000107859
has db xref: Genatlas:PITX3
has db xref: HGNC:9006
has db xref: OMIM:602669
has db xref: SwissProt:O75364
symbol: PITX3

polycystin 1, transient receptor potential channel interacting
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 730
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_88924
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.3
alternative term: PBP
alternative term: Pc-1
alternative term: TRPP1
alternative term: polycystin 1
alternative term: transient receptor potential cation channel, subfamily P, member 1
has db xref: ClinVar:PKD1
has db xref: Ensembl:ENSG00000008710
has db xref: Genatlas:PKD1
has db xref: HGNC:9008
has db xref: OMIM:601313
has db xref: Reactome:P98161
has db xref: SwissProt:P98161
symbol: PKD1

polycystin 2, transient receptor potential cation channel
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 730
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q22.1
alternative term: PC2
alternative term: PKD4
alternative term: Pc-2
alternative term: TRPP2
alternative term: transient receptor potential cation channel, subfamily P, member 2
has db xref: ClinVar:PKD2
has db xref: Ensembl:ENSG00000118762
has db xref: Genatlas:PKD2
has db xref: HGNC:9009
has db xref: IUPHAR:504
has db xref: OMIM:173910
has db xref: Reactome:Q13563
has db xref: SwissProt:Q13563
symbol: PKD2

PKHD1 ciliary IPT domain containing fibrocystin/polyductin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_53035
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 731
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p12.3-p12.2
alternative term: ARPKD
alternative term: FCYT
alternative term: FPC
alternative term: fibrocystin
alternative term: fibrocystin/polyductin complex
alternative term: polyductin
alternative term: tigmin
has db xref: ClinVar:PKHD1
has db xref: Ensembl:ENSG00000170927
has db xref: Genatlas:PKHD1
has db xref: HGNC:9016
has db xref: OMIM:606702
has db xref: SwissProt:P08F94
symbol: PKHD1

pyruvate kinase L/R
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 766
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q22
has db xref: ClinVar:PKLR
has db xref: Ensembl:ENSG00000143627
has db xref: Genatlas:PKLR
has db xref: HGNC:9020
has db xref: IUPHAR:3007
has db xref: OMIM:609712
has db xref: Reactome:P30613
has db xref: SwissProt:P30613
symbol: PKLR

plakophilin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_158668
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q32.1
alternative term: B6P
alternative term: ectodermal dysplasia/skin fragility syndrome
has db xref: ClinVar:PKP1
has db xref: Ensembl:ENSG00000081277
has db xref: Genatlas:PKP1
has db xref: HGNC:9023
has db xref: OMIM:601975
has db xref: Reactome:Q13835
has db xref: SwissProt:Q13835
symbol: PKP1

plakophilin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293888
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293899
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293910
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_54260
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 130
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12p11.21
has db xref: ClinVar:PKP2
has db xref: Ensembl:ENSG00000057294
has db xref: Genatlas:PKP2
has db xref: HGNC:9024
has db xref: OMIM:602861
has db xref: Reactome:Q99959
has db xref: SwissProt:Q99959
symbol: PKP2

phospholipase A2 group VI
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_199351
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_35069
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.1
alternative term: NBIA2
alternative term: Neurodegeneration with brain iron accumulation 2
alternative term: PARK14
alternative term: PNPLA9
alternative term: iPLA2
alternative term: iPLA2beta
alternative term: neurodegeneration with brain iron accumulation 2
has db xref: ClinVar:PLA2G6
has db xref: Ensembl:ENSG00000184381
has db xref: Genatlas:PLA2G6
has db xref: HGNC:9039
has db xref: IUPHAR:1431
has db xref: OMIM:603604
has db xref: Reactome:O60733
has db xref: SwissProt:O60733
symbol: PLA2G6

plectin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Aplasia cutis congenita
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_158684
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254361
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 257
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79401
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q24.3
alternative term: PCN
alternative term: PLTN
has db xref: ClinVar:PLEC
has db xref: Ensembl:ENSG00000178209
has db xref: Genatlas:PLEC
has db xref: HGNC:9069
has db xref: OMIM:601282
has db xref: Reactome:Q15149
has db xref: SwissProt:Q15149
symbol: PLEC

pleckstrin homology and RhoGEF domain containing G4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_98765
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q22.1
alternative term: ARHGEF44
alternative term: DKFZP434I216
alternative term: puratrophin-1
has db xref: ClinVar:PLEKHG4
has db xref: Ensembl:ENSG00000196155
has db xref: Genatlas:PLEKHG4
has db xref: HGNC:24501
has db xref: OMIM:609526
has db xref: Reactome:Q58EX7
has db xref: SwissProt:Q58EX7
symbol: PLEKHG4

plasminogen
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_537072
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 722
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q26
has db xref: ClinVar:PLG
has db xref: Ensembl:ENSG00000122194
has db xref: Genatlas:PLG
has db xref: HGNC:9071
has db xref: IUPHAR:2394
has db xref: OMIM:173350
has db xref: Reactome:P00747
has db xref: SwissProt:P00747
symbol: PLG

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1900
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.22
alternative term: LH1
alternative term: lysyl hydroxlase 1
alternative term: procollagen lysyl hydroxylase 1
has db xref: ClinVar:PLOD1
has db xref: Ensembl:ENSG00000083444
has db xref: Genatlas:PLOD1
has db xref: HGNC:9081
has db xref: OMIM:153454
has db xref: Reactome:Q02809
has db xref: SwissProt:Q02809
symbol: PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2771
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q24
alternative term: LH2
alternative term: TLH
alternative term: lysyl hydroxlase 2
alternative term: procollagen lysyl hydroxylase 2
alternative term: procollagen-lysine 5-dioxygenase
alternative term: telopeptidyl lysyl hydroxylase
has db xref: ClinVar:PLOD2
has db xref: Ensembl:ENSG00000152952
has db xref: Genatlas:PLOD2
has db xref: HGNC:9082
has db xref: OMIM:601865
has db xref: Reactome:O00469
has db xref: SwissProt:O00469
symbol: PLOD2

proteolipid protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280210
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280219
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280224
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280229
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280234
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_599376
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99015
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq22.2
alternative term: GPM6C
alternative term: Pelizaeus-Merzbacher disease
has db xref: ClinVar:PLP1
has db xref: Ensembl:ENSG00000123560
has db xref: Genatlas:PLP1
has db xref: HGNC:9086
has db xref: OMIM:300401
has db xref: SwissProt:P60201
symbol: PLP1

PML nuclear body scaffold
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 520
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q24.1
alternative term: MYL
alternative term: RNF71
alternative term: TRIM19
has db xref: ClinVar:PML
has db xref: Ensembl:ENSG00000140464
has db xref: Genatlas:PML
has db xref: HGNC:9113
has db xref: OMIM:102578
has db xref: Reactome:P29590
has db xref: SwissProt:P29590
symbol: PML

Benign paroxysmal tonic upgaze of childhood with ataxia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306768
alternative term: Ouvrier-Billson syndrome
definition: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
definition citation: Orphanet
has db xref: ICD-10:G96.8
has db xref: ICD-11:9C83.11
has db xref: MONDO:0008206
has db xref: MeSH:C566817
has db xref: OMIM:168885
has db xref: UMLS:C1868576
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 12.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1179
notation: ORPHA:1179

Axiom
annotated source: Benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDbXref
annotated target: ICD-10:G96.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDbXref
annotated target: ICD-11:9C83.11
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDbXref
annotated target: MONDO:0008206
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDbXref
annotated target: MeSH:C566817
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDbXref
annotated target: OMIM:168885
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDbXref
annotated target: UMLS:C1868576
manual_assertion: E (Exact mapping: the two concepts are equivalent)

phosphomannomutase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79318
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.2
alternative term: CDG1a
alternative term: CDGS
alternative term: Congenital disorder of glycosylation, type Ia
alternative term: PMI
alternative term: PMI1
alternative term: mannose-6-phosphate isomerase
alternative term: phosphomannose isomerase 1
has db xref: ClinVar:PMM2
has db xref: Ensembl:ENSG00000140650
has db xref: Genatlas:PMM2
has db xref: HGNC:9115
has db xref: OMIM:601785
has db xref: Reactome:O15305
has db xref: SwissProt:O15305
symbol: PMM2

peripheral myelin protein 22
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Charcot-Marie-Tooth disease type 1A
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3115
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 640
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_64748
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90658
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_98916
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 640
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p12
alternative term: GAS3
alternative term: HMSNIA
alternative term: HNPP
alternative term: Sp110
has db xref: ClinVar:PMP22
has db xref: Ensembl:ENSG00000109099
has db xref: Genatlas:PMP22
has db xref: HGNC:9118
has db xref: OMIM:601097
has db xref: Reactome:Q01453
has db xref: SwissProt:Q01453
symbol: PMP22

PMS1 homolog 1, mismatch repair system component
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 144
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q32.2
alternative term: MLH2
has db xref: ClinVar:PMS1
has db xref: Ensembl:ENSG00000064933
has db xref: Genatlas:PMS1
has db xref: HGNC:9121
has db xref: OMIM:600258
has db xref: SwissProt:P54277
symbol: PMS1

PMS1 homolog 2, mismatch repair system component
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 144
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_252202
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p22.1
alternative term: HNPCC4
alternative term: H_DJ0042M02.9
alternative term: MLH4
alternative term: PMS-2
has db xref: ClinVar:PMS2
has db xref: Ensembl:ENSG00000122512
has db xref: Genatlas:PMS2
has db xref: HGNC:9122
has db xref: OMIM:600259
has db xref: Reactome:P54278
has db xref: SwissProt:P54278
symbol: PMS2

DNA polymerase gamma, catalytic subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254881
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254886
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254892
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_70595
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 726
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_94125
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_402082
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q26.1
alternative term: POLG1
alternative term: POLGA
has db xref: ClinVar:POLG
has db xref: Ensembl:ENSG00000140521
has db xref: Genatlas:POLG
has db xref: HGNC:9179
has db xref: IUPHAR:3310
has db xref: OMIM:174763
has db xref: Reactome:P54098
has db xref: SwissProt:P54098
symbol: POLG

DNA polymerase gamma 2, accessory subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254892
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q23.3
alternative term: HP55
alternative term: MTPOLB
has db xref: ClinVar:POLG2
has db xref: Ensembl:ENSG00000256525
has db xref: Genatlas:POLG2
has db xref: HGNC:9180
has db xref: OMIM:604983
has db xref: Reactome:Q9UHN1
has db xref: SwissProt:Q9UHN1
symbol: POLG2

DNA polymerase eta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90342
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p21.1
alternative term: RAD30A
alternative term: XP-V
has db xref: ClinVar:POLH
has db xref: Ensembl:ENSG00000170734
has db xref: Genatlas:POLH
has db xref: HGNC:9181
has db xref: OMIM:603968
has db xref: Reactome:Q9Y253
has db xref: SwissProt:Q9Y253
symbol: POLH

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_206564
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_370959
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 899
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 588
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p34.1
alternative term: FLJ20277
alternative term: LGMD2O
alternative term: MGAT1.2
alternative term: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
has db xref: ClinVar:POMGNT1
has db xref: Ensembl:ENSG00000085998
has db xref: Genatlas:POMGNT1
has db xref: HGNC:19139
has db xref: OMIM:606822
has db xref: Reactome:Q8WZA1
has db xref: SwissProt:Q8WZA1
symbol: POMGNT1

protein O-mannosyltransferase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_370959
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_370968
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_370980
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 588
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_86812
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 899
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.13
alternative term: LGMD2K
alternative term: dolichyl-phosphate-mannose-protein mannosyltransferase
has db xref: ClinVar:POMT1
has db xref: Ensembl:ENSG00000130714
has db xref: Genatlas:POMT1
has db xref: HGNC:9202
has db xref: OMIM:607423
has db xref: Reactome:Q9Y6A1
has db xref: SwissProt:Q9Y6A1
symbol: POMT1

protein O-mannosyltransferase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_206559
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_370959
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_370968
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 588
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 899
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q24.3
alternative term: Dolichyl-phosphate-mannose--protein mannosyltransferase
alternative term: LGMD2N
has db xref: ClinVar:POMT2
has db xref: Ensembl:ENSG00000009830
has db xref: Genatlas:POMT2
has db xref: HGNC:19743
has db xref: OMIM:607439
has db xref: Reactome:Q9UKY4
has db xref: SwissProt:Q9UKY4
symbol: POMT2

cytochrome p450 oxidoreductase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_95699
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_63269
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q11.23
alternative term: CYPOR
alternative term: FLJ26468
alternative term: NADPH--hemoprotein reductase
has db xref: ClinVar:POR
has db xref: Ensembl:ENSG00000127948
has db xref: Genatlas:POR
has db xref: HGNC:9208
has db xref: OMIM:124015
has db xref: Reactome:P16435
has db xref: SwissProt:P16435
symbol: POR

POU class 1 homeobox 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_226307
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_95494
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_231679
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p11.2
alternative term: GHF-1
alternative term: PIT-1
alternative term: POU1F1a
alternative term: growth hormone factor 1
alternative term: pituitary transcript factor 1
has db xref: ClinVar:POU1F1
has db xref: Ensembl:ENSG00000064835
has db xref: Genatlas:POU1F1
has db xref: HGNC:9210
has db xref: OMIM:173110
has db xref: SwissProt:P28069
symbol: POU1F1

POU class 3 homeobox 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1435
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90641
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq21.1
alternative term: BRN4
alternative term: DFNX2
alternative term: OTF9
alternative term: Octamer-binding transcription factor 9
alternative term: brain-4
has db xref: ClinVar:POU3F4
has db xref: Ensembl:ENSG00000196767
has db xref: Genatlas:POU3F4
has db xref: HGNC:9217
has db xref: OMIM:300039
has db xref: SwissProt:P49335
symbol: POU3F4

POU class 4 homeobox 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90635
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32
alternative term: BRN3C
has db xref: ClinVar:POU4F3
has db xref: Ensembl:ENSG00000091010
has db xref: Genatlas:POU4F3
has db xref: HGNC:9220
has db xref: OMIM:602460
has db xref: Reactome:Q15319
has db xref: SwissProt:Q15319
symbol: POU4F3

POU class 6 homeobox 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 654
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p14.1
alternative term: RPF-1
alternative term: Retina-derived POU-domain factor-1
has db xref: ClinVar:POU6F2
has db xref: Ensembl:ENSG00000106536
has db xref: Genatlas:POU6F2
has db xref: HGNC:21694
has db xref: OMIM:609062
has db xref: Reactome:P78424
has db xref: SwissProt:P78424
symbol: POU6F2

peroxisome proliferator activated receptor gamma
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_696242
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79083
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 146
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet_251576
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet_251579
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p25.2
alternative term: NR1C3
alternative term: PPARG1
alternative term: PPARG2
alternative term: PPARgamma
has db xref: ClinVar:PPARG
has db xref: Ensembl:ENSG00000132170
has db xref: Genatlas:PPARG
has db xref: HGNC:9236
has db xref: IUPHAR:595
has db xref: OMIM:601487
has db xref: Reactome:P37231
has db xref: SwissProt:P37231
symbol: PPARG

protoporphyrinogen oxidase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79473
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q23.3
alternative term: PPO
has db xref: ClinVar:PPOX
has db xref: Ensembl:ENSG00000143224
has db xref: Genatlas:PPOX
has db xref: HGNC:9280
has db xref: OMIM:600923
has db xref: Reactome:P50336
has db xref: SwissProt:P50336
symbol: PPOX

protein phosphatase 2 regulatory subunit Bbeta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98762
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32
alternative term: B55beta
alternative term: PP2A subunit B isoform beta
alternative term: PR52B
alternative term: PR55-BETA
has db xref: ClinVar:PPP2R2B
has db xref: Ensembl:ENSG00000156475
has db xref: Genatlas:PPP2R2B
has db xref: HGNC:9305
has db xref: OMIM:604325
has db xref: Reactome:Q00005
has db xref: SwissProt:Q00005
symbol: PPP2R2B

palmitoyl-protein thioesterase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_699718
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_699734
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_699739
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_699745
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p34.2
alternative term: CLN1
alternative term: INCL
alternative term: ceroid-lipofuscinosis, neuronal 1, infantile
has db xref: ClinVar:PPT1
has db xref: Ensembl:ENSG00000131238
has db xref: Genatlas:PPT1
has db xref: HGNC:9325
has db xref: IUPHAR:3199
has db xref: OMIM:600722
has db xref: Reactome:P50897
has db xref: SwissProt:P50897
symbol: PPT1

polyglutamine binding protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93945
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93946
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93947
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93950
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.23
has db xref: ClinVar:PQBP1
has db xref: Ensembl:ENSG00000102103
has db xref: Genatlas:PQBP1
has db xref: HGNC:9330
has db xref: OMIM:300463
has db xref: Reactome:O60828
has db xref: SwissProt:O60828
symbol: PQBP1

proline rich mitotic checkpoint control factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_319308
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q23.1
alternative term: RCCP1
has db xref: ClinVar:PRCC
has db xref: Ensembl:ENSG00000143294
has db xref: Genatlas:PRCC
has db xref: HGNC:9343
has db xref: OMIM:179755
has db xref: Reactome:Q92733
has db xref: SwissProt:Q92733
symbol: PRCC

photoreceptor disc component
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q25.1
alternative term: RP36
has db xref: ClinVar:PRCD
has db xref: Ensembl:ENSG00000214140
has db xref: Genatlas:PRCD
has db xref: HGNC:32528
has db xref: OMIM:610598
has db xref: SwissProt:Q00LT1
symbol: PRCD

perforin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_391343
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 540
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 88
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q22.1
alternative term: HPLH2
alternative term: P1
alternative term: PFP
alternative term: Perforin
alternative term: perforin 1 (preforming protein)
has db xref: ClinVar:PRF1
has db xref: Ensembl:ENSG00000180644
has db xref: Genatlas:PRF1
has db xref: HGNC:9360
has db xref: IUPHAR:3100
has db xref: OMIM:170280
has db xref: SwissProt:P14222
symbol: PRF1

Beta-mannosidosis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_207018
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217581
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79215
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93448
alternative term: Beta-mannosidase deficiency
definition: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
definition citation: Orphanet
has db xref: ICD-10:E77.1
has db xref: ICD-11:5C56.21
has db xref: MONDO:0009562
has db xref: MeSH:D044905
has db xref: OMIM:248510
has db xref: UMLS:C4048196
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Adult
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Czech Republic AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: Europe AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: Netherlands AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/118
notation: ORPHA:118

Axiom
annotated source: Beta-mannosidosis
annotated property: hasDbXref
annotated target: ICD-10:E77.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code).

Axiom
annotated source: Beta-mannosidosis
annotated property: hasDbXref
annotated target: ICD-11:5C56.21
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Beta-mannosidosis
annotated property: hasDbXref
annotated target: MONDO:0009562
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-mannosidosis
annotated property: hasDbXref
annotated target: MeSH:D044905
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-mannosidosis
annotated property: hasDbXref
annotated target: OMIM:248510
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-mannosidosis
annotated property: hasDbXref
annotated target: UMLS:C4048196
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Ataxia-hypogonadism-choroidal dystrophy syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_181387
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_716342
alternative term: Boucher-Neuhäuser syndrome
definition: A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.
definition citation: Orphanet
has db xref: ICD-10:G11.8
has db xref: MONDO:0008980
has db xref: MeSH:C565850
has db xref: OMIM:215470
has db xref: UMLS:C1859093
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1180
notation: ORPHA:1180

Axiom
annotated source: Ataxia-hypogonadism-choroidal dystrophy syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ataxia-hypogonadism-choroidal dystrophy syndrome
annotated property: hasDbXref
annotated target: MONDO:0008980
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-hypogonadism-choroidal dystrophy syndrome
annotated property: hasDbXref
annotated target: MeSH:C565850
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-hypogonadism-choroidal dystrophy syndrome
annotated property: hasDbXref
annotated target: OMIM:215470
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-hypogonadism-choroidal dystrophy syndrome
annotated property: hasDbXref
annotated target: UMLS:C1859093
manual_assertion: E (Exact mapping: the two concepts are equivalent)

proteoglycan 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2848
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q31.1
alternative term: FLJ32635
alternative term: HAPO
alternative term: JCAP
alternative term: Jacobs camptodactyly-arthropathy-pericarditis syndrome
alternative term: MSF
alternative term: SZP
alternative term: articular superficial zone protein
alternative term: bG174L6.2
alternative term: bG174L6.2 (MSF: megakaryocyte stimulating factor )
alternative term: camptodactyly, arthropathy, coxa vara, pericarditis syndrome
alternative term: lubricin
alternative term: megakaryocyte stimulating factor
has db xref: ClinVar:PRG4
has db xref: Ensembl:ENSG00000116690
has db xref: Genatlas:PRG4
has db xref: HGNC:9364
has db xref: OMIM:604283
has db xref: SwissProt:Q92954
symbol: PRG4

protein kinase AMP-activated non-catalytic subunit gamma 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_439854
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q36.1
alternative term: AAKG
alternative term: AAKG2
alternative term: AMPK gamma2
alternative term: CMH6
alternative term: H91620p
alternative term: WPWS
has db xref: ClinVar:PRKAG2
has db xref: Ensembl:ENSG00000106617
has db xref: Genatlas:PRKAG2
has db xref: HGNC:9386
has db xref: IUPHAR:1546
has db xref: OMIM:602743
has db xref: Reactome:Q9UGJ0
has db xref: SwissProt:Q9UGJ0
symbol: PRKAG2

protein kinase cAMP-dependent type I regulatory subunit alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 615
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_647772
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 1501
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 520
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1359
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 950
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q24.2
alternative term: CNC1
alternative term: Carney complex type 1
has db xref: ClinVar:PRKAR1A
has db xref: Ensembl:ENSG00000108946
has db xref: Genatlas:PRKAR1A
has db xref: HGNC:9388
has db xref: IUPHAR:1472
has db xref: OMIM:188830
has db xref: Reactome:P10644
has db xref: SwissProt:P10644
symbol: PRKAR1A

protein kinase C gamma
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98763
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.42
alternative term: MGC57564
alternative term: PKC-gamma
alternative term: PKC?
alternative term: PKCC
alternative term: PKCÎ³
has db xref: ClinVar:PRKCG
has db xref: Ensembl:ENSG00000126583
has db xref: Genatlas:PRKCG
has db xref: HGNC:9402
has db xref: IUPHAR:1484
has db xref: OMIM:176980
has db xref: Reactome:P05129
has db xref: SwissProt:P05129
symbol: PRKCG

PRKCSH beta subunit of glucosidase II
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2924
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.2
alternative term: 80K-H
alternative term: AGE-R2
alternative term: GIIB
alternative term: GIIbeta
alternative term: GluIIbeta
alternative term: PKCSH
alternative term: VASAP-60
alternative term: advanced glycation end-product receptor 2
alternative term: glucosidase 2 subunit beta
alternative term: glucosidase II beta subunit
alternative term: hepatocystin
has db xref: ClinVar:PRKCSH
has db xref: Ensembl:ENSG00000130175
has db xref: Genatlas:PRKCSH
has db xref: HGNC:9411
has db xref: OMIM:177060
has db xref: Reactome:P14314
has db xref: SwissProt:P14314
symbol: PRKCSH

prion protein (Kanno blood group)
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_157941
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280397
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_282166
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 356
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_397606
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 466
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_454745
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20p13
alternative term: AltPrP
alternative term: CD230
alternative term: Creutzfeldt-Jakob disease
alternative term: Gerstmann-Strausler-Scheinker syndrome
alternative term: PRP
alternative term: fatal familial insomnia
alternative term: p27-30
has db xref: ClinVar:PRNP
has db xref: Ensembl:ENSG00000171867
has db xref: Genatlas:PRNP
has db xref: HGNC:9449
has db xref: OMIM:176640
has db xref: Reactome:P04156
has db xref: SwissProt:P04156
symbol: PRNP

protein C, inactivator of coagulation factors Va and VIIIa
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 745
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q14.3
alternative term: coagulation factor XIV
alternative term: prepro-protein C
has db xref: ClinVar:PROC
has db xref: Ensembl:ENSG00000115718
has db xref: Genatlas:PROC
has db xref: HGNC:9451
has db xref: IUPHAR:2396
has db xref: OMIM:612283
has db xref: Reactome:P04070
has db xref: SwissProt:P04070
symbol: PROC

proline dehydrogenase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 419
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q11.21
alternative term: HSPOX2
alternative term: PIG6
alternative term: POX
alternative term: PRODH1
alternative term: PRODH2
alternative term: TP53I6
alternative term: p53 Inducible gene 6
alternative term: proline oxidase
has db xref: ClinVar:PRODH
has db xref: Ensembl:ENSG00000100033
has db xref: Genatlas:PRODH
has db xref: HGNC:9453
has db xref: OMIM:606810
has db xref: Reactome:O43272
has db xref: SwissProt:O43272
symbol: PRODH

prokineticin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 432
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 478
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p13
alternative term: BV8
alternative term: KAL4
alternative term: MIT1
alternative term: PK2
alternative term: protein Bv8 homolog
has db xref: ClinVar:PROK2
has db xref: Ensembl:ENSG00000163421
has db xref: Genatlas:PROK2
has db xref: HGNC:18455
has db xref: OMIM:607002
has db xref: Reactome:Q9HC23
has db xref: SwissProt:Q9HC23
symbol: PROK2

prokineticin receptor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3157
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_95496
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 432
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 478
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20p12.3
alternative term: GPR73b
alternative term: GPRg2
alternative term: PKR2
alternative term: dJ680N4.3
has db xref: ClinVar:PROKR2
has db xref: Ensembl:ENSG00000101292
has db xref: Genatlas:PROKR2
has db xref: HGNC:15836
has db xref: IUPHAR:336
has db xref: OMIM:607123
has db xref: Reactome:Q8NFJ6
has db xref: SwissProt:Q8NFJ6
symbol: PROKR2

PROP paired-like homeobox 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_226307
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90695
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_95494
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q35.3
has db xref: ClinVar:PROP1
has db xref: Ensembl:ENSG00000175325
has db xref: Genatlas:PROP1
has db xref: HGNC:9455
has db xref: OMIM:601538
has db xref: Reactome:O75360
has db xref: SwissProt:O75360
symbol: PROP1

protein S
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 743
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q11.1
has db xref: ClinVar:PROS1
has db xref: Ensembl:ENSG00000184500
has db xref: Genatlas:PROS1
has db xref: HGNC:9456
has db xref: OMIM:176880
has db xref: Reactome:P07225
has db xref: SwissProt:P07225
symbol: PROS1

pre-mRNA processing factor 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q21.2
alternative term: HPRP3
alternative term: Prp3
alternative term: SNRNP90
alternative term: U4/U6 small nuclear ribonucleoprotein Prp3
alternative term: hPrp3
has db xref: ClinVar:PRPF3
has db xref: Ensembl:ENSG00000117360
has db xref: Genatlas:PRPF3
has db xref: HGNC:17348
has db xref: OMIM:607301
has db xref: Reactome:O43395
has db xref: SwissProt:O43395
symbol: PRPF3

pre-mRNA processing factor 31
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.42
alternative term: NY-BR-99
alternative term: PRP31
alternative term: SNRNP61
alternative term: U4/U6 small nuclear ribonucleoprotein Prp31
alternative term: hPrp31
has db xref: ClinVar:PRPF31
has db xref: Ensembl:ENSG00000105618
has db xref: Genatlas:PRPF31
has db xref: HGNC:15446
has db xref: OMIM:606419
has db xref: Reactome:Q8WWY3
has db xref: SwissProt:Q8WWY3
symbol: PRPF31

pre-mRNA processing factor 8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_528084
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.3
alternative term: PRPC8
alternative term: Prp8
alternative term: SNRNP220
alternative term: hPrp8
has db xref: ClinVar:PRPF8
has db xref: Ensembl:ENSG00000174231
has db xref: Genatlas:PRPF8
has db xref: HGNC:17340
has db xref: OMIM:607300
has db xref: Reactome:Q6P2Q9
has db xref: SwissProt:Q6P2Q9
symbol: PRPF8

peripherin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_52427
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75377
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99000
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99001
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99003
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_227796
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 827
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p21.1
alternative term: CACD2
alternative term: TSPAN22
alternative term: choroidal dystrophy, central areolar 2
alternative term: rd2
alternative term: retinal peripherin
alternative term: tetraspanin-22
has db xref: ClinVar:PRPH2
has db xref: Ensembl:ENSG00000112619
has db xref: Genatlas:PRPH2
has db xref: HGNC:9942
has db xref: OMIM:179605
has db xref: SwissProt:P23942
symbol: PRPH2

phosphoribosyl pyrophosphate synthetase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90625
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99014
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Lethal ataxia with deafness and optic atrophy
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_411536
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_423479
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_411543
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq22.3
alternative term: CMTX5
alternative term: DFNX1
alternative term: PPRibP
alternative term: PRS I
alternative term: PRS-I
alternative term: ribose-phosphate diphosphokinase 1
has db xref: ClinVar:PRPS1
has db xref: Ensembl:ENSG00000147224
has db xref: Genatlas:PRPS1
has db xref: HGNC:9462
has db xref: OMIM:311850
has db xref: Reactome:P60891
has db xref: SwissProt:P60891
symbol: PRPS1

serine protease 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 676
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q34
has db xref: ClinVar:PRSS1
has db xref: Ensembl:ENSG00000204983
has db xref: Genatlas:PRSS1
has db xref: HGNC:9475
has db xref: IUPHAR:2397
has db xref: OMIM:276000
has db xref: Reactome:P07477
has db xref: SwissProt:P07477
symbol: PRSS1

serine protease 12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_88616
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q26
alternative term: BSSP-3
alternative term: MRT1
alternative term: brain-specific serine protease 3
alternative term: mental retardation, autosomal recessive 1
alternative term: motopsin
alternative term: neurotrypsin
has db xref: ClinVar:PRSS12
has db xref: Ensembl:ENSG00000164099
has db xref: Genatlas:PRSS12
has db xref: HGNC:9477
has db xref: OMIM:606709
has db xref: SwissProt:P56730
symbol: PRSS12

proteinase 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 900
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.3
alternative term: ACPA
alternative term: AGP7
alternative term: C-ANCA
alternative term: MBT
alternative term: P29
alternative term: PR-3
alternative term: Wegener granulomatosis autoantigen
alternative term: myeloblastin
alternative term: serine proteinase, neutrophil
has db xref: ClinVar:PRTN3
has db xref: Ensembl:ENSG00000196415
has db xref: Genatlas:PRTN3
has db xref: HGNC:9495
has db xref: IUPHAR:2401
has db xref: OMIM:177020
has db xref: Reactome:P24158
has db xref: SwissProt:P24158
symbol: PRTN3

periaxin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99952
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_64748
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.2
alternative term: KIAA1620
has db xref: ClinVar:PRX
has db xref: Ensembl:ENSG00000105227
has db xref: Genatlas:PRX
has db xref: HGNC:13797
has db xref: OMIM:605725
has db xref: SwissProt:Q9BXM0
symbol: PRX

prosaposin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139406
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_206436
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309252
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309256
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309263
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309271
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q22.1
alternative term: precursor of saposins
alternative term: saposin-A
alternative term: saposin-B
alternative term: saposin-C
alternative term: saposin-D
alternative term: variant Gaucher disease and variant metachromatic leukodystrophy
has db xref: ClinVar:PSAP
has db xref: Ensembl:ENSG00000197746
has db xref: Genatlas:PSAP
has db xref: HGNC:9498
has db xref: OMIM:176801
has db xref: Reactome:P07602
has db xref: SwissProt:P07602
symbol: PSAP

presenilin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Semantic dementia
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Progressive non-fluent aphasia
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Early-onset autosomal dominant Alzheimer disease
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_275864
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q24.2
alternative term: FAD
alternative term: PS-1
alternative term: PS1
alternative term: PSNL1
alternative term: S182
alternative term: familial Alzheimer Disease
has db xref: ClinVar:PSEN1
has db xref: Ensembl:ENSG00000080815
has db xref: Genatlas:PSEN1
has db xref: HGNC:9508
has db xref: IUPHAR:2402
has db xref: OMIM:104311
has db xref: Reactome:P49768
has db xref: SwissProt:P49768
symbol: PSEN1

presenilin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Early-onset autosomal dominant Alzheimer disease
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q42.13
alternative term: AD3L
alternative term: Alzheimer disease 3-like
alternative term: E5-1
alternative term: PS-2
alternative term: PS2
alternative term: STM2
has db xref: ClinVar:PSEN2
has db xref: Ensembl:ENSG00000143801
has db xref: Genatlas:PSEN2
has db xref: HGNC:9509
has db xref: IUPHAR:2403
has db xref: OMIM:600759
has db xref: Reactome:P49810
has db xref: SwissProt:P49810
symbol: PSEN2

phosphoserine phosphatase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_583612
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79350
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p11.2
has db xref: ClinVar:PSPH
has db xref: Ensembl:ENSG00000146733
has db xref: Genatlas:PSPH
has db xref: HGNC:9577
has db xref: OMIM:172480
has db xref: Reactome:P78330
has db xref: SwissProt:P78330
symbol: PSPH

proline-serine-threonine phosphatase interacting protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_251523
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_69126
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q24.3
alternative term: CD2 antigen-binding protein 1
alternative term: CD2 cytoplasmic tail-binding protein
alternative term: CD2BP1
alternative term: CD2BP1L
alternative term: CD2BP1S
alternative term: H-PIP
alternative term: PAPAS
alternative term: PEST phosphatase-interacting protein 1
alternative term: PSTPIP
has db xref: ClinVar:PSTPIP1
has db xref: Ensembl:ENSG00000140368
has db xref: Genatlas:PSTPIP1
has db xref: HGNC:9580
has db xref: OMIM:606347
has db xref: Reactome:O43586
has db xref: SwissProt:O43586
symbol: PSTPIP1

patched 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_220386
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280195
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280200
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93924
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93925
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93926
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 2353
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_77301
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 377
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q22.32
alternative term: BCNS
alternative term: SLC65B1
has db xref: ClinVar:PTCH1
has db xref: Ensembl:ENSG00000185920
has db xref: Genatlas:PTCH1
has db xref: HGNC:9585
has db xref: OMIM:601309
has db xref: Reactome:Q13635
has db xref: SwissProt:Q13635
symbol: PTCH1

patched 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_141276
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 377
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p34.1
alternative term: SLC65B2
has db xref: ClinVar:PTCH2
has db xref: Ensembl:ENSG00000117425
has db xref: Genatlas:PTCH2
has db xref: HGNC:9586
has db xref: OMIM:603673
has db xref: Reactome:Q9Y6C5
has db xref: SwissProt:Q9Y6C5
symbol: PTCH2

phosphatase and tensin homolog
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bannayan-Riley-Ruvalcaba syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_137608
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_210548
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2969
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_494547
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_494550
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_500464
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_500478
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_502363
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_502366
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_79076
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 145
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 201
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_65285
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q23.31
alternative term: MMAC1
alternative term: PTEN1
alternative term: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
alternative term: TEP1
alternative term: mutated in multiple advanced cancers 1
has db xref: ClinVar:PTEN
has db xref: Ensembl:ENSG00000171862
has db xref: Genatlas:PTEN
has db xref: HGNC:9588
has db xref: IUPHAR:2497
has db xref: OMIM:601728
has db xref: Reactome:P60484
has db xref: SwissProt:P60484
symbol: PTEN

pancreas associated transcription factor 1a
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2805
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_65288
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10p12.2
alternative term: PTF1-p48
alternative term: bHLHa29
alternative term: p48
has db xref: ClinVar:PTF1A
has db xref: Ensembl:ENSG00000168267
has db xref: Genatlas:PTF1A
has db xref: HGNC:23734
has db xref: OMIM:607194
has db xref: Reactome:Q7RTS3
has db xref: SwissProt:Q7RTS3
symbol: PTF1A

parathyroid hormone
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_189466
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.3
alternative term: PTH1
alternative term: parathormone
alternative term: parathyrin
alternative term: parathyroid hormone 1
alternative term: prepro-PTH
alternative term: preproparathyroid hormone
has db xref: ClinVar:PTH
has db xref: Ensembl:ENSG00000152266
has db xref: Genatlas:PTH
has db xref: HGNC:9606
has db xref: OMIM:168450
has db xref: Reactome:P01270
has db xref: SwissProt:P01270
symbol: PTH

parathyroid hormone 1 receptor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_50945
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79106
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 296
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_412206
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_33067
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p21.31
has db xref: ClinVar:PTH1R
has db xref: Ensembl:ENSG00000160801
has db xref: Genatlas:PTH1R
has db xref: HGNC:9608
has db xref: IUPHAR:331
has db xref: OMIM:168468
has db xref: Reactome:Q03431
has db xref: SwissProt:Q03431
symbol: PTH1R

protein tyrosine phosphatase non-receptor type 11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 500
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 648
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_86834
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2499
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.13
alternative term: BPTP3
alternative term: PTP2C
alternative term: SH-PTP2
alternative term: SH2 domain-containing protein tyrosine phosphatase 2
alternative term: SHP-2
alternative term: SHP2
has db xref: ClinVar:PTPN11
has db xref: Ensembl:ENSG00000179295
has db xref: Genatlas:PTPN11
has db xref: HGNC:9644
has db xref: IUPHAR:3203
has db xref: OMIM:176876
has db xref: Reactome:Q06124
has db xref: SwissProt:Q06124
symbol: PTPN11

protein tyrosine phosphatase receptor type C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_169157
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q31.3-q32.1
alternative term: B220
alternative term: CD45R
alternative term: GP180
alternative term: LCA
alternative term: LY5
alternative term: T200
alternative term: glycoprotein 180
alternative term: leukocyte-common antigen
has db xref: ClinVar:PTPRC
has db xref: Ensembl:ENSG00000081237
has db xref: Genatlas:PTPRC
has db xref: HGNC:9666
has db xref: IUPHAR:1852
has db xref: OMIM:151460
has db xref: Reactome:P08575
has db xref: SwissProt:P08575
symbol: PTPRC

6-pyruvoyltetrahydropterin synthase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 13
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.1
alternative term: PTPS
has db xref: ClinVar:PTS
has db xref: Ensembl:ENSG00000150787
has db xref: Genatlas:PTS
has db xref: HGNC:9689
has db xref: OMIM:612719
has db xref: Reactome:Q03393
has db xref: SwissProt:Q03393
symbol: PTS

pseudouridine synthase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2598
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.33
alternative term: MLASA1
alternative term: mitochondrial myopathy and sideroblastic anemia 1
alternative term: tRNA pseudouridine(38-40) synthase
has db xref: ClinVar:PUS1
has db xref: Ensembl:ENSG00000177192
has db xref: Genatlas:PUS1
has db xref: HGNC:15508
has db xref: OMIM:608109
has db xref: Reactome:Q9Y606
has db xref: SwissProt:Q9Y606
symbol: PUS1

nectin cell adhesion molecule 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3253
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_141291
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_199302
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_199306
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.3
alternative term: CD111
alternative term: CLPED1
alternative term: HIgR
alternative term: Nectin-1
alternative term: OFC7
alternative term: PRR
alternative term: PRR1
alternative term: PVRR1
alternative term: SK-12
alternative term: nectin
has db xref: ClinVar:NECTIN1
has db xref: Ensembl:ENSG00000110400
has db xref: Genatlas:PVRL1
has db xref: HGNC:9706
has db xref: OMIM:600644
has db xref: Reactome:Q15223
has db xref: SwissProt:Q15223
symbol: NECTIN1

peroxisomal biogenesis factor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 44
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_642965
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 772
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 912
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q21.13
alternative term: PAF-1
alternative term: PMP35
alternative term: RNF72
alternative term: ZWS3
alternative term: Zellweger syndrome
alternative term: peroxin 2
has db xref: ClinVar:PEX2
has db xref: Ensembl:ENSG00000164751
has db xref: Genatlas:PXMP3
has db xref: HGNC:9717
has db xref: OMIM:170993
has db xref: Reactome:P28328
has db xref: SwissProt:P28328
symbol: PEX2

glycogen phosphorylase L
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 369
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q22.1
alternative term: GSD6
alternative term: Hers disease
alternative term: glycogen phosphorylase, liver form
alternative term: glycogen storage disease type VI
has db xref: ClinVar:PYGL
has db xref: Ensembl:ENSG00000100504
has db xref: Genatlas:PYGL
has db xref: HGNC:9725
has db xref: OMIM:613741
has db xref: Reactome:P06737
has db xref: SwissProt:P06737
symbol: PYGL

glycogen phosphorylase, muscle associated
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 368
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.1
alternative term: GSD5
alternative term: McArdle syndrome
alternative term: glycogen phosphorylase, muscle form
alternative term: glycogen storage disease type V
alternative term: myophosphorylase
has db xref: ClinVar:PYGM
has db xref: Ensembl:ENSG00000068976
has db xref: Genatlas:PYGM
has db xref: HGNC:9726
has db xref: OMIM:608455
has db xref: Reactome:P11217
has db xref: SwissProt:P11217
symbol: PYGM

quinoid dihydropteridine reductase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 226
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4p15.32
alternative term: 6,7-dihydropteridine reductase
alternative term: DHPR
alternative term: PKU2
alternative term: SDR33C1
alternative term: short chain dehydrogenase/reductase family 33C, member 1
has db xref: ClinVar:QDPR
has db xref: Ensembl:ENSG00000151552
has db xref: Genatlas:QDPR
has db xref: HGNC:9752
has db xref: OMIM:612676
has db xref: Reactome:P09417
has db xref: SwissProt:P09417
symbol: QDPR

RAB27A, member RAS oncogene family
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79477
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q21.3
alternative term: GS2
alternative term: HsT18676
alternative term: RAB27
alternative term: RAM
has db xref: ClinVar:RAB27A
has db xref: Ensembl:ENSG00000069974
has db xref: Genatlas:RAB27A
has db xref: HGNC:9766
has db xref: IUPHAR:2916
has db xref: OMIM:603868
has db xref: Reactome:P51159
has db xref: SwissProt:P51159
symbol: RAB27A

RAB3 GTPase activating protein catalytic subunit 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1387
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2510
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q21.3
alternative term: KIAA0066
alternative term: RAB3GAP
alternative term: RAB3GAP130
alternative term: WARBM1
has db xref: ClinVar:RAB3GAP1
has db xref: Ensembl:ENSG00000115839
has db xref: Genatlas:RAB3GAP1
has db xref: HGNC:17063
has db xref: OMIM:602536
has db xref: Reactome:Q15042
has db xref: SwissProt:Q15042
symbol: RAB3GAP1

Spastic ataxia with congenital miosis
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_316235
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519286
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522568
alternative term: Autosomal dominant spastic ataxia type 7
alternative term: SPAX7
definition: Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
definition citation: Orphanet
has db xref: ICD-10:G11.4
has db xref: MONDO:0007165
has db xref: MeSH:C566247
has db xref: OMIM:108650
has db xref: UMLS:C1862441
has_inheritance: Autosomal dominant
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 3.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1182
notation: ORPHA:1182

Axiom
annotated source: Spastic ataxia with congenital miosis
annotated property: hasDbXref
annotated target: ICD-10:G11.4
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spastic ataxia with congenital miosis
annotated property: hasDbXref
annotated target: MONDO:0007165
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spastic ataxia with congenital miosis
annotated property: hasDbXref
annotated target: MeSH:C566247
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spastic ataxia with congenital miosis
annotated property: hasDbXref
annotated target: OMIM:108650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spastic ataxia with congenital miosis
annotated property: hasDbXref
annotated target: UMLS:C1862441
manual_assertion: E (Exact mapping: the two concepts are equivalent)

RAB3 GTPase activating non-catalytic protein subunit 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_401830
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1387
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2510
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q41
alternative term: DKFZP434D245
alternative term: KIAA0839
alternative term: RAB3-GAP150
alternative term: SPG69
has db xref: ClinVar:RAB3GAP2
has db xref: Ensembl:ENSG00000118873
has db xref: Genatlas:RAB3GAP2
has db xref: HGNC:17168
has db xref: OMIM:609275
has db xref: Reactome:Q9H2M9
has db xref: SwissProt:Q9H2M9
symbol: RAB3GAP2

RAB7A, member RAS oncogene family
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99936
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q21.3
has db xref: ClinVar:RAB7A
has db xref: Ensembl:ENSG00000075785
has db xref: Genatlas:RAB7A
has db xref: HGNC:9788
has db xref: OMIM:602298
has db xref: Reactome:P51149
has db xref: SwissProt:P51149
symbol: RAB7A

RAD51 recombinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_238722
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 84
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 145
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q15.1
alternative term: BRCA1/BRCA2-containing complex, subunit 5
alternative term: BRCC5
alternative term: FANCR
alternative term: HsRad51
alternative term: HsT16930
has db xref: ClinVar:RAD51
has db xref: Ensembl:ENSG00000051180
has db xref: Genatlas:RAD51
has db xref: HGNC:9817
has db xref: OMIM:179617
has db xref: Reactome:Q06609
has db xref: SwissProt:Q06609
symbol: RAD51

recombination activating 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_157949
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_231154
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_331206
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_39041
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p12
alternative term: MGC43321
alternative term: RING finger protein 74
alternative term: RNF74
alternative term: V(D)J recombination-activating protein 1
alternative term: recombination activating protein 1
has db xref: ClinVar:RAG1
has db xref: Ensembl:ENSG00000166349
has db xref: Genatlas:RAG1
has db xref: HGNC:9831
has db xref: OMIM:179615
has db xref: Reactome:P15918
has db xref: SwissProt:P15918
symbol: RAG1

recombination activating 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_157949
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_331206
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_39041
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p12
has db xref: ClinVar:RAG2
has db xref: Ensembl:ENSG00000175097
has db xref: Genatlas:RAG2
has db xref: HGNC:9832
has db xref: OMIM:179616
has db xref: Reactome:P55895
has db xref: SwissProt:P55895
symbol: RAG2

retinoic acid induced 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 819
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 1713
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_477817
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p11.2
alternative term: DKFZP434A139
alternative term: KIAA1820
alternative term: MGC12824
alternative term: SMS
has db xref: ClinVar:RAI1
has db xref: Ensembl:ENSG00000108557
has db xref: Genatlas:RAI1
has db xref: HGNC:9834
has db xref: OMIM:607642
has db xref: Reactome:Q7Z5J4
has db xref: SwissProt:Q7Z5J4
symbol: RAI1

receptor associated protein of the synapse
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_33108
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 994
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p11.2
alternative term: CMS1D
alternative term: CMS1E
alternative term: RNF205
alternative term: rapsyn
has db xref: ClinVar:RAPSN
has db xref: Ensembl:ENSG00000165917
has db xref: Genatlas:RAPSN
has db xref: HGNC:9863
has db xref: OMIM:601592
has db xref: SwissProt:Q13702
symbol: RAPSN

retinoic acid receptor alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 520
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q21.2
alternative term: NR1B1
alternative term: RAR
alternative term: RAR-alpha
alternative term: RARalpha
has db xref: ClinVar:RARA
has db xref: Ensembl:ENSG00000131759
has db xref: Genatlas:RARA
has db xref: HGNC:9864
has db xref: IUPHAR:590
has db xref: OMIM:180240
has db xref: Reactome:P10276
has db xref: SwissProt:P10276
symbol: RARA

RAS p21 protein activator 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_693907
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90307
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q14.3
alternative term: CM-AVM
alternative term: GAP
alternative term: Ras GTPase-activating protein 1
alternative term: capillary malformation-arteriovenous malformation
alternative term: p120
alternative term: p120 RAS GTPase activating protein
alternative term: p120GAP
alternative term: p120RASGAP
has db xref: ClinVar:RASA1
has db xref: Ensembl:ENSG00000145715
has db xref: Genatlas:RASA1
has db xref: HGNC:9871
has db xref: OMIM:139150
has db xref: Reactome:P20936
has db xref: SwissProt:P20936
symbol: RASA1

RB transcriptional corepressor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_357034
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_70573
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 1587
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 668
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_357027
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q14.2
alternative term: PPP1R130
alternative term: RB
alternative term: prepro-retinoblastoma-associated protein
alternative term: protein phosphatase 1, regulatory subunit 130
has db xref: ClinVar:RB1
has db xref: Ensembl:ENSG00000139687
has db xref: Genatlas:RB1
has db xref: HGNC:9884
has db xref: OMIM:614041
has db xref: Reactome:P06400
has db xref: SwissProt:P06400
symbol: RB1

RD3 regulator of GUCY2D
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 65
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q32.3
alternative term: LCA12
has db xref: ClinVar:RD3
has db xref: Ensembl:ENSG00000198570
has db xref: Genatlas:RD3
has db xref: HGNC:19689
has db xref: OMIM:180040
has db xref: Reactome:Q7Z3Z2
has db xref: SwissProt:Q7Z3Z2
symbol: RD3

retinol dehydrogenase 12
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 65
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q24.1
alternative term: FLJ30273
alternative term: LCA13
alternative term: RP53
alternative term: SDR7C2
alternative term: short chain dehydrogenase/reductase family 7C, member 2
has db xref: ClinVar:RDH12
has db xref: Ensembl:ENSG00000139988
has db xref: Genatlas:RDH12
has db xref: HGNC:19977
has db xref: OMIM:608830
has db xref: Reactome:Q96NR8
has db xref: SwissProt:Q96NR8
symbol: RDH12

retinol dehydrogenase 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_227796
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_52427
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q13.2
alternative term: HSD17B9
alternative term: SDR9C5
alternative term: short chain dehydrogenase/reductase family 9C, member 5
has db xref: ClinVar:RDH5
has db xref: Ensembl:ENSG00000135437
has db xref: Genatlas:RDH5
has db xref: HGNC:9940
has db xref: OMIM:601617
has db xref: Reactome:Q92781
has db xref: SwissProt:Q92781
symbol: RDH5

RecQ like helicase 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1225
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_221016
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3021
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q24.3
alternative term: RecQ4
has db xref: ClinVar:RECQL4
has db xref: Ensembl:ENSG00000160957
has db xref: Genatlas:RECQL4
has db xref: HGNC:9949
has db xref: OMIM:603780
has db xref: SwissProt:O94761
symbol: RECQL4

receptor accessory protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Autosomal dominant spastic paraplegia type 31
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139536
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p11.2
alternative term: FLJ13110
alternative term: SPG31
alternative term: Yip2a
alternative term: receptor expression enhancing protein 1
has db xref: ClinVar:REEP1
has db xref: Ensembl:ENSG00000068615
has db xref: Genatlas:REEP1
has db xref: HGNC:25786
has db xref: OMIM:609139
has db xref: Reactome:Q9H902
has db xref: SwissProt:Q9H902
symbol: REEP1

reelin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Epilepsy with auditory features
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_89844
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q22.1
alternative term: PRO1598
alternative term: RL
has db xref: ClinVar:RELN
has db xref: Ensembl:ENSG00000189056
has db xref: Genatlas:RELN
has db xref: HGNC:9957
has db xref: OMIM:600514
has db xref: Reactome:P78509
has db xref: SwissProt:P78509
symbol: RELN

ret proto-oncogene
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_247698
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_247709
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 388
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93100
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99361
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99803
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_276621
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 146
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_29072
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1848
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q11.21
alternative term: CDHF12
alternative term: CDHR16
alternative term: PTC
alternative term: RET receptor tyrosine kinase
alternative term: RET51
alternative term: cadherin-related family member 16
alternative term: rearranged during transfection
has db xref: ClinVar:RET
has db xref: Ensembl:ENSG00000165731
has db xref: Genatlas:RET
has db xref: HGNC:9967
has db xref: IUPHAR:2185
has db xref: OMIM:164761
has db xref: Reactome:P07949
has db xref: SwissProt:P07949
symbol: RET

replication factor C subunit 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 904
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q11.23
alternative term: A1
alternative term: RFC40
alternative term: activator 1
has db xref: ClinVar:RFC2
has db xref: Ensembl:ENSG00000049541
has db xref: Genatlas:RFC2
has db xref: HGNC:9970
has db xref: OMIM:600404
has db xref: Reactome:P35250
has db xref: SwissProt:P35250
symbol: RFC2

regulatory factor X5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 572
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q21.3
has db xref: ClinVar:RFX5
has db xref: Ensembl:ENSG00000143390
has db xref: Genatlas:RFX5
has db xref: HGNC:9986
has db xref: OMIM:601863
has db xref: Reactome:P48382
has db xref: SwissProt:P48382
symbol: RFX5

regulatory factor X associated ankyrin containing protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 572
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.11
alternative term: ANKRA1
alternative term: BLS
alternative term: DNA-binding protein RFXANK
alternative term: F14150_1
alternative term: MGC138628
alternative term: RFX-B
alternative term: RFX-Bdelta4
alternative term: ankyrin repeat-containing regulatory factor X-associated protein
alternative term: regulatory factor X subunit B
has db xref: ClinVar:RFXANK
has db xref: Ensembl:ENSG00000064490
has db xref: Genatlas:RFXANK
has db xref: HGNC:9987
has db xref: OMIM:603200
has db xref: SwissProt:O14593
symbol: RFXANK

regulatory factor X associated protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 572
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q13.3
has db xref: ClinVar:RFXAP
has db xref: Ensembl:ENSG00000133111
has db xref: Genatlas:RFXAP
has db xref: HGNC:9988
has db xref: OMIM:601861
has db xref: SwissProt:O00287
symbol: RFXAP

retinal G protein coupled receptor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q23.1
alternative term: RGR-opsin
alternative term: RP44
has db xref: ClinVar:RGR
has db xref: Ensembl:ENSG00000148604
has db xref: Genatlas:RGR
has db xref: HGNC:9990
has db xref: OMIM:600342
has db xref: Reactome:P47804
has db xref: SwissProt:P47804
symbol: RGR

regulator of G protein signaling 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75374
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q24.1
alternative term: MGC111763
alternative term: MGC26458
alternative term: PERRS
alternative term: RGS9L
alternative term: regulator of G protein signalling 9
alternative term: regulator of G protein signalling 9L
alternative term: regulator of G-protein signaling 9L
has db xref: ClinVar:RGS9
has db xref: Ensembl:ENSG00000108370
has db xref: Genatlas:RGS9
has db xref: HGNC:10004
has db xref: IUPHAR:2817
has db xref: OMIM:604067
has db xref: Reactome:O75916
has db xref: SwissProt:O75916
symbol: RGS9

Opsoclonus-myoclonus syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Brain inflammatory disease
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_306753
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_36388
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_519341
alternative term: Ataxo-opso-myoclonus syndrome
alternative term: Dancing eye syndrome
alternative term: Dancing eye-dancing feet syndrome
alternative term: Kinsbourne syndrome
alternative term: OMA syndrome
alternative term: OMS
alternative term: Opsoclonus-myoclonus-ataxia syndrome
alternative term: POMA syndrome
alternative term: Paraneoplastic opsoclonus-myoclonus
alternative term: Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
definition: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
definition citation: Orphanet
has db xref: ICD-10:G25.3
has db xref: ICD-11:9C85.02
has db xref: MONDO:0015247
has db xref: MeSH:D053578
has db xref: MedDRA:10053854
has db xref: UMLS:C0393626
has_inheritance: Not applicable
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000
present_in: United Kingdom AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1183
notation: ORPHA:1183

Axiom
annotated source: Opsoclonus-myoclonus syndrome
annotated property: hasDbXref
annotated target: ICD-10:G25.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Opsoclonus-myoclonus syndrome
annotated property: hasDbXref
annotated target: ICD-11:9C85.02
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Opsoclonus-myoclonus syndrome
annotated property: hasDbXref
annotated target: MONDO:0015247
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Opsoclonus-myoclonus syndrome
annotated property: hasDbXref
annotated target: MeSH:D053578
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Opsoclonus-myoclonus syndrome
annotated property: hasDbXref
annotated target: MedDRA:10053854
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Opsoclonus-myoclonus syndrome
annotated property: hasDbXref
annotated target: UMLS:C0393626
manual_assertion: E (Exact mapping: the two concepts are equivalent)

regulator of G protein signaling 9 binding protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75374
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.11
alternative term: FLJ45744
alternative term: PERRS
alternative term: R9AP
alternative term: RGS9
has db xref: ClinVar:RGS9BP
has db xref: Ensembl:ENSG00000186326
has db xref: Genatlas:RGS9BP
has db xref: HGNC:30304
has db xref: OMIM:607814
has db xref: Reactome:Q6ZS82
has db xref: SwissProt:Q6ZS82
symbol: RGS9BP

Rh associated glycoprotein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3203
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_71275
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p12.3
alternative term: Ammonium transporter Rh type A
alternative term: CD241
alternative term: RH50A
alternative term: SLC42A1
has db xref: ClinVar:RHAG
has db xref: Ensembl:ENSG00000112077
has db xref: Genatlas:RHAG
has db xref: HGNC:10006
has db xref: IUPHAR:1198
has db xref: OMIM:180297
has db xref: Reactome:Q02094
has db xref: SwissProt:Q02094
symbol: RHAG

Rh blood group CcEe antigens
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_71275
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.11
alternative term: CD240CE
alternative term: SLC42A4
has db xref: ClinVar:RHCE
has db xref: Ensembl:ENSG00000188672
has db xref: Genatlas:RHCE
has db xref: HGNC:10008
has db xref: OMIM:111700
has db xref: SwissProt:P18577
symbol: RHCE

rhodopsin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 215
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_52427
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q22.1
alternative term: CSNBAD1
alternative term: OPN2
alternative term: opsin 2, rod pigment
has db xref: ClinVar:RHO
has db xref: Ensembl:ENSG00000163914
has db xref: Genatlas:RHO
has db xref: HGNC:10012
has db xref: IUPHAR:2963
has db xref: OMIM:180380
has db xref: Reactome:P08100
has db xref: SwissProt:P08100
symbol: RHO

regulating synaptic membrane exocytosis 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q13
alternative term: KIAA0340
alternative term: RIM
alternative term: RIM1
alternative term: Rab3-interacting molecule
has db xref: ClinVar:RIMS1
has db xref: Ensembl:ENSG00000079841
has db xref: Genatlas:RIMS1
has db xref: HGNC:17282
has db xref: OMIM:606629
has db xref: Reactome:Q86UR5
has db xref: SwissProt:Q86UR5
symbol: RIMS1

retinaldehyde binding protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_227796
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_52427
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_85128
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q26.1
alternative term: CRALBP
has db xref: ClinVar:RLBP1
has db xref: Ensembl:ENSG00000140522
has db xref: Genatlas:RLBP1
has db xref: HGNC:10024
has db xref: IUPHAR:2545
has db xref: OMIM:180090
has db xref: Reactome:P12271
has db xref: SwissProt:P12271
symbol: RLBP1

ribonuclease H2 subunit A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 51
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.13
alternative term: AGS4
alternative term: RNASEHI
alternative term: RNHIA
alternative term: RNHL
has db xref: ClinVar:RNASEH2A
has db xref: Ensembl:ENSG00000104889
has db xref: Genatlas:RNASEH2A
has db xref: HGNC:18518
has db xref: OMIM:606034
has db xref: SwissProt:O75792
symbol: RNASEH2A

ribonuclease H2 subunit B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 51
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_689234
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q14.3
alternative term: FLJ11712
has db xref: ClinVar:RNASEH2B
has db xref: Ensembl:ENSG00000136104
has db xref: Genatlas:RNASEH2B
has db xref: HGNC:25671
has db xref: OMIM:610326
has db xref: SwissProt:Q5TBB1
symbol: RNASEH2B

ribonuclease H2 subunit C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 51
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.1
alternative term: AGS3
alternative term: AYP1
alternative term: Aicardi-Goutieres syndrome 3
has db xref: ClinVar:RNASEH2C
has db xref: Ensembl:ENSG00000172922
has db xref: Genatlas:RNASEH2C
has db xref: HGNC:24116
has db xref: OMIM:610330
has db xref: SwissProt:Q8TDP1
symbol: RNASEH2C

ribonuclease L
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1331
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q25.3
has db xref: ClinVar:RNASEL
has db xref: Ensembl:ENSG00000135828
has db xref: Genatlas:RNASEL
has db xref: HGNC:10050
has db xref: OMIM:180435
has db xref: Reactome:Q05823
has db xref: SwissProt:Q05823
symbol: RNASEL

ring finger protein 139
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_422526
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q24.13
alternative term: HRCA1
alternative term: RCA1
alternative term: TRC8
alternative term: translocation in renal carcinoma, chromosome 8
has db xref: ClinVar:RNF139
has db xref: Ensembl:ENSG00000170881
has db xref: Genatlas:RNF139
has db xref: HGNC:17023
has db xref: OMIM:603046
has db xref: Reactome:Q8WU17
has db xref: SwissProt:Q8WU17
symbol: RNF139

roundabout guidance receptor 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2744
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q24.2
alternative term: FLJ21044
alternative term: HGPS
alternative term: RBIG1
has db xref: ClinVar:ROBO3
has db xref: Ensembl:ENSG00000154134
has db xref: Genatlas:ROBO3
has db xref: HGNC:13433
has db xref: OMIM:608630
has db xref: Reactome:Q96MS0
has db xref: SwissProt:Q96MS0
symbol: ROBO3

retinal outer segment membrane protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q12.3
alternative term: ROM
alternative term: TSPAN23
has db xref: ClinVar:ROM1
has db xref: Ensembl:ENSG00000149489
has db xref: Genatlas:ROM1
has db xref: HGNC:10254
has db xref: OMIM:180721
has db xref: SwissProt:Q03395
symbol: ROM1

receptor tyrosine kinase like orphan receptor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1507
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_572385
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q22.31
has db xref: ClinVar:ROR2
has db xref: Ensembl:ENSG00000169071
has db xref: Genatlas:ROR2
has db xref: HGNC:10257
has db xref: IUPHAR:1846
has db xref: OMIM:602337
has db xref: Reactome:Q01974
has db xref: SwissProt:Q01974
symbol: ROR2

RP1 axonemal microtubule associated
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q11.23-q12.1
alternative term: DCDC4A
alternative term: ORP1
alternative term: doublecortin domain containing 4A
alternative term: oxygen-regulated protein 1
has db xref: ClinVar:RP1
has db xref: Ensembl:ENSG00000104237
has db xref: Genatlas:RP1
has db xref: HGNC:10263
has db xref: OMIM:603937
has db xref: SwissProt:P56715
symbol: RP1

RP2 activator of ARL3 GTPase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.3
alternative term: NM23-H10
alternative term: NME10
alternative term: TBCCD2
has db xref: ClinVar:RP2
has db xref: Ensembl:ENSG00000102218
has db xref: Genatlas:RP2
has db xref: HGNC:10274
has db xref: OMIM:300757
has db xref: Reactome:O75695
has db xref: SwissProt:O75695
symbol: RP2

RP9 pre-mRNA splicing factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p14.3
alternative term: PAP-1
alternative term: Pim-1 kinase associated protein
has db xref: ClinVar:RP9
has db xref: Ensembl:ENSG00000164610
has db xref: Genatlas:RP9
has db xref: HGNC:10288
has db xref: OMIM:607331
has db xref: Reactome:Q8TA86
has db xref: SwissProt:Q8TA86
symbol: RP9

retinoid isomerohydrolase RPE65
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_364055
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 65
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p31.3
alternative term: BCO family, member 3
alternative term: BCO3
alternative term: LCA2
alternative term: all-trans-retinyl-palmitate hydrolase
alternative term: rd12
alternative term: retinol isomerase
has db xref: ClinVar:RPE65
has db xref: Ensembl:ENSG00000116745
has db xref: Genatlas:RPE65
has db xref: HGNC:10294
has db xref: OMIM:180069
has db xref: Reactome:Q16518
has db xref: SwissProt:Q16518
symbol: RPE65

retinitis pigmentosa GTPase regulator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 244
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_247522
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_49382
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.4
alternative term: CORDX1
has db xref: ClinVar:RPGR
has db xref: Ensembl:ENSG00000156313
has db xref: Genatlas:RPGR
has db xref: HGNC:10295
has db xref: OMIM:312610
has db xref: Reactome:Q92834
has db xref: SwissProt:Q92834
symbol: RPGR

RPGR interacting protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 564
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 65
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q11.2
alternative term: CORD13
alternative term: LCA6
alternative term: RGI1
has db xref: ClinVar:RPGRIP1
has db xref: Ensembl:ENSG00000092200
has db xref: Genatlas:RPGRIP1
has db xref: HGNC:13436
has db xref: OMIM:605446
has db xref: Reactome:Q96KN7
has db xref: SwissProt:Q96KN7
symbol: RPGRIP1

ribosomal protein L10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_459070
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_435938
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq28
alternative term: DXS648
alternative term: DXS648E
alternative term: FLJ23544
alternative term: L10
alternative term: NOV
alternative term: QM
alternative term: uL16
has db xref: ClinVar:RPL10
has db xref: Ensembl:ENSG00000147403
has db xref: Genatlas:RPL10
has db xref: HGNC:10298
has db xref: OMIM:312173
has db xref: Reactome:P27635
has db xref: SwissProt:P27635
symbol: RPL10

Ataxia-photosensitivity-short stature syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: Fenton-Wilkinson-Toselano syndrome
definition: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0015248
has db xref: UMLS:C4751230
has_inheritance: Unknown
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1184
notation: ORPHA:1184

Axiom
annotated source: Ataxia-photosensitivity-short stature syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ataxia-photosensitivity-short stature syndrome
annotated property: hasDbXref
annotated target: MONDO:0015248
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-photosensitivity-short stature syndrome
annotated property: hasDbXref
annotated target: UMLS:C4751230
manual_assertion: E (Exact mapping: the two concepts are equivalent)

ribosomal protein S19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 124
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.2
alternative term: DBA
alternative term: Diamond-Blackfan anemia
alternative term: S19
alternative term: eS19
has db xref: ClinVar:RPS19
has db xref: Ensembl:ENSG00000105372
has db xref: Genatlas:RPS19
has db xref: HGNC:10402
has db xref: OMIM:603474
has db xref: Reactome:P39019
has db xref: SwissProt:P39019
symbol: RPS19

ribosomal protein S24
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 124
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q22.3
alternative term: S24
alternative term: eS24
has db xref: ClinVar:RPS24
has db xref: Ensembl:ENSG00000138326
has db xref: Genatlas:RPS24
has db xref: HGNC:10411
has db xref: OMIM:602412
has db xref: Reactome:P62847
has db xref: SwissProt:P62847
symbol: RPS24

ribosomal protein S6 kinase A3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 192
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276630
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 777
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.12
alternative term: HU-3
alternative term: RSK
alternative term: RSK2
has db xref: ClinVar:RPS6KA3
has db xref: Ensembl:ENSG00000177189
has db xref: Genatlas:RPS6KA3
has db xref: HGNC:10432
has db xref: IUPHAR:1528
has db xref: OMIM:300075
has db xref: Reactome:P51812
has db xref: SwissProt:P51812
symbol: RPS6KA3

retinoschisin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 792
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.13
alternative term: XLRS1
has db xref: ClinVar:RS1
has db xref: Ensembl:ENSG00000102104
has db xref: Genatlas:RS1
has db xref: HGNC:10457
has db xref: OMIM:300839
has db xref: SwissProt:O15537
symbol: RS1

R-spondin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_85112
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p34.3
alternative term: FLJ40906
alternative term: RSPONDIN
has db xref: ClinVar:RSPO1
has db xref: Ensembl:ENSG00000169218
has db xref: Genatlas:RSPO1
has db xref: HGNC:21679
has db xref: OMIM:609595
has db xref: Reactome:Q2MKA7
has db xref: SwissProt:Q2MKA7
symbol: RSPO1

R-spondin 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_94150
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20p13
alternative term: dJ824F16.3
has db xref: ClinVar:RSPO4
has db xref: Ensembl:ENSG00000101282
has db xref: Genatlas:RSPO4
has db xref: HGNC:16175
has db xref: OMIM:610573
has db xref: Reactome:Q2I0M5
has db xref: SwissProt:Q2I0M5
symbol: RSPO4

RUNX family transcription factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_71290
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_98850
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet 521
subclass of: Restriction
  on property: has_chromosomal location
  has value: 21q22.12
alternative term: AMLCR1
alternative term: PEBP2A2
alternative term: aml1 oncogene
has db xref: ClinVar:RUNX1
has db xref: Ensembl:ENSG00000159216
has db xref: Genatlas:RUNX1
has db xref: HGNC:10471
has db xref: OMIM:151385
has db xref: Reactome:Q01196
has db xref: SwissProt:Q01196
symbol: RUNX1

RUNX family transcription factor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1452
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 2504
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p21.1
alternative term: AML3
alternative term: PEBP2A1
alternative term: PEBP2aA1
has db xref: ClinVar:RUNX2
has db xref: Ensembl:ENSG00000124813
has db xref: Genatlas:RUNX2
has db xref: HGNC:10472
has db xref: OMIM:600211
has db xref: Reactome:Q13950
has db xref: SwissProt:Q13950
symbol: RUNX2

ryanodine receptor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_169186
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_178145
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_324581
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33108
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 423
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_424107
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 597
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_700188
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98905
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99741
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_466650
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_169189
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.2
alternative term: PPP1R137
alternative term: RYR
alternative term: protein phosphatase 1, regulatory subunit 137
has db xref: ClinVar:RYR1
has db xref: Ensembl:ENSG00000196218
has db xref: Genatlas:RYR1
has db xref: HGNC:10483
has db xref: IUPHAR:747
has db xref: OMIM:180901
has db xref: Reactome:P21817
has db xref: SwissProt:P21817
symbol: RYR1

ryanodine receptor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293888
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293899
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293910
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3286
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q43
alternative term: ARVC2
alternative term: VTSIP
has db xref: ClinVar:RYR2
has db xref: Ensembl:ENSG00000198626
has db xref: Genatlas:RYR2
has db xref: HGNC:10484
has db xref: IUPHAR:748
has db xref: OMIM:180902
has db xref: Reactome:Q92736
has db xref: SwissProt:Q92736
symbol: RYR2

sacsin molecular chaperone
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 98
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q12.12
alternative term: ARSACS
alternative term: DKFZp686B15167
alternative term: DNAJC29
alternative term: KIAA0730
alternative term: PPP1R138
alternative term: SPAX6
alternative term: protein phosphatase 1, regulatory subunit 138
has db xref: ClinVar:SACS
has db xref: Ensembl:ENSG00000151835
has db xref: Genatlas:SACS
has db xref: HGNC:10519
has db xref: OMIM:604490
has db xref: SwissProt:Q9NZJ4
symbol: SACS

S-antigen visual arrestin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_75382
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q37.1
alternative term: ARRESTIN
alternative term: RP47
alternative term: arrestin 1
alternative term: rod arrestin
has db xref: ClinVar:SAG
has db xref: Ensembl:ENSG00000130561
has db xref: Genatlas:SAG
has db xref: HGNC:10521
has db xref: OMIM:181031
has db xref: Reactome:P10523
has db xref: SwissProt:P10523
symbol: SAG

spalt like transcription factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 857
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q12.1
alternative term: Hsal1
alternative term: ZNF794
has db xref: ClinVar:SALL1
has db xref: Ensembl:ENSG00000103449
has db xref: Genatlas:SALL1
has db xref: HGNC:10524
has db xref: OMIM:602218
has db xref: Reactome:Q9NSC2
has db xref: SwissProt:Q9NSC2
symbol: SALL1

spalt like transcription factor 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2307
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 233
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_261647
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 959
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_261638
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q13.2
alternative term: ZNF797
alternative term: dJ1112F19.1
has db xref: ClinVar:SALL4
has db xref: Ensembl:ENSG00000101115
has db xref: Genatlas:SALL4
has db xref: HGNC:15924
has db xref: OMIM:607343
has db xref: Reactome:Q9UJQ4
has db xref: SwissProt:Q9UJQ4
symbol: SALL4

sterile alpha motif domain containing 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_494433
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_306658
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q21.2
alternative term: FLJ20073
alternative term: KIAA2004
has db xref: ClinVar:SAMD9
has db xref: Ensembl:ENSG00000205413
has db xref: Genatlas:SAMD9
has db xref: HGNC:1348
has db xref: OMIM:610456
has db xref: SwissProt:Q5K651
symbol: SAMD9

secretion associated Ras related GTPase 1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 71
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q31.1
has db xref: ClinVar:SAR1B
has db xref: Ensembl:ENSG00000152700
has db xref: Genatlas:SAR1B
has db xref: HGNC:10535
has db xref: OMIM:607690
has db xref: Reactome:Q9Y6B6
has db xref: SwissProt:Q9Y6B6
symbol: SAR1B

sarcosine dehydrogenase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3129
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.2
alternative term: SDH
has db xref: ClinVar:SARDH
has db xref: Ensembl:ENSG00000123453
has db xref: Genatlas:SARDH
has db xref: HGNC:10536
has db xref: OMIM:604455
has db xref: Reactome:Q9UL12
has db xref: SwissProt:Q9UL12
symbol: SARDH

SBDS ribosome maturation factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_622934
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 811
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 88
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q11.21
alternative term: CGI-97
alternative term: FLJ10917
alternative term: SDO1
alternative term: SDS
alternative term: SWDS
has db xref: ClinVar:SBDS
has db xref: Ensembl:ENSG00000126524
has db xref: Genatlas:SBDS
has db xref: HGNC:19440
has db xref: OMIM:607444
has db xref: SwissProt:Q9Y3A5
symbol: SBDS

SET binding factor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99956
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.4
alternative term: DENND7B
alternative term: KIAA1766
alternative term: MTMR13
alternative term: myotubularin related 13
has db xref: ClinVar:SBF2
has db xref: Ensembl:ENSG00000133812
has db xref: Genatlas:SBF2
has db xref: HGNC:2135
has db xref: OMIM:607697
has db xref: Reactome:Q86WG5
has db xref: SwissProt:Q86WG5
symbol: SBF2

sterol-C5-desaturase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_46059
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.3-q24.1
alternative term: delta(7)-sterol 5(6)-desaturase
alternative term: lathosterol oxidase
has db xref: ClinVar:SC5DL
has db xref: Ensembl:ENSG00000109929
has db xref: Genatlas:SC5DL
has db xref: HGNC:10547
has db xref: IUPHAR:3296
has db xref: OMIM:602286
has db xref: Reactome:O75845
has db xref: SwissProt:O75845
symbol: SC5D

sodium voltage-gated channel alpha subunit 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1942
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2382
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293181
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33069
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_36387
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_442835
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 569
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q24.3
alternative term: GEFSP2
alternative term: HBSCI
alternative term: NAC1
alternative term: Nav1.1
alternative term: SMEI
has db xref: ClinVar:SCN1A
has db xref: Ensembl:ENSG00000144285
has db xref: Genatlas:SCN1A
has db xref: HGNC:10585
has db xref: IUPHAR:578
has db xref: OMIM:182389
has db xref: Reactome:P35498
has db xref: SwissProt:P35498
symbol: SCN1A

sodium voltage-gated channel beta subunit 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1934
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_36387
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 130
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 334
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_33069
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 871
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.11
has db xref: ClinVar:SCN1B
has db xref: Ensembl:ENSG00000105711
has db xref: Genatlas:SCN1B
has db xref: HGNC:10586
has db xref: OMIM:600235
has db xref: Reactome:Q07699
has db xref: SwissProt:Q07699
symbol: SCN1B

Spinocerebellar ataxia-dysmorphism syndrome
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_183518
definition: A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.
definition citation: Orphanet
has db xref: ICD-10:G11.8
has db xref: MONDO:0010062
has db xref: OMIM:271270
has db xref: UMLS:C0796166
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 3.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1185
notation: ORPHA:1185

Axiom
annotated source: Spinocerebellar ataxia-dysmorphism syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Spinocerebellar ataxia-dysmorphism syndrome
annotated property: hasDbXref
annotated target: MONDO:0010062
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia-dysmorphism syndrome
annotated property: hasDbXref
annotated target: OMIM:271270
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Spinocerebellar ataxia-dysmorphism syndrome
annotated property: hasDbXref
annotated target: UMLS:C0796166
manual_assertion: E (Exact mapping: the two concepts are equivalent)

sodium voltage-gated channel alpha subunit 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_140927
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2131
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293181
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 306
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33069
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_697160
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_36387
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 1934
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q24.3
alternative term: HBSCI
alternative term: HBSCII
alternative term: Nav1.2
has db xref: ClinVar:SCN2A
has db xref: Ensembl:ENSG00000136531
has db xref: Genatlas:SCN2A
has db xref: HGNC:10588
has db xref: IUPHAR:579
has db xref: OMIM:182390
has db xref: Reactome:Q99250
has db xref: SwissProt:Q99250
symbol: SCN2A

sodium voltage-gated channel alpha subunit 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 681
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 684
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99734
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99735
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99736
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 682
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q23.3
alternative term: HYPP
alternative term: Nav1.4
alternative term: SkM1
has db xref: ClinVar:SCN4A
has db xref: Ensembl:ENSG00000007314
has db xref: Genatlas:SCN4A
has db xref: HGNC:10591
has db xref: IUPHAR:581
has db xref: OMIM:603967
has db xref: Reactome:P35499
has db xref: SwissProt:P35499
symbol: SCN4A

sodium voltage-gated channel alpha subunit 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 130
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1344
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_166282
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_228140
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 871
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Romano-Ward syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 334
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p22.2
alternative term: CDCD2
alternative term: CMPD2
alternative term: HB1
alternative term: HB2
alternative term: HBBD
alternative term: HH1
alternative term: ICCD
alternative term: IVF
alternative term: LQT3
alternative term: Nav1.5
alternative term: PFHB1
alternative term: SSS1
alternative term: long QT syndrome 3
has db xref: ClinVar:SCN5A
has db xref: Ensembl:ENSG00000183873
has db xref: Genatlas:SCN5A
has db xref: HGNC:10593
has db xref: IUPHAR:582
has db xref: OMIM:600163
has db xref: Reactome:Q14524
has db xref: SwissProt:Q14524
symbol: SCN5A

sodium voltage-gated channel alpha subunit 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_33069
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_36387
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_88642
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 970
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_306577
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_46348
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_90026
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q24.3
alternative term: ETHA
alternative term: NE-NA
alternative term: NENA
alternative term: Nav1.7
alternative term: PN1
has db xref: ClinVar:SCN9A
has db xref: Ensembl:ENSG00000169432
has db xref: Genatlas:SCN9A
has db xref: HGNC:10597
has db xref: IUPHAR:584
has db xref: OMIM:603415
has db xref: Reactome:Q15858
has db xref: SwissProt:Q15858
symbol: SCN9A

sodium channel epithelial 1 subunit alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 130
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_60033
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_171876
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 526
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12p13.31
alternative term: ENaCalpha
alternative term: amiloride-sensitive sodium channel subunit alpha
has db xref: ClinVar:SCNN1A
has db xref: Ensembl:ENSG00000111319
has db xref: Genatlas:SCNN1A
has db xref: HGNC:10599
has db xref: IUPHAR:738
has db xref: OMIM:600228
has db xref: Reactome:P37088
has db xref: SwissProt:P37088
symbol: SCNN1A

sodium channel epithelial 1 subunit beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_60033
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_171876
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 526
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p12.2
alternative term: ENaCbeta
alternative term: Liddle syndrome
alternative term: amiloride-sensitive sodium channel subunit beta
has db xref: ClinVar:SCNN1B
has db xref: Ensembl:ENSG00000168447
has db xref: Genatlas:SCNN1B
has db xref: HGNC:10600
has db xref: IUPHAR:739
has db xref: OMIM:600760
has db xref: Reactome:P51168
has db xref: SwissProt:P51168
symbol: SCNN1B

sodium channel epithelial 1 subunit gamma
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_60033
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_171876
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 526
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p12.2
alternative term: ENaCgamma
alternative term: SCNEG
alternative term: amiloride-sensitive sodium channel subunit gamma
has db xref: ClinVar:SCNN1G
has db xref: Ensembl:ENSG00000166828
has db xref: Genatlas:SCNN1G
has db xref: HGNC:10602
has db xref: IUPHAR:741
has db xref: OMIM:600761
has db xref: Reactome:P51170
has db xref: SwissProt:P51170
symbol: SCNN1G

synthesis of cytochrome C oxidase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1561
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.1
has db xref: ClinVar:SCO1
has db xref: Ensembl:ENSG00000133028
has db xref: Genatlas:SCO1
has db xref: HGNC:10603
has db xref: OMIM:603644
has db xref: Reactome:O75880
has db xref: SwissProt:O75880
symbol: SCO1

synthesis of cytochrome C oxidase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1561
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_521411
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98619
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.33
alternative term: SCO1L
has db xref: ClinVar:SCO2
has db xref: Ensembl:ENSG00000284194
has db xref: Genatlas:SCO2
has db xref: HGNC:10604
has db xref: OMIM:604272
has db xref: Reactome:O43819
has db xref: SwissProt:O43819
symbol: SCO2

succinate dehydrogenase complex flavoprotein subunit A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_29072
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3208
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97286
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_139411
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_44890
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5p15.33
alternative term: FP
alternative term: SDHF
alternative term: flavoprotein subunit of complex II
alternative term: succinate dehydrogenase [ubiquinone] flavoprotein subunit
has db xref: ClinVar:SDHA
has db xref: Ensembl:ENSG00000073578
has db xref: Genatlas:SDHA
has db xref: HGNC:10680
has db xref: OMIM:600857
has db xref: Reactome:P31040
has db xref: SwissProt:P31040
symbol: SDHA

succinate dehydrogenase complex iron sulfur subunit B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 201
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_29072
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3208
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_139411
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_276621
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_44890
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_97286
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.13
alternative term: iron-sulfur subunit of complex II
alternative term: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
has db xref: ClinVar:SDHB
has db xref: Ensembl:ENSG00000117118
has db xref: Genatlas:SDHB
has db xref: HGNC:10681
has db xref: OMIM:185470
has db xref: Reactome:P21912
has db xref: SwissProt:P21912
symbol: SDHB

succinate dehydrogenase complex subunit C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 201
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_29072
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_139411
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_44890
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_97286
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q23.3
alternative term: CYB560
alternative term: cybL
alternative term: large subunit of cytochrome b
alternative term: succinate dehydrgenase cytochrome b
alternative term: succinate dehydrogenase cytochrome b560 subunit
has db xref: ClinVar:SDHC
has db xref: Ensembl:ENSG00000143252
has db xref: Genatlas:SDHC
has db xref: HGNC:10682
has db xref: OMIM:602413
has db xref: Reactome:Q99643
has db xref: SwissProt:Q99643
symbol: SDHC

succinate dehydrogenase complex subunit D
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 201
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_29072
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_276621
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Carcinoid syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 3208
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_97286
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.1
alternative term: cybS
alternative term: small subunit of cytochrome b
has db xref: ClinVar:SDHD
has db xref: Ensembl:ENSG00000204370
has db xref: Genatlas:SDHD
has db xref: HGNC:10683
has db xref: OMIM:602690
has db xref: Reactome:O14521
has db xref: SwissProt:O14521
symbol: SDHD

SEC23 homolog A, COPII component
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_50814
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q21.1
has db xref: ClinVar:SEC23A
has db xref: Ensembl:ENSG00000100934
has db xref: Genatlas:SEC23A
has db xref: HGNC:10701
has db xref: OMIM:610511
has db xref: Reactome:Q15436
has db xref: SwissProt:Q15436
symbol: SEC23A

SEC63 protein translocation regulator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2924
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q21
alternative term: DNAJC23
alternative term: ERdj2
alternative term: PRO2507
alternative term: SEC63L
has db xref: ClinVar:SEC63
has db xref: Ensembl:ENSG00000025796
has db xref: Genatlas:SEC63
has db xref: HGNC:21082
has db xref: OMIM:608648
has db xref: Reactome:Q9UGP8
has db xref: SwissProt:Q9UGP8
symbol: SEC63

semaphorin 3E
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 138
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q21.11
alternative term: KIAA0331
alternative term: M-SemaK
alternative term: M-sema H
alternative term: coll-5
has db xref: ClinVar:SEMA3E
has db xref: Ensembl:ENSG00000170381
has db xref: Genatlas:SEMA3E
has db xref: HGNC:10727
has db xref: OMIM:608166
has db xref: Reactome:O15041
has db xref: SwissProt:O15041
symbol: SEMA3E

selenoprotein N
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2020
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_324604
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_84132
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97244
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.11
alternative term: RSS
alternative term: SELN
has db xref: ClinVar:SEPN1
has db xref: Ensembl:ENSG00000162430
has db xref: Genatlas:SEPN1
has db xref: HGNC:15999
has db xref: OMIM:606210
has db xref: SwissProt:Q9NZV5
symbol: SELENON

Infantile-onset spinocerebellar ataxia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_254871
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98098
alternative term: IOSCA
alternative term: Ohaha syndrome
alternative term: Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
definition: Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: ICD-11:LD90.Y
has db xref: MONDO:0010060
has db xref: MeSH:C535523
has db xref: OMIM:271245
has db xref: UMLS:C1849096
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 29.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1186
notation: ORPHA:1186

Axiom
annotated source: Infantile-onset spinocerebellar ataxia
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Infantile-onset spinocerebellar ataxia
annotated property: hasDbXref
annotated target: ICD-11:LD90.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Infantile-onset spinocerebellar ataxia
annotated property: hasDbXref
annotated target: MONDO:0010060
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Infantile-onset spinocerebellar ataxia
annotated property: hasDbXref
annotated target: MeSH:C535523
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Infantile-onset spinocerebellar ataxia
annotated property: hasDbXref
annotated target: OMIM:271245
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Infantile-onset spinocerebellar ataxia
annotated property: hasDbXref
annotated target: UMLS:C1849096
manual_assertion: E (Exact mapping: the two concepts are equivalent)

serpin family A member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_178396
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 60
subclass of: Restriction
  on property: modifying germline mutation in
  some values from: Orphanet 586
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q32.13
alternative term: A1A
alternative term: A1AT
alternative term: AAT
alternative term: PI1
alternative term: alpha-1 antitrypsin
alternative term: alpha-1 proteinase inhibitor
alternative term: alpha-1-antitrypsin
alternative term: alpha1AT
alternative term: anti-elastase
alternative term: protease inhibitor 1
alternative term: protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
has db xref: ClinVar:SERPINA1
has db xref: Ensembl:ENSG00000197249
has db xref: Genatlas:SERPINA1
has db xref: HGNC:8941
has db xref: OMIM:107400
has db xref: Reactome:P01009
has db xref: SwissProt:P01009
symbol: SERPINA1

serpin family C member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 82
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q25.1
alternative term: ATIII
alternative term: MGC22579
alternative term: antithrombin (aa 375-432)
alternative term: antithrombin III
alternative term: coding sequence signal peptide antithrombin part 1
alternative term: signal peptide antithrombin part 1
has db xref: ClinVar:SERPINC1
has db xref: Ensembl:ENSG00000117601
has db xref: Genatlas:SERPINC1
has db xref: HGNC:775
has db xref: IUPHAR:2632
has db xref: OMIM:107300
has db xref: Reactome:P01008
has db xref: SwissProt:P01008
symbol: SERPINC1

serpin family E member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 465
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_673556
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q22.1
alternative term: PAI
alternative term: plasminogen activator inhibitor, type I
has db xref: ClinVar:SERPINE1
has db xref: Ensembl:ENSG00000106366
has db xref: Genatlas:SERPINE1
has db xref: HGNC:8583
has db xref: OMIM:173360
has db xref: Reactome:P05121
has db xref: SwissProt:P05121
symbol: SERPINE1

serpin family G member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Hereditary angioedema type 1
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Hereditary angioedema type 2
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q12.1
alternative term: C1-INH
alternative term: C1-inhibitor
alternative term: C1IN
alternative term: C1INH
alternative term: HAE1
alternative term: HAE2
alternative term: angioedema, hereditary
alternative term: plasma protease C1 inhibitor
has db xref: ClinVar:SERPING1
has db xref: Ensembl:ENSG00000149131
has db xref: Genatlas:SERPING1
has db xref: HGNC:1228
has db xref: OMIM:606860
has db xref: Reactome:P05155
has db xref: SwissProt:P05155
symbol: SERPING1

serpin family I member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_530303
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q26.1
alternative term: neuroserpin
has db xref: ClinVar:SERPINI1
has db xref: Ensembl:ENSG00000163536
has db xref: Genatlas:SERPINI1
has db xref: HGNC:8943
has db xref: OMIM:602445
has db xref: SwissProt:Q99574
symbol: SERPINI1

senataxin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_357043
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_64753
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.13
alternative term: AOA2
alternative term: KIAA0625
alternative term: STEX
alternative term: Sen1
has db xref: ClinVar:SETX
has db xref: Ensembl:ENSG00000107290
has db xref: Genatlas:SETX
has db xref: HGNC:445
has db xref: OMIM:608465
has db xref: Reactome:Q7Z333
has db xref: SwissProt:Q7Z333
symbol: SETX

surfactant protein A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 2032
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q22.3
alternative term: COLEC4
alternative term: SP-A
alternative term: SP-A1
alternative term: surfactant, pulmonary-associated protein A1A
has db xref: ClinVar:SFTPA1
has db xref: Ensembl:ENSG00000122852
has db xref: Genatlas:SFTPA1
has db xref: HGNC:10798
has db xref: OMIM:178630
has db xref: Reactome:Q8IWL2
has db xref: SwissProt:Q8IWL2
symbol: SFTPA1

surfactant protein B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_685082
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_217563
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p11.2
alternative term: SP-B
has db xref: ClinVar:SFTPB
has db xref: Ensembl:ENSG00000168878
has db xref: Genatlas:SFTPB
has db xref: HGNC:10801
has db xref: OMIM:178640
has db xref: Reactome:P07988
has db xref: SwissProt:P07988
symbol: SFTPB

surfactant protein C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_217566
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_440392
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 2032
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_685082
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8p21.3
alternative term: BRICD6
alternative term: BRICHOS domain containing 6
alternative term: PSP-C
alternative term: SMDP2
alternative term: SP-C
has db xref: ClinVar:SFTPC
has db xref: Ensembl:ENSG00000168484
has db xref: Genatlas:SFTPC
has db xref: HGNC:10802
has db xref: OMIM:178620
has db xref: Reactome:P11686
has db xref: SwissProt:P11686
symbol: SFTPC

sarcoglycan alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 62
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q21.33
alternative term: 50kD DAG
alternative term: A2
alternative term: DMDA2
alternative term: LGMD2D
alternative term: SCARMD1
alternative term: adhalin
alternative term: limb girdle muscular dystrophy 2D
has db xref: ClinVar:SGCA
has db xref: Ensembl:ENSG00000108823
has db xref: Genatlas:SGCA
has db xref: HGNC:10805
has db xref: OMIM:600119
has db xref: SwissProt:Q16586
symbol: SGCA

sarcoglycan beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q12
alternative term: A3b
alternative term: SGC
has db xref: ClinVar:SGCB
has db xref: Ensembl:ENSG00000163069
has db xref: Genatlas:SGCB
has db xref: HGNC:10806
has db xref: OMIM:600900
has db xref: Reactome:Q16585
has db xref: SwissProt:Q16585
symbol: SGCB

sarcoglycan delta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 219
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q33.2-q33.3
alternative term: CMD1L
alternative term: DAGD
alternative term: LGMD2F
has db xref: ClinVar:SGCD
has db xref: Ensembl:ENSG00000170624
has db xref: Genatlas:SGCD
has db xref: HGNC:10807
has db xref: OMIM:601411
has db xref: SwissProt:Q92629
symbol: SGCD

sarcoglycan epsilon
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_36899
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q21.3
has db xref: ClinVar:SGCE
has db xref: Ensembl:ENSG00000127990
has db xref: Genatlas:SGCE
has db xref: HGNC:10808
has db xref: OMIM:604149
has db xref: SwissProt:O43556
symbol: SGCE

sarcoglycan gamma
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 353
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q12.12
alternative term: 35kD dystrophin-associated glycoprotein
alternative term: A4
alternative term: DAGA4
alternative term: DMDA
alternative term: MGC130048
alternative term: Maghrebian myopathy (autosomal recessive)
alternative term: SCARMD2
alternative term: SCG3
alternative term: TYPE
alternative term: gamma sarcoglycan
alternative term: limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)
has db xref: ClinVar:SGCG
has db xref: Ensembl:ENSG00000102683
has db xref: Genatlas:SGCG
has db xref: HGNC:10809
has db xref: OMIM:608896
has db xref: Reactome:Q13326
has db xref: SwissProt:Q13326
symbol: SGCG

N-sulfoglucosamine sulfohydrolase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79269
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q25.3
alternative term: HSS
alternative term: MPS3A
alternative term: SFMD
alternative term: mucopolysaccharidosis type IIIA
alternative term: sulfamidase
has db xref: ClinVar:SGSH
has db xref: Ensembl:ENSG00000181523
has db xref: Genatlas:SGSH
has db xref: HGNC:10818
has db xref: OMIM:605270
has db xref: Reactome:P51688
has db xref: SwissProt:P51688
symbol: SGSH

SH2 domain containing 1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_538931
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq25
alternative term: DSHP
alternative term: Duncan's disease
alternative term: EBVS
alternative term: MTCP1
alternative term: SAP
alternative term: XLP
alternative term: XLPD
has db xref: ClinVar:SH2D1A
has db xref: Ensembl:ENSG00000183918
has db xref: Genatlas:SH2D1A
has db xref: HGNC:10820
has db xref: OMIM:300490
has db xref: Reactome:O60880
has db xref: SwissProt:O60880
symbol: SH2D1A

SH3 domain binding protein 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 184
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4p16.3
alternative term: CRBM
alternative term: RES4-23
has db xref: ClinVar:SH3BP2
has db xref: Ensembl:ENSG00000087266
has db xref: Genatlas:SH3BP2
has db xref: HGNC:10825
has db xref: OMIM:602104
has db xref: Reactome:P78314
has db xref: SwissProt:P78314
symbol: SH3BP2

SH3 domain and tetratricopeptide repeats 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99949
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32
alternative term: CMT4C
alternative term: KIAA1985
has db xref: ClinVar:SH3TC2
has db xref: Ensembl:ENSG00000169247
has db xref: Genatlas:SH3TC2
has db xref: HGNC:29427
has db xref: OMIM:608206
has db xref: SwissProt:Q8TF17
symbol: SH3TC2

SH3 and multiple ankyrin repeat domains 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_662169
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_662172
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.33
alternative term: KIAA1650
alternative term: PSAP2
alternative term: SPANK-2
alternative term: proline rich synapse associated protein 2
alternative term: prosap2
alternative term: shank postsynaptic density protein
alternative term: shank3 postsynaptic density protein
has db xref: ClinVar:SHANK3
has db xref: Ensembl:ENSG00000251322
has db xref: Genatlas:SHANK3
has db xref: HGNC:14294
has db xref: OMIM:606230
has db xref: Reactome:Q9BYB0
has db xref: SwissProt:Q9BYB0
symbol: SHANK3

Lethal ataxia with deafness and optic atrophy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_247765
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_79191
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
alternative term: Arts syndrome
alternative term: Lethal ataxia with hearing loss and optic atrophy
definition: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
definition citation: Orphanet
has db xref: ICD-10:E79.8
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0010533
has db xref: MeSH:C535388
has db xref: OMIM:301835
has db xref: UMLS:C0796028
has_inheritance: X-linked recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 4.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1187
notation: ORPHA:1187

Axiom
annotated source: Lethal ataxia with deafness and optic atrophy
annotated property: hasDbXref
annotated target: ICD-10:E79.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Lethal ataxia with deafness and optic atrophy
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Lethal ataxia with deafness and optic atrophy
annotated property: hasDbXref
annotated target: MONDO:0010533
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lethal ataxia with deafness and optic atrophy
annotated property: hasDbXref
annotated target: MeSH:C535388
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lethal ataxia with deafness and optic atrophy
annotated property: hasDbXref
annotated target: OMIM:301835
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Lethal ataxia with deafness and optic atrophy
annotated property: hasDbXref
annotated target: UMLS:C0796028
manual_assertion: E (Exact mapping: the two concepts are equivalent)

sonic hedgehog signaling molecule
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_220386
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280195
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280200
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_476119
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93321
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93336
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93405
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93924
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93925
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93926
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 988
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98938
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_485275
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q36.3
alternative term: HHG1
alternative term: MCOPCB5
alternative term: SHH signaling molecule
alternative term: SMMCI
alternative term: TPT
alternative term: TPTPS
has db xref: ClinVar:SHH
has db xref: Ensembl:ENSG00000164690
has db xref: Genatlas:SHH
has db xref: HGNC:10848
has db xref: OMIM:600725
has db xref: Reactome:Q15465
has db xref: SwissProt:Q15465
symbol: SHH

SHOX homeobox
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_314795
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 240
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2632
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.33 and Yp11.32
alternative term: GCFX
alternative term: PHOG
alternative term: SHOX1
alternative term: SHOXY
alternative term: SS
alternative term: pseudoautosomal homeobox-containing osteogenic gene
has db xref: ClinVar:SHOX
has db xref: Ensembl:ENSG00000185960
has db xref: Genatlas:SHOX
has db xref: HGNC:10853
has db xref: OMIM:312865
has db xref: OMIM:400020
has db xref: SwissProt:O15266
symbol: SHOX

shroom family member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_85288
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.22
alternative term: KIAA1202
alternative term: Protein Shroom4
alternative term: SHAP
alternative term: Second homolog of apical protein
alternative term: Shrm4
has db xref: ClinVar:SHROOM4
has db xref: Ensembl:ENSG00000158352
has db xref: Genatlas:SHROOM4
has db xref: HGNC:29215
has db xref: OMIM:300579
has db xref: SwissProt:Q9ULL8
symbol: SHROOM4

sucrase-isomaltase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_35122
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q26.1
alternative term: Alpha-methylglucosidase
alternative term: Oligo-1,6-glucosidase
alternative term: Oligosaccharide alpha-1,6-glucosidase
alternative term: alpha-glucosidase
has db xref: ClinVar:SI
has db xref: Ensembl:ENSG00000090402
has db xref: Genatlas:SI
has db xref: HGNC:10856
has db xref: OMIM:609845
has db xref: Reactome:P14410
has db xref: SwissProt:P14410
symbol: SI

SIL1 nucleotide exchange factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 559
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q31.2
alternative term: BAP
alternative term: ULG5
has db xref: ClinVar:SIL1
has db xref: Ensembl:ENSG00000120725
has db xref: Genatlas:SIL1
has db xref: HGNC:24624
has db xref: OMIM:608005
has db xref: SwissProt:Q9H173
symbol: SIL1

SIX homeobox 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: BOR syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_52429
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90635
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q23.1
has db xref: ClinVar:SIX1
has db xref: Ensembl:ENSG00000126778
has db xref: Genatlas:SIX1
has db xref: HGNC:10887
has db xref: OMIM:601205
has db xref: Reactome:Q15475
has db xref: SwissProt:Q15475
symbol: SIX1

SIX homeobox 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_220386
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280195
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_280200
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93924
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93925
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93926
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_485275
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p21
has db xref: ClinVar:SIX3
has db xref: Ensembl:ENSG00000138083
has db xref: Genatlas:SIX3
has db xref: HGNC:10889
has db xref: OMIM:603714
has db xref: Reactome:O95343
has db xref: SwissProt:O95343
symbol: SIX3

SIX homeobox 6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_435930
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_35612
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_98938
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q23.1
alternative term: Six9
has db xref: ClinVar:SIX6
has db xref: Ensembl:ENSG00000184302
has db xref: Genatlas:SIX6
has db xref: HGNC:10892
has db xref: OMIM:606326
has db xref: SwissProt:O95475
symbol: SIX6

solute carrier family 11 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_83642
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q13.12
alternative term: DCT1
alternative term: DMT-1
alternative term: DMT1
alternative term: FLJ37416
alternative term: Natural resistance-associated macrophage protein 2
alternative term: divalent cation transporter 1
alternative term: divalent metal transporter 1
has db xref: ClinVar:SLC11A2
has db xref: Ensembl:ENSG00000110911
has db xref: Genatlas:SLC11A2
has db xref: HGNC:10908
has db xref: IUPHAR:967
has db xref: OMIM:600523
has db xref: Reactome:P49281
has db xref: SwissProt:P49281
symbol: SLC11A2

solute carrier family 12 member 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 358
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q13
alternative term: NCC
alternative term: NCCT
alternative term: Na-Cl symporter
alternative term: TSC
alternative term: Thiazide-sensitive sodium-chloride cotransporter
alternative term: sodium-chloride co-transporter
has db xref: ClinVar:SLC12A3
has db xref: Ensembl:ENSG00000070915
has db xref: Genatlas:SLC12A3
has db xref: HGNC:10912
has db xref: IUPHAR:970
has db xref: OMIM:600968
has db xref: Reactome:P55017
has db xref: SwissProt:P55017
symbol: SLC12A3

solute carrier family 12 member 6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1496
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q14
alternative term: K-Cl cotransporter 3
alternative term: KCC3A
alternative term: KCC3B
has db xref: ClinVar:SLC12A6
has db xref: Ensembl:ENSG00000140199
has db xref: Genatlas:SLC12A6
has db xref: HGNC:10914
has db xref: IUPHAR:973
has db xref: OMIM:604878
has db xref: Reactome:Q9UHW9
has db xref: SwissProt:Q9UHW9
symbol: SLC12A6

solute carrier family 16 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 59
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq13.2
alternative term: DXS128E
alternative term: MCT7
alternative term: MCT8
alternative term: X-linked PEST-containing transporter
alternative term: XPCT
alternative term: monocarboxylate transporter 8
has db xref: ClinVar:SLC16A2
has db xref: Ensembl:ENSG00000147100
has db xref: Genatlas:SLC16A2
has db xref: HGNC:10923
has db xref: IUPHAR:992
has db xref: OMIM:300095
has db xref: Reactome:P36021
has db xref: SwissProt:P36021
symbol: SLC16A2

solute carrier family 17 member 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309324
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309331
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309334
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q13
alternative term: AST
alternative term: ISSD
alternative term: NSD
alternative term: SD
alternative term: SIALIN
alternative term: SLD
alternative term: Salla disease
alternative term: acidic sugar transporter
alternative term: infantile sialic acid storage disorder
has db xref: ClinVar:SLC17A5
has db xref: Ensembl:ENSG00000119899
has db xref: Genatlas:SLC17A5
has db xref: HGNC:10933
has db xref: IUPHAR:1006
has db xref: OMIM:604322
has db xref: Reactome:Q9NRA2
has db xref: SwissProt:Q9NRA2
symbol: SLC17A5

solute carrier family 19 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_49827
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q24.2
alternative term: THTR1
alternative term: ThT1
alternative term: Thiamine transporter 1
alternative term: thiamine-responsive megaloblastic anaemia
has db xref: ClinVar:SLC19A2
has db xref: Ensembl:ENSG00000117479
has db xref: Genatlas:SLC19A2
has db xref: HGNC:10938
has db xref: IUPHAR:1015
has db xref: OMIM:603941
has db xref: Reactome:O60779
has db xref: SwissProt:O60779
symbol: SLC19A2

solute carrier family 19 member 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_199348
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_263410
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_65284
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q36.3
alternative term: THTR2
alternative term: hTHTR2
alternative term: thTr-2
alternative term: thiamine transporter 2
has db xref: ClinVar:SLC19A3
has db xref: Ensembl:ENSG00000135917
has db xref: Genatlas:SLC19A3
has db xref: HGNC:16266
has db xref: IUPHAR:1016
has db xref: OMIM:606152
has db xref: Reactome:Q9BZV2
has db xref: SwissProt:Q9BZV2
symbol: SLC19A3

solute carrier family 22 member 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 158
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q31.1
alternative term: OCTN2
alternative term: SCD
alternative term: organic cation/carnitine transporter 2
alternative term: systemic carnitine deficiency
has db xref: ClinVar:SLC22A5
has db xref: Ensembl:ENSG00000197375
has db xref: Genatlas:SLC22A5
has db xref: HGNC:10969
has db xref: IUPHAR:1023
has db xref: OMIM:603377
has db xref: Reactome:O76082
has db xref: SwissProt:O76082
symbol: SLC22A5

solute carrier family 25 member 13
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_247585
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_247598
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q21.3
alternative term: ARALAR2
alternative term: CITRIN
alternative term: Calcium-binding mitochondrial carrier protein Aralar2
alternative term: citrullinemia type II
alternative term: mitochondrial aspartate glutamate carrier 2
has db xref: ClinVar:SLC25A13
has db xref: Ensembl:ENSG00000004864
has db xref: Genatlas:SLC25A13
has db xref: HGNC:10983
has db xref: IUPHAR:1055
has db xref: OMIM:603859
has db xref: Reactome:Q9UJS0
has db xref: SwissProt:Q9UJS0
symbol: SLC25A13

solute carrier family 25 member 15
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 415
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q14.11
alternative term: D13S327
alternative term: Mitochondrial ornithine transporter 1
alternative term: ORC1
alternative term: lnc-HC
alternative term: ornithine carrier 1
alternative term: ornithine transporter 1
has db xref: ClinVar:SLC25A15
has db xref: Ensembl:ENSG00000102743
has db xref: Genatlas:SLC25A15
has db xref: HGNC:10985
has db xref: IUPHAR:1060
has db xref: OMIM:603861
has db xref: Reactome:Q9Y619
has db xref: SwissProt:Q9Y619
symbol: SLC25A15

solute carrier family 25 member 19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_217396
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99742
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q25.1
alternative term: DNC
alternative term: Deoxynucleotide carrier
alternative term: MUP1
alternative term: Mitochondrial thiamine pyrophosphate carrier
alternative term: TPC
alternative term: mitochondrial uncoupling protein 1
has db xref: ClinVar:SLC25A19
has db xref: Ensembl:ENSG00000125454
has db xref: Genatlas:SLC25A19
has db xref: HGNC:14409
has db xref: IUPHAR:1073
has db xref: OMIM:606521
has db xref: Reactome:Q9HC21
has db xref: SwissProt:Q9HC21
symbol: SLC25A19

solute carrier family 25 member 20
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 159
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p21.31
alternative term: CAC
alternative term: Mitochondrial carnitine/acylcarnitine carrier protein
alternative term: carnitine-acylcarnitine carrier
alternative term: carnitine/acylcarnitine translocase
has db xref: ClinVar:SLC25A20
has db xref: Ensembl:ENSG00000178537
has db xref: Genatlas:SLC25A20
has db xref: HGNC:1421
has db xref: IUPHAR:1076
has db xref: OMIM:613698
has db xref: Reactome:O43772
has db xref: SwissProt:O43772
symbol: SLC25A20

Ataxia-deafness-intellectual disability syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_247765
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_522520
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98683
alternative term: Ataxia-hearing loss-intellectual disability syndrome
alternative term: Reardon-Baraitser syndrome
definition: A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.
definition citation: Orphanet
has db xref: ICD-10:G11.1
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0008838
has db xref: OMIM:208850
has db xref: UMLS:C4304023
has_inheritance: Unknown
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 8.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1188
notation: ORPHA:1188

Axiom
annotated source: Ataxia-deafness-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-10:G11.1
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Ataxia-deafness-intellectual disability syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Ataxia-deafness-intellectual disability syndrome
annotated property: hasDbXref
annotated target: MONDO:0008838
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-deafness-intellectual disability syndrome
annotated property: hasDbXref
annotated target: OMIM:208850
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Ataxia-deafness-intellectual disability syndrome
annotated property: hasDbXref
annotated target: UMLS:C4304023
manual_assertion: E (Exact mapping: the two concepts are equivalent)

solute carrier family 25 member 22
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1934
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293181
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.5
alternative term: EIEE3
alternative term: Early infantile epileptic encephalopathy 3
alternative term: FLJ13044
alternative term: GC-1
alternative term: GC1
alternative term: NET44
has db xref: ClinVar:SLC25A22
has db xref: Ensembl:ENSG00000177542
has db xref: Genatlas:SLC25A22
has db xref: HGNC:19954
has db xref: IUPHAR:1058
has db xref: OMIM:609302
has db xref: Reactome:Q9H936
has db xref: SwissProt:Q9H936
symbol: SLC25A22

solute carrier family 25 member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254892
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1369
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q35.1
alternative term: AAC1
alternative term: ADP/ATP carrier 1
alternative term: ADP/ATP translocase 1
alternative term: T1
has db xref: ClinVar:SLC25A4
has db xref: Ensembl:ENSG00000151729
has db xref: Genatlas:SLC25A4
has db xref: HGNC:10990
has db xref: IUPHAR:1062
has db xref: OMIM:103220
has db xref: Reactome:P12235
has db xref: SwissProt:P12235
symbol: SLC25A4

solute carrier family 26 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_56304
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93307
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 628
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32
alternative term: DTDST
alternative term: diastrophic dysplasia sulfate transporter
has db xref: ClinVar:SLC26A2
has db xref: Ensembl:ENSG00000155850
has db xref: Genatlas:SLC26A2
has db xref: HGNC:10994
has db xref: IUPHAR:1098
has db xref: OMIM:606718
has db xref: Reactome:P50443
has db xref: SwissProt:P50443
symbol: SLC26A2

solute carrier family 26 member 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_53689
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q22.3-q31.1
alternative term: Chloride anion exchanger
has db xref: ClinVar:SLC26A3
has db xref: Ensembl:ENSG00000091138
has db xref: Genatlas:SLC26A3
has db xref: HGNC:3018
has db xref: IUPHAR:1099
has db xref: OMIM:126650
has db xref: Reactome:P40879
has db xref: SwissProt:P40879
symbol: SLC26A3

solute carrier family 26 member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 705
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90636
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_95713
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_95720
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q22.3
alternative term: PDS
alternative term: Pendred syndrome
alternative term: pendrin
has db xref: ClinVar:SLC26A4
has db xref: Ensembl:ENSG00000091137
has db xref: Genatlas:SLC26A4
has db xref: HGNC:8818
has db xref: IUPHAR:1100
has db xref: OMIM:605646
has db xref: Reactome:O43511
has db xref: SwissProt:O43511
symbol: SLC26A4

solute carrier family 2 member 10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 3342
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q13.12
alternative term: GLUT-10
alternative term: GLUT10
alternative term: facilitative glucose transporter GLUT10
has db xref: ClinVar:SLC2A10
has db xref: Ensembl:ENSG00000197496
has db xref: Genatlas:SLC2A10
has db xref: HGNC:13444
has db xref: IUPHAR:886
has db xref: OMIM:606145
has db xref: Reactome:O95528
has db xref: SwissProt:O95528
symbol: SLC2A10

solute carrier family 2 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2088
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q26.2
alternative term: GLUT-2
has db xref: ClinVar:SLC2A2
has db xref: Ensembl:ENSG00000163581
has db xref: Genatlas:SLC2A2
has db xref: HGNC:11006
has db xref: IUPHAR:876
has db xref: OMIM:138160
has db xref: Reactome:P11168
has db xref: SwissProt:P11168
symbol: SLC2A2

solute carrier family 34 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_60025
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4p15.2
alternative term: NAPI-3B
alternative term: NAPI-IIb
alternative term: NPTIIb
alternative term: NaPi-2b
alternative term: NaPi2b
alternative term: Sodium-dependent phosphate transport protein 2B
has db xref: ClinVar:SLC34A2
has db xref: Ensembl:ENSG00000157765
has db xref: Genatlas:SLC34A2
has db xref: HGNC:11020
has db xref: IUPHAR:1136
has db xref: OMIM:604217
has db xref: Reactome:O95436
has db xref: SwissProt:O95436
symbol: SLC34A2

solute carrier family 34 member 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_157215
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.3
alternative term: FLJ38680
alternative term: NPT2C
alternative term: NPTIIc
alternative term: NaPi-2c
alternative term: Sodium-dependent phosphate transport protein 2C
has db xref: ClinVar:SLC34A3
has db xref: Ensembl:ENSG00000198569
has db xref: Genatlas:SLC34A3
has db xref: HGNC:20305
has db xref: IUPHAR:1137
has db xref: OMIM:609826
has db xref: Reactome:Q8N130
has db xref: SwissProt:Q8N130
symbol: SLC34A3

solute carrier family 35 member C1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99843
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p11.2
alternative term: FLJ11320
alternative term: FUCT1
alternative term: GDP-fucose transporter 1
has db xref: ClinVar:SLC35C1
has db xref: Ensembl:ENSG00000181830
has db xref: Genatlas:SLC35C1
has db xref: HGNC:20197
has db xref: IUPHAR:1147
has db xref: OMIM:605881
has db xref: Reactome:Q96A29
has db xref: SwissProt:Q96A29
symbol: SLC35C1

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_53347
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p11.2
alternative term: SERCA1
alternative term: calcium pump 1
alternative term: sarcoplasmic/endoplasmic reticulum calcium ATPase 1
has db xref: ClinVar:ATP2A1
has db xref: Ensembl:ENSG00000196296
has db xref: Genatlas:ATP2A1
has db xref: HGNC:811
has db xref: IUPHAR:840
has db xref: OMIM:108730
has db xref: Reactome:O14983
has db xref: SwissProt:O14983
symbol: ATP2A1

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 218
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79151
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.11
alternative term: SERCA2
alternative term: calcium pump 2
alternative term: sarcoplasmic/endoplasmic reticulum calcium ATPase 2
has db xref: ClinVar:ATP2A2
has db xref: Ensembl:ENSG00000174437
has db xref: Genatlas:ATP2A2
has db xref: HGNC:812
has db xref: IUPHAR:841
has db xref: OMIM:108740
has db xref: Reactome:P16615
has db xref: SwissProt:P16615
symbol: ATP2A2

ATPase secretory pathway Ca2+ transporting 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2841
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q22.1
alternative term: ATP2C1A
alternative term: KIAA1347
alternative term: PMR1
alternative term: SPCA1
alternative term: calcium-transporting ATPase type 2C member 1
alternative term: secretory pathway Ca2+/Mn2+ ATPase 1
has db xref: ClinVar:ATP2C1
has db xref: Ensembl:ENSG00000017260
has db xref: Genatlas:ATP2C1
has db xref: HGNC:13211
has db xref: IUPHAR:847
has db xref: OMIM:604384
has db xref: Reactome:P98194
has db xref: SwissProt:P98194
symbol: ATP2C1

ATPase H+ transporting accessory protein 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_363654
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93952
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.4
alternative term: (P)RR
alternative term: APT6M8-9
alternative term: ATP6M8-9
alternative term: M8-9
alternative term: PRR
alternative term: RENR
alternative term: V-ATPase M8.9 subunit
alternative term: prorenin receptor
alternative term: renin receptor
has db xref: ClinVar:ATP6AP2
has db xref: Ensembl:ENSG00000182220
has db xref: Genatlas:ATP6AP2
has db xref: HGNC:18305
has db xref: OMIM:300556
has db xref: Reactome:O75787
has db xref: SwissProt:O75787
symbol: ATP6AP2

ATPase H+ transporting V0 subunit a4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_402041
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q34
alternative term: RDRTA2
alternative term: RTADR
alternative term: Stv1
alternative term: V-ATPase subunit a4
alternative term: VPP2
alternative term: Vph1
alternative term: a4
alternative term: vacuolar proton pump subunit 2
has db xref: ClinVar:ATP6V0A4
has db xref: Ensembl:ENSG00000105929
has db xref: Genatlas:ATP6V0A4
has db xref: HGNC:866
has db xref: IUPHAR:826
has db xref: OMIM:605239
has db xref: Reactome:Q9HBG4
has db xref: SwissProt:Q9HBG4
symbol: ATP6V0A4

ATPase H+ transporting V1 subunit B1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_402041
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p13.3
alternative term: RTA1B
alternative term: Renal tubular acidosis with deafness
alternative term: V-ATPase subunit B1
alternative term: VATB
alternative term: Vma2
has db xref: ClinVar:ATP6V1B1
has db xref: Ensembl:ENSG00000116039
has db xref: Genatlas:ATP6V1B1
has db xref: HGNC:853
has db xref: IUPHAR:811
has db xref: OMIM:192132
has db xref: Reactome:P15313
has db xref: SwissProt:P15313
symbol: ATP6V1B1

ATPase copper transporting alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139557
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 198
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 388
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 565
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq21.1
alternative term: copper pump 1
alternative term: copper-transporting ATPase 1
has db xref: ClinVar:ATP7A
has db xref: Ensembl:ENSG00000165240
has db xref: Genatlas:ATP7A
has db xref: HGNC:869
has db xref: IUPHAR:852
has db xref: OMIM:300011
has db xref: Reactome:Q04656
has db xref: SwissProt:Q04656
symbol: ATP7A

ATPase copper transporting beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 905
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q14.3
alternative term: Wilson disease
alternative term: copper pump 2
alternative term: copper-transporting ATPase 2
has db xref: ClinVar:ATP7B
has db xref: Ensembl:ENSG00000123191
has db xref: Genatlas:ATP7B
has db xref: HGNC:870
has db xref: IUPHAR:853
has db xref: OMIM:606882
has db xref: Reactome:P35670
has db xref: SwissProt:P35670
symbol: ATP7B

ATPase phospholipid transporting 8B1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79306
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99960
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_69665
subclass of: Restriction
  on property: has_chromosomal location
  has value: 18q21.31
alternative term: ATPIC
alternative term: PFIC
alternative term: phospholipid-transporting ATPase IC
has db xref: ClinVar:ATP8B1
has db xref: Ensembl:ENSG00000081923
has db xref: Genatlas:ATP8B1
has db xref: HGNC:3706
has db xref: IUPHAR:856
has db xref: OMIM:602397
has db xref: Reactome:O43520
has db xref: SwissProt:O43520
symbol: ATP8B1

ATP synthase mitochondrial F1 complex assembly factor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254913
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p11.2
alternative term: ATP12
alternative term: Atp12p
alternative term: LP3663
alternative term: MGC29736
has db xref: ClinVar:ATPAF2
has db xref: Ensembl:ENSG00000171953
has db xref: Genatlas:ATPAF2
has db xref: HGNC:18802
has db xref: OMIM:608918
has db xref: Reactome:Q8N5M1
has db xref: SwissProt:Q8N5M1
symbol: ATPAF2

ATR checkpoint kinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_313846
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 808
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q23
alternative term: FRP1
alternative term: MEC1
alternative term: MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
alternative term: SCKL
alternative term: SCKL1
has db xref: ClinVar:ATR
has db xref: Ensembl:ENSG00000175054
has db xref: Genatlas:ATR
has db xref: HGNC:882
has db xref: IUPHAR:1935
has db xref: OMIM:601215
has db xref: Reactome:Q13535
has db xref: SwissProt:Q13535
symbol: ATR

ATRX chromatin remodeler
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 847
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_231401
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_96253
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Neuroendocrine tumor of stomach
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq21.1
alternative term: RAD54 homolog (S. cerevisiae)
alternative term: XH2
alternative term: XNP
has db xref: ClinVar:ATRX
has db xref: Ensembl:ENSG00000085224
has db xref: Genatlas:ATRX
has db xref: HGNC:886
has db xref: OMIM:300032
has db xref: Reactome:P46100
has db xref: SwissProt:P46100
symbol: ATRX

ataxin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98755
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p22.3
alternative term: ATX1
alternative term: D6S504E
has db xref: ClinVar:ATXN1
has db xref: Ensembl:ENSG00000124788
has db xref: Genatlas:ATXN1
has db xref: HGNC:10548
has db xref: OMIM:601556
has db xref: Reactome:P54253
has db xref: SwissProt:P54253
symbol: ATXN1

ataxin 10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98761
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.31
alternative term: ATX10
alternative term: E46L
alternative term: FLJ37990
has db xref: ClinVar:ATXN10
has db xref: Ensembl:ENSG00000130638
has db xref: Genatlas:ATXN10
has db xref: HGNC:10549
has db xref: OMIM:611150
has db xref: Reactome:Q9UBB4
has db xref: SwissProt:Q9UBB4
symbol: ATXN10

ataxin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98756
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 803
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.12
alternative term: ATX2
alternative term: trinucleotide repeat containing 13
has db xref: ClinVar:ATXN2
has db xref: Ensembl:ENSG00000204842
has db xref: Genatlas:ATXN2
has db xref: HGNC:10555
has db xref: OMIM:601517
has db xref: Reactome:Q99700
has db xref: SwissProt:Q99700
symbol: ATXN2

ataxin 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276238
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276241
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276244
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q32.12
alternative term: ATX3
alternative term: JOS
has db xref: ClinVar:ATXN3
has db xref: Ensembl:ENSG00000066427
has db xref: Genatlas:ATXN3
has db xref: HGNC:7106
has db xref: OMIM:607047
has db xref: Reactome:P54252
has db xref: SwissProt:P54252
symbol: ATXN3

ataxin 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_94147
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p14.1
alternative term: ADCAII
alternative term: Autosomal dominant cerebellar ataxia with retinal degeneration
alternative term: OPCA3
alternative term: SAGA associated factor 73 kDa homolog (S. cerevisiae)
alternative term: SGF73
has db xref: ClinVar:ATXN7
has db xref: Ensembl:ENSG00000163635
has db xref: Genatlas:ATXN7
has db xref: HGNC:10560
has db xref: OMIM:607640
has db xref: Reactome:O15265
has db xref: SwissProt:O15265
symbol: ATXN7

ataxin 8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98760
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q21.33
has db xref: ClinVar:ATXN8
has db xref: Ensembl:ENSG00000288330
has db xref: Genatlas:ATXN8
has db xref: HGNC:32925
has db xref: OMIM:613289
has db xref: SwissProt:Q156A1
symbol: ATXN8

AU RNA binding methylglutaconyl-CoA hydratase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_67046
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q22.31
has db xref: ClinVar:AUH
has db xref: Ensembl:ENSG00000148090
has db xref: Genatlas:AUH
has db xref: HGNC:890
has db xref: OMIM:600529
has db xref: Reactome:Q13825
has db xref: SwissProt:Q13825
symbol: AUH

arginine vasopressin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_30925
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20p13
alternative term: ADH
alternative term: antidiuretic hormone
alternative term: argipressin
alternative term: copeptin
alternative term: diabetes insipidus
alternative term: neurohypophyseal
alternative term: neurophysin II
alternative term: prepro-AVP-NP II
alternative term: prepro-arginine-vasopressin-neurophysin II
has db xref: ClinVar:AVP
has db xref: Ensembl:ENSG00000101200
has db xref: Genatlas:AVP
has db xref: HGNC:894
has db xref: OMIM:192340
has db xref: Reactome:P01185
has db xref: SwissProt:P01185
symbol: AVP

arginine vasopressin receptor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 223
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_93606
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq28
alternative term: V2R
alternative term: nephrogenic diabetes insipidus
has db xref: ClinVar:AVPR2
has db xref: Ensembl:ENSG00000126895
has db xref: Genatlas:AVPR2
has db xref: HGNC:897
has db xref: IUPHAR:368
has db xref: OMIM:300538
has db xref: Reactome:P30518
has db xref: SwissProt:P30518
symbol: AVPR2

axin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_401911
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q24.1
alternative term: DKFZp781B0869
alternative term: MGC126582
alternative term: axil
alternative term: conductin
has db xref: ClinVar:AXIN2
has db xref: Ensembl:ENSG00000168646
has db xref: Genatlas:AXIN2
has db xref: HGNC:904
has db xref: IUPHAR:3237
has db xref: OMIM:604025
has db xref: Reactome:Q9Y2T1
has db xref: SwissProt:Q9Y2T1
symbol: AXIN2

beta 3-glucosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 709
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q12.3
alternative term: B3GTL
alternative term: B3Glc-T
alternative term: beta-1,3-glucosyltransferase
has db xref: ClinVar:B3GALTL
has db xref: Ensembl:ENSG00000187676
has db xref: Genatlas:B3GALTL
has db xref: HGNC:20207
has db xref: OMIM:610308
has db xref: Reactome:Q6Y288
has db xref: SwissProt:Q6Y288
symbol: B3GLCT

beta-1,4-galactosyltransferase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79332
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9p21.1
alternative term: Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
alternative term: N-acetyllactosamine synthase
alternative term: beta4Gal-T1
alternative term: lactose synthase A
has db xref: ClinVar:B4GALT1
has db xref: Ensembl:ENSG00000086062
has db xref: Genatlas:B4GALT1
has db xref: HGNC:924
has db xref: OMIM:137060
has db xref: Reactome:P15291
has db xref: SwissProt:P15291
symbol: B4GALT1

beta-1,4-galactosyltransferase 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75496
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q35.3
alternative term: XGALT-1
alternative term: beta4Gal-T7
alternative term: galactosyltransferase I
has db xref: ClinVar:B4GALT7
has db xref: Ensembl:ENSG00000027847
has db xref: Genatlas:B4GALT7
has db xref: HGNC:930
has db xref: OMIM:604327
has db xref: Reactome:Q9UBV7
has db xref: SwissProt:Q9UBV7
symbol: B4GALT7

bromodomain adjacent to zinc finger domain 1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 904
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q11.23
alternative term: WSTF
alternative term: Williams-Beuren syndrome chromosome region 10
alternative term: Williams-Beuren syndrome chromosome region 9
alternative term: transcription factor WSTF
has db xref: ClinVar:BAZ1B
has db xref: Ensembl:ENSG00000009954
has db xref: Genatlas:BAZ1B
has db xref: HGNC:961
has db xref: IUPHAR:2774
has db xref: OMIM:605681
has db xref: Reactome:Q9UIG0
has db xref: SwissProt:Q9UIG0
symbol: BAZ1B

Bardet-Biedl syndrome 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.2
alternative term: FLJ23590
has db xref: ClinVar:BBS1
has db xref: Ensembl:ENSG00000174483
has db xref: Genatlas:BBS1
has db xref: HGNC:966
has db xref: OMIM:209901
has db xref: Reactome:Q8NFJ9
has db xref: SwissProt:Q8NFJ9
symbol: BBS1

Bardet-Biedl syndrome 10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q21.2
alternative term: FLJ23560
has db xref: ClinVar:BBS10
has db xref: Ensembl:ENSG00000179941
has db xref: Genatlas:BBS10
has db xref: HGNC:26291
has db xref: OMIM:610148
has db xref: Reactome:Q8TAM1
has db xref: SwissProt:Q8TAM1
symbol: BBS10

Bardet-Biedl syndrome 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q13
has db xref: ClinVar:BBS2
has db xref: Ensembl:ENSG00000125124
has db xref: Genatlas:BBS2
has db xref: HGNC:967
has db xref: OMIM:606151
has db xref: Reactome:Q9BXC9
has db xref: SwissProt:Q9BXC9
symbol: BBS2

Bardet-Biedl syndrome 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q24.1
has db xref: ClinVar:BBS4
has db xref: Ensembl:ENSG00000140463
has db xref: Genatlas:BBS4
has db xref: HGNC:969
has db xref: OMIM:600374
has db xref: Reactome:Q96RK4
has db xref: SwissProt:Q96RK4
symbol: BBS4

Bardet-Biedl syndrome 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q31.1
alternative term: DKFZp762I194
has db xref: ClinVar:BBS5
has db xref: Ensembl:ENSG00000163093
has db xref: Genatlas:BBS5
has db xref: HGNC:970
has db xref: OMIM:603650
has db xref: Reactome:Q8N3I7
has db xref: SwissProt:Q8N3I7
symbol: BBS5

Bardet-Biedl syndrome 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q27
alternative term: BBS2L1
alternative term: FLJ10715
has db xref: ClinVar:BBS7
has db xref: Ensembl:ENSG00000138686
has db xref: Genatlas:BBS7
has db xref: HGNC:18758
has db xref: OMIM:607590
has db xref: Reactome:Q8IWZ6
has db xref: SwissProt:Q8IWZ6
symbol: BBS7

Bardet-Biedl syndrome 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p14.3
alternative term: B1
alternative term: PTHB1
alternative term: parathyroid hormone responsive B1 gene
has db xref: ClinVar:BBS9
has db xref: Ensembl:ENSG00000122507
has db xref: Genatlas:BBS9
has db xref: HGNC:30000
has db xref: OMIM:607968
has db xref: Reactome:Q3SYG4
has db xref: SwissProt:Q3SYG4
symbol: BBS9

butyrylcholinesterase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 132
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q26.1
alternative term: E1
has db xref: ClinVar:BCHE
has db xref: Ensembl:ENSG00000114200
has db xref: Genatlas:BCHE
has db xref: HGNC:983
has db xref: IUPHAR:2471
has db xref: OMIM:177400
has db xref: Reactome:P06276
has db xref: SwissProt:P06276
symbol: BCHE

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Autosomal recessive limb-girdle muscular dystrophy
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_207063
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_217610
alternative term: Autosomal recessive limb-girdle muscular dystrophy type 2E
alternative term: Beta-sarcoglycan-related LGMD R4
alternative term: Beta-sarcoglycanopathy
alternative term: LGMD due to beta-sarcoglycan deficiency
alternative term: LGMD type 2E
alternative term: LGMD2E
alternative term: Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
alternative term: Limb-girdle muscular dystrophy type 2E
definition: A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
definition citation: Orphanet
has db xref: ICD-10:G71.0
has db xref: ICD-11:8C70.41
has db xref: MONDO:0011423
has db xref: MeSH:C535902
has db xref: OMIM:604286
has db xref: UMLS:C1858593
has_inheritance: Autosomal recessive
has_age_of_onset: Adolescent
has_age_of_onset: Childhood
present_in: Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000
present_in: United Kingdom AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/119
notation: ORPHA:119

Axiom
annotated source: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
annotated property: hasDbXref
annotated target: ICD-10:G71.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
annotated property: hasDbXref
annotated target: ICD-11:8C70.41
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
annotated property: hasDbXref
annotated target: MONDO:0011423
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
annotated property: hasDbXref
annotated target: MeSH:C535902
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
annotated property: hasDbXref
annotated target: OMIM:604286
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
annotated property: hasDbXref
annotated target: UMLS:C1858593
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Atelosteogenesis type I
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_138055
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93425
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93441
alternative term: AO1
alternative term: AOI
alternative term: Atelosteogenesis type 1
alternative term: Giant cell chondrodysplasia
alternative term: Spondylo-humero-femoral dysplasia
definition: A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
definition citation: Orphanet
has db xref: ICD-10:Q78.8
has db xref: ICD-11:LD24.E
has db xref: MONDO:0007167
has db xref: MeSH:C535396
has db xref: OMIM:108720
has db xref: UMLS:C0265283
has_inheritance: Autosomal dominant
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1190
notation: ORPHA:1190

Axiom
annotated source: Atelosteogenesis type I
annotated property: hasDbXref
annotated target: ICD-10:Q78.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Atelosteogenesis type I
annotated property: hasDbXref
annotated target: ICD-11:LD24.E
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Atelosteogenesis type I
annotated property: hasDbXref
annotated target: MONDO:0007167
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atelosteogenesis type I
annotated property: hasDbXref
annotated target: MeSH:C535396
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atelosteogenesis type I
annotated property: hasDbXref
annotated target: OMIM:108720
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atelosteogenesis type I
annotated property: hasDbXref
annotated target: UMLS:C0265283
manual_assertion: E (Exact mapping: the two concepts are equivalent)

branched chain keto acid dehydrogenase E1 subunit alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_268145
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_268162
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_268173
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.2
alternative term: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
alternative term: MSU
alternative term: maple syrup urine disease
has db xref: ClinVar:BCKDHA
has db xref: Ensembl:ENSG00000248098
has db xref: Genatlas:BCKDHA
has db xref: HGNC:986
has db xref: OMIM:608348
has db xref: Reactome:P12694
has db xref: SwissProt:P12694
symbol: BCKDHA

branched chain keto acid dehydrogenase E1 subunit beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_268145
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_268162
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_268173
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q14.1
alternative term: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
alternative term: OVD1B
alternative term: maple syrup urine disease
has db xref: ClinVar:BCKDHB
has db xref: Ensembl:ENSG00000083123
has db xref: Genatlas:BCKDHB
has db xref: HGNC:987
has db xref: OMIM:248611
has db xref: Reactome:P21953
has db xref: SwissProt:P21953
symbol: BCKDHB

BCL2 apoptosis regulator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_480541
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 545
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet_98839
subclass of: Restriction
  on property: has_chromosomal location
  has value: 18q21.33
alternative term: Bcl-2
alternative term: PPP1R50
alternative term: protein phosphatase 1, regulatory subunit 50
has db xref: ClinVar:BCL2
has db xref: Ensembl:ENSG00000171791
has db xref: Genatlas:BCL2
has db xref: HGNC:990
has db xref: IUPHAR:2844
has db xref: OMIM:151430
has db xref: Reactome:P10415
has db xref: SwissProt:P10415
symbol: BCL2

BCL6 corepressor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2712
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 568
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_457246
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 520
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.4
alternative term: BCL-6 coreceptor
alternative term: BCL6 interacting corepressor
alternative term: FLJ20285
alternative term: KIAA1575
has db xref: ClinVar:BCOR
has db xref: Ensembl:ENSG00000183337
has db xref: Genatlas:BCOR
has db xref: HGNC:20893
has db xref: OMIM:300485
has db xref: Reactome:Q6W2J9
has db xref: SwissProt:Q6W2J9
symbol: BCOR

BCR activator of RhoGEF and GTPase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 521
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_585909
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_99861
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_261330
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q11.23
alternative term: ALL
alternative term: CML
alternative term: D22S662
alternative term: PHL
has db xref: ClinVar:BCR
has db xref: Ensembl:ENSG00000186716
has db xref: Genatlas:BCR
has db xref: HGNC:1014
has db xref: IUPHAR:2755
has db xref: OMIM:151410
has db xref: Reactome:P11274
has db xref: SwissProt:P11274
symbol: BCR

BCS1 ubiquinol-cytochrome c reductase complex chaperone
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 123
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1460
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_254902
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_53693
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q35
alternative term: BCS
alternative term: BJS
alternative term: Bjornstad syndrome
alternative term: GRACILE syndrome
alternative term: Hs.6719
alternative term: h-BCS
has db xref: ClinVar:BCS1L
has db xref: Ensembl:ENSG00000074582
has db xref: Genatlas:BCS1L
has db xref: HGNC:1020
has db xref: OMIM:603647
has db xref: Reactome:Q9Y276
has db xref: SwissProt:Q9Y276
symbol: BCS1L

brain derived neurotrophic factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 893
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 661
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p14.1
alternative term: neurotrophin
has db xref: ClinVar:BDNF
has db xref: Ensembl:ENSG00000176697
has db xref: Genatlas:BDNF
has db xref: HGNC:1033
has db xref: OMIM:113505
has db xref: SwissProt:P23560
symbol: BDNF

bestrophin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1243
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139455
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_263347
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3086
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_35612
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99000
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q12.3
alternative term: BEST
alternative term: BMD
alternative term: Best disease
alternative term: RP50
has db xref: ClinVar:BEST1
has db xref: Ensembl:ENSG00000167995
has db xref: Genatlas:BEST1
has db xref: HGNC:12703
has db xref: OMIM:607854
has db xref: Reactome:O76090
has db xref: SwissProt:O76090
symbol: BEST1

beaded filament structural protein 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_441452
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98984
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98985
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q22.1
alternative term: CP47
alternative term: CP49
alternative term: LIFL-L
alternative term: phakinin
has db xref: ClinVar:BFSP2
has db xref: Ensembl:ENSG00000170819
has db xref: Genatlas:BFSP2
has db xref: HGNC:1041
has db xref: OMIM:603212
has db xref: Reactome:Q13515
has db xref: SwissProt:Q13515
symbol: BFSP2

biogenesis of lysosomal organelles complex 1 subunit 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_231531
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.32
alternative term: BLOC-1 subunit 3
alternative term: BLOS3
alternative term: Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
alternative term: HPS8
alternative term: Hermansky-Pudlak syndrome 8
has db xref: ClinVar:BLOC1S3
has db xref: Ensembl:ENSG00000189114
has db xref: Genatlas:BLOC1S3
has db xref: HGNC:20914
has db xref: OMIM:609762
has db xref: Reactome:Q6QNY0
has db xref: SwissProt:Q6QNY0
symbol: BLOC1S3

bone morphogenetic protein receptor type 1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_329971
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_440437
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_79076
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_157794
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q23.2
alternative term: ALK3
alternative term: CD292
has db xref: ClinVar:BMPR1A
has db xref: Ensembl:ENSG00000107779
has db xref: Genatlas:BMPR1A
has db xref: HGNC:1076
has db xref: IUPHAR:1786
has db xref: OMIM:601299
has db xref: Reactome:P36894
has db xref: SwissProt:P36894
symbol: BMPR1A

bone morphogenetic protein receptor type 1B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2639
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93396
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_93384
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2098
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_93388
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q22.3
alternative term: ALK6
alternative term: CDw293
has db xref: ClinVar:BMPR1B
has db xref: Ensembl:ENSG00000138696
has db xref: Genatlas:BMPR1B
has db xref: HGNC:1077
has db xref: IUPHAR:1789
has db xref: OMIM:603248
has db xref: Reactome:O00238
has db xref: SwissProt:O00238
symbol: BMPR1B

bone morphogenetic protein receptor type 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_275786
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_31837
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_275777
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q33.1-q33.2
alternative term: BMPR-II
alternative term: BMPR3
alternative term: BRK-3
alternative term: T-ALK
has db xref: ClinVar:BMPR2
has db xref: Ensembl:ENSG00000204217
has db xref: Genatlas:BMPR2
has db xref: HGNC:1078
has db xref: IUPHAR:1794
has db xref: OMIM:600799
has db xref: Reactome:Q13873
has db xref: SwissProt:Q13873
symbol: BMPR2

bisphosphoglycerate mutase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 714
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247378
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q33
has db xref: ClinVar:BPGM
has db xref: Ensembl:ENSG00000172331
has db xref: Genatlas:BPGM
has db xref: HGNC:1093
has db xref: OMIM:613896
has db xref: Reactome:P07738
has db xref: SwissProt:P07738
symbol: BPGM

B-Raf proto-oncogene, serine/threonine kinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 500
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 648
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 146
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_251615
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 389
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_54595
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_58017
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 626
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 840
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_96253
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_251615
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 626
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 1340
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q34
alternative term: BRAF-1
alternative term: BRAF1
has db xref: ClinVar:BRAF
has db xref: Ensembl:ENSG00000157764
has db xref: Genatlas:BRAF
has db xref: HGNC:1097
has db xref: IUPHAR:1943
has db xref: OMIM:164757
has db xref: Reactome:P15056
has db xref: SwissProt:P15056
symbol: BRAF

BRCA1 DNA repair associated
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_70567
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1331
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1333
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_168829
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_227535
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_667662
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_694963
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 145
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 84
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q21.31
alternative term: BRCA1/BRCA2-containing complex, subunit 1
alternative term: BRCC1
alternative term: FANCS
alternative term: Fanconi anemia, complementation group S
alternative term: PPP1R53
alternative term: RNF53
alternative term: protein phosphatase 1, regulatory subunit 53
has db xref: ClinVar:BRCA1
has db xref: Ensembl:ENSG00000012048
has db xref: Genatlas:BRCA1
has db xref: HGNC:1100
has db xref: OMIM:113705
has db xref: Reactome:P38398
has db xref: SwissProt:P38398
symbol: BRCA1

BRCA2 DNA repair associated
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_319462
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_440437
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 84
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_70567
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1331
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1333
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 178
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_227535
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_667662
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_694963
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 654
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 145
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q13.1
alternative term: BRCA1/BRCA2-containing complex, subunit 2
alternative term: BRCC2
alternative term: FAD
alternative term: FAD1
alternative term: XRCC11
has db xref: ClinVar:BRCA2
has db xref: Ensembl:ENSG00000139618
has db xref: Genatlas:BRCA2
has db xref: HGNC:1101
has db xref: OMIM:600185
has db xref: Reactome:P51587
has db xref: SwissProt:P51587
symbol: BRCA2

BRCA1 interacting DNA helicase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 84
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 145
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q23.2
alternative term: BACH1
alternative term: BRCA1 interacting protein 1
alternative term: BRCA1-associated C-terminal helicase
alternative term: BRCA1/BRCA2-associated helicase 1
alternative term: FANCJ
alternative term: FANCJ helicase
alternative term: OF
has db xref: ClinVar:BRIP1
has db xref: Ensembl:ENSG00000136492
has db xref: Genatlas:BRIP1
has db xref: HGNC:20473
has db xref: OMIM:605882
has db xref: Reactome:Q9BX63
has db xref: SwissProt:Q9BX63
symbol: BRIP1

BSCL2 lipid droplet biogenesis associated, seipin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Autosomal dominant spastic paraplegia type 17
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139536
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_363400
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_696289
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q12.3
alternative term: seipin
has db xref: ClinVar:BSCL2
has db xref: Ensembl:ENSG00000168000
has db xref: Genatlas:BSCL2
has db xref: HGNC:15832
has db xref: OMIM:606158
has db xref: SwissProt:Q96G97
symbol: BSCL2

barttin CLCNK type accessory subunit beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_89938
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90636
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p32.3
alternative term: BART
has db xref: ClinVar:BSND
has db xref: Ensembl:ENSG00000162399
has db xref: Genatlas:BSND
has db xref: HGNC:16512
has db xref: OMIM:606412
has db xref: Reactome:Q8WZ55
has db xref: SwissProt:Q8WZ55
symbol: BSND

biotinidase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79241
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p25.1
alternative term: biocytinase
alternative term: biotinase
has db xref: ClinVar:BTD
has db xref: Ensembl:ENSG00000169814
has db xref: Genatlas:BTD
has db xref: HGNC:1122
has db xref: OMIM:609019
has db xref: Reactome:P43251
has db xref: SwissProt:P43251
symbol: BTD

Bruton tyrosine kinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 47
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 632
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq22.1
alternative term: ATK
alternative term: Bruton's tyrosine kinase
alternative term: PSCTK1
alternative term: XLA
has db xref: ClinVar:BTK
has db xref: Ensembl:ENSG00000010671
has db xref: Genatlas:BTK
has db xref: HGNC:1133
has db xref: IUPHAR:1948
has db xref: OMIM:300300
has db xref: Reactome:Q06187
has db xref: SwissProt:Q06187
symbol: BTK

BUB1 mitotic checkpoint serine/threonine kinase B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Mosaic variegated aneuploidy syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q15.1
alternative term: BUBR1
alternative term: Bub1A
alternative term: MAD3L
alternative term: SSK1
has db xref: ClinVar:BUB1B
has db xref: Ensembl:ENSG00000156970
has db xref: Genatlas:BUB1B
has db xref: HGNC:1149
has db xref: IUPHAR:1950
has db xref: OMIM:602860
has db xref: Reactome:O60566
has db xref: SwissProt:O60566
symbol: BUB1B

complement C2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_169147
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p21.33
has db xref: ClinVar:C2
has db xref: Ensembl:ENSG00000166278
has db xref: Genatlas:C2
has db xref: HGNC:1248
has db xref: OMIM:613927
has db xref: Reactome:P06681
has db xref: SwissProt:P06681
symbol: C2

M-phase specific PLK1 interacting protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33364
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p14.1
alternative term: ORF20
alternative term: TTDN1
alternative term: tricothiodystrophy, non-photosensitive 1
has db xref: ClinVar:C7orf11
has db xref: Ensembl:ENSG00000168303
has db xref: Genatlas:C7orf11
has db xref: HGNC:16002
has db xref: OMIM:609188
has db xref: SwissProt:Q8TAP9
symbol: MPLKIP

carbonic anhydrase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2785
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q21.2
alternative term: CA-II
alternative term: CAII
alternative term: Car2
has db xref: ClinVar:CA2
has db xref: Ensembl:ENSG00000104267
has db xref: Genatlas:CA2
has db xref: HGNC:1373
has db xref: IUPHAR:3092
has db xref: OMIM:611492
has db xref: Reactome:P00918
has db xref: SwissProt:P00918
symbol: CA2

carbonic anhydrase 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q23.1
alternative term: CAIV
alternative term: Car4
has db xref: ClinVar:CA4
has db xref: Ensembl:ENSG00000167434
has db xref: Genatlas:CA4
has db xref: HGNC:1375
has db xref: IUPHAR:2599
has db xref: OMIM:114760
has db xref: Reactome:P22748
has db xref: SwissProt:P22748
symbol: CA4

calcium binding protein 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_714070
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98784
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.2
alternative term: CSNB2B
has db xref: ClinVar:CABP4
has db xref: Ensembl:ENSG00000175544
has db xref: Genatlas:CABP4
has db xref: HGNC:1386
has db xref: OMIM:608965
has db xref: SwissProt:P57796
symbol: CABP4

calcium voltage-gated channel subunit alpha1 A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_442835
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 569
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_71518
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98758
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 2131
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 2382
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 97
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 2382
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.13
alternative term: APCA
alternative term: Cav2.1
alternative term: EA2
alternative term: FHM
alternative term: HPCA
has db xref: ClinVar:CACNA1A
has db xref: Ensembl:ENSG00000141837
has db xref: Genatlas:CACNA1A
has db xref: HGNC:1388
has db xref: IUPHAR:532
has db xref: OMIM:601011
has db xref: Reactome:O00555
has db xref: SwissProt:O00555
symbol: CACNA1A

calcium voltage-gated channel subunit alpha1 C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Romano-Ward syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 130
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_528084
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_595098
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_595105
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_595109
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12p13.33
alternative term: CACH2
alternative term: CACN2
alternative term: Cav1.2
alternative term: LQT8
alternative term: TS
has db xref: ClinVar:CACNA1C
has db xref: Ensembl:ENSG00000151067
has db xref: Genatlas:CACNA1C
has db xref: HGNC:1390
has db xref: IUPHAR:529
has db xref: OMIM:114205
has db xref: Reactome:Q13936
has db xref: SwissProt:Q13936
symbol: CACNA1C

calcium voltage-gated channel subunit alpha1 F
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_178333
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_714070
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.23
alternative term: CORDX3
alternative term: CSNB2A
alternative term: CSNBX2
alternative term: Cav1.4
alternative term: JM8
alternative term: JMC8
alternative term: OA2
has db xref: ClinVar:CACNA1F
has db xref: Ensembl:ENSG00000102001
has db xref: Genatlas:CACNA1F
has db xref: HGNC:1393
has db xref: IUPHAR:531
has db xref: OMIM:300110
has db xref: Reactome:O60840
has db xref: SwissProt:O60840
symbol: CACNA1F

calcium voltage-gated channel subunit alpha1 S
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_397755
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 681
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 423
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_79102
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q32.1
alternative term: Cav1.1
alternative term: hypoPP
has db xref: ClinVar:CACNA1S
has db xref: Ensembl:ENSG00000081248
has db xref: Genatlas:CACNA1S
has db xref: HGNC:1397
has db xref: IUPHAR:528
has db xref: OMIM:114208
has db xref: Reactome:Q13698
has db xref: SwissProt:Q13698
symbol: CACNA1S

calcium voltage-gated channel auxiliary subunit beta 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 130
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10p12
has db xref: ClinVar:CACNB2
has db xref: Ensembl:ENSG00000165995
has db xref: Genatlas:CACNB2
has db xref: HGNC:1402
has db xref: OMIM:600003
has db xref: Reactome:Q08289
has db xref: SwissProt:Q08289
symbol: CACNB2

calcium voltage-gated channel auxiliary subunit beta 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_211067
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 307
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q23.3
alternative term: EJM4
has db xref: ClinVar:CACNB4
has db xref: Ensembl:ENSG00000182389
has db xref: Genatlas:CACNB4
has db xref: HGNC:1404
has db xref: OMIM:601949
has db xref: Reactome:O00305
has db xref: SwissProt:O00305
symbol: CACNB4

calpain 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 267
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_565909
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q15.1
alternative term: CANP3
alternative term: nCL-1
alternative term: p94
has db xref: ClinVar:CAPN3
has db xref: Ensembl:ENSG00000092529
has db xref: Genatlas:CAPN3
has db xref: HGNC:1480
has db xref: OMIM:114240
has db xref: Reactome:P20807
has db xref: SwissProt:P20807
symbol: CAPN3

caspase 10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3261
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q33.1
alternative term: FAS-associated death domain protein interleukin-1B-converting enzyme 2
alternative term: FLICE-2
alternative term: MCH4
has db xref: ClinVar:CASP10
has db xref: Ensembl:ENSG00000003400
has db xref: Genatlas:CASP10
has db xref: HGNC:1500
has db xref: IUPHAR:1626
has db xref: OMIM:601762
has db xref: Reactome:Q92851
has db xref: SwissProt:Q92851
symbol: CASP10

calsequestrin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3286
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p13.1
alternative term: PDIB2
has db xref: ClinVar:CASQ2
has db xref: Ensembl:ENSG00000118729
has db xref: Genatlas:CASQ2
has db xref: HGNC:1513
has db xref: OMIM:114251
has db xref: Reactome:O14958
has db xref: SwissProt:O14958
symbol: CASQ2

calcium sensing receptor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 676
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 417
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_93372
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 428
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q13.33-q21.1
alternative term: FHH
alternative term: GPRC2A
alternative term: NSHPT
alternative term: severe neonatal hyperparathyroidism
has db xref: ClinVar:CASR
has db xref: Ensembl:ENSG00000036828
has db xref: Genatlas:CASR
has db xref: HGNC:1514
has db xref: IUPHAR:54
has db xref: OMIM:601199
has db xref: Reactome:P41180
has db xref: SwissProt:P41180
symbol: CASR

catalase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 926
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p13
has db xref: ClinVar:CAT
has db xref: Ensembl:ENSG00000121691
has db xref: Genatlas:CAT
has db xref: HGNC:1516
has db xref: IUPHAR:2979
has db xref: OMIM:115500
has db xref: Reactome:P04040
has db xref: SwissProt:P04040
symbol: CAT

caveolin 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_206599
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_488650
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97238
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Romano-Ward syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p25.3
alternative term: LGMD1C
alternative term: LQT9
alternative term: M-caveolin
alternative term: VIP-21
alternative term: VIP21
has db xref: ClinVar:CAV3
has db xref: Ensembl:ENSG00000182533
has db xref: Genatlas:CAV3
has db xref: HGNC:1529
has db xref: OMIM:601253
has db xref: Reactome:P56539
has db xref: SwissProt:P56539
symbol: CAV3

cystathionine beta-synthase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 394
subclass of: Restriction
  on property: has_chromosomal location
  has value: 21q22.3
alternative term: HIP4
has db xref: ClinVar:CBS
has db xref: Ensembl:ENSG00000160200
has db xref: Genatlas:CBS
has db xref: HGNC:1550
has db xref: IUPHAR:1443
has db xref: OMIM:613381
has db xref: Reactome:P35520
has db xref: SwissProt:P35520
symbol: CBS

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_93547
alternative term: Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome
alternative term: Feigenbaum-Bergeron-Richardson syndrome
definition: A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
definition citation: Orphanet
has db xref: ICD-10:I70.9
has db xref: ICD-11:LD2H.Y
has db xref: MONDO:0008843
has db xref: MeSH:C536178
has db xref: OMIM:209010
has db xref: UMLS:C2931125
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
present_in: Worldwide AND has_cases/families_value : 2.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
historical entity: Historical entity
website link: https://www.orpha.net/en/disease/detail/1192
notation: ORPHA:1192

Axiom
annotated source: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
annotated property: hasDbXref
annotated target: ICD-10:I70.9
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
annotated property: hasDbXref
annotated target: ICD-11:LD2H.Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
annotated property: hasDbXref
annotated target: MONDO:0008843
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
annotated property: hasDbXref
annotated target: MeSH:C536178
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
annotated property: hasDbXref
annotated target: OMIM:209010
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
annotated property: hasDbXref
annotated target: UMLS:C2931125
manual_assertion: E (Exact mapping: the two concepts are equivalent)

coiled-coil and C2 domain containing 1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_88616
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.12
alternative term: Aki-1
alternative term: Akt Kinase-Interacting Protein 1
alternative term: FLJ20241
alternative term: Five prime repressor element under dual repression-binding protein 1
alternative term: Freud-1
alternative term: Lgd2
alternative term: MRT3
alternative term: TAPE
alternative term: TBK1-associated protein in endolysosomes
alternative term: lethal (2) giant discs homolog 2
alternative term: mental retardation, nonsyndromic, autosomal recessive, 3
has db xref: ClinVar:CC2D1A
has db xref: Ensembl:ENSG00000132024
has db xref: Genatlas:CC2D1A
has db xref: HGNC:30237
has db xref: OMIM:610055
has db xref: SwissProt:Q6P1N0
symbol: CC2D1A

coiled-coil domain containing 6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 146
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q21.2
alternative term: DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1
alternative term: H4
alternative term: PTC
alternative term: PTC1
alternative term: TPC
alternative term: thyroid papillary carcinoma
has db xref: ClinVar:CCDC6
has db xref: Ensembl:ENSG00000108091
has db xref: Genatlas:CCDC6
has db xref: HGNC:18782
has db xref: OMIM:601985
has db xref: SwissProt:Q16204
symbol: CCDC6

CCM2 scaffold protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_221061
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7p13
alternative term: MGC4607
alternative term: OSM
alternative term: malcavernin
alternative term: osmosensing scaffold for MEKK3
has db xref: ClinVar:CCM2
has db xref: Ensembl:ENSG00000136280
has db xref: Genatlas:CCM2
has db xref: HGNC:21708
has db xref: OMIM:607929
has db xref: SwissProt:Q9BSQ5
symbol: CCM2

cyclin D1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_52416
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_29073
subclass of: Restriction
  on property: modifying germline mutation in
  some values from: Orphanet 892
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_67038
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.3
alternative term: B-cell CLL/lymphoma 1
alternative term: G1/S-specific cyclin D1
alternative term: U21B31
alternative term: parathyroid adenomatosis 1
has db xref: ClinVar:CCND1
has db xref: Ensembl:ENSG00000110092
has db xref: Genatlas:CCND1
has db xref: HGNC:1582
has db xref: OMIM:168461
has db xref: Reactome:P24385
has db xref: SwissProt:P24385
symbol: CCND1

chaperonin containing TCP1 subunit 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_139578
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5p15.2
alternative term: CCT-epsilon
alternative term: CCTE
alternative term: KIAA0098
has db xref: ClinVar:CCT5
has db xref: Ensembl:ENSG00000150753
has db xref: Genatlas:CCT5
has db xref: HGNC:1618
has db xref: OMIM:610150
has db xref: Reactome:P48643
has db xref: SwissProt:P48643
symbol: CCT5

CD19 molecule
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_696881
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p11.2
has db xref: ClinVar:CD19
has db xref: Ensembl:ENSG00000177455
has db xref: Genatlas:CD19
has db xref: HGNC:1633
has db xref: IUPHAR:2764
has db xref: OMIM:107265
has db xref: Reactome:P15391
has db xref: SwissProt:P15391
symbol: CD19

CD40 molecule
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Hyper-IgM syndrome type 3
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q13.12
alternative term: Bp50
alternative term: p50
has db xref: ClinVar:CD40
has db xref: Ensembl:ENSG00000101017
has db xref: Genatlas:CD40
has db xref: HGNC:11919
has db xref: IUPHAR:1874
has db xref: OMIM:109535
has db xref: Reactome:P25942
has db xref: SwissProt:P25942
symbol: CD40

CD40 ligand
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: X-linked hyper-IgM syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq26.3
alternative term: CD154
alternative term: CD40 antigen ligand
alternative term: CD40-L
alternative term: CD40L
alternative term: T-B cell-activating molecule
alternative term: T-BAM
alternative term: TNF-related activation protein
alternative term: TRAP
alternative term: gp39
alternative term: hCD40L
alternative term: hyper-IgM syndrome
alternative term: tumor necrosis factor (ligand) superfamily member 5
has db xref: ClinVar:CD40LG
has db xref: Ensembl:ENSG00000102245
has db xref: Genatlas:CD40LG
has db xref: HGNC:11935
has db xref: OMIM:300386
has db xref: Reactome:P29965
has db xref: SwissProt:P29965
symbol: CD40LG

CD46 molecule
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_544472
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_244242
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q32.2
alternative term: MGC26544
alternative term: TLX
alternative term: TRA2.10
alternative term: trophoblast-lymphocyte cross-reactive antigen
has db xref: ClinVar:CD46
has db xref: Ensembl:ENSG00000117335
has db xref: Genatlas:CD46
has db xref: HGNC:6953
has db xref: OMIM:120920
has db xref: Reactome:P15529
has db xref: SwissProt:P15529
symbol: CD46

codanin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98869
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q15.2
alternative term: CDA-I
alternative term: CDAI
has db xref: ClinVar:CDAN1
has db xref: Ensembl:ENSG00000140326
has db xref: Genatlas:CDAN1
has db xref: HGNC:1713
has db xref: OMIM:607465
has db xref: Reactome:Q8IWY9
has db xref: SwissProt:Q8IWY9
symbol: CDAN1

cell division cycle 73
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99879
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 143
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_99880
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q31.2
alternative term: FIHP
alternative term: Paf1/RNA polymerase II complex component
alternative term: parafibromin
has db xref: ClinVar:CDC73
has db xref: Ensembl:ENSG00000134371
has db xref: Genatlas:CDC73
has db xref: HGNC:16783
has db xref: OMIM:607393
has db xref: Reactome:Q6P1J9
has db xref: SwissProt:Q6P1J9
symbol: CDC73

cadherin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_26106
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1331
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_199306
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_227535
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 1997
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q22.1
alternative term: CD324
alternative term: E-Cadherin
alternative term: uvomorulin
has db xref: ClinVar:CDH1
has db xref: Ensembl:ENSG00000039068
has db xref: Genatlas:CDH1
has db xref: HGNC:1748
has db xref: OMIM:192090
has db xref: Reactome:P12830
has db xref: SwissProt:P12830
symbol: CDH1

cadherin related 23
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90636
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 2965
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_314777
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_91347
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_96253
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_231169
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q22.1
alternative term: CDHR23
alternative term: cadherin-related family member 23
has db xref: ClinVar:CDH23
has db xref: Ensembl:ENSG00000107736
has db xref: Genatlas:CDH23
has db xref: HGNC:13733
has db xref: OMIM:605516
has db xref: SwissProt:Q9H251
symbol: CDH23

cadherin 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1573
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1897
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q22.1
alternative term: CDHP
alternative term: P-cadherin
alternative term: PCAD
has db xref: ClinVar:CDH3
has db xref: Ensembl:ENSG00000062038
has db xref: Genatlas:CDH3
has db xref: HGNC:1762
has db xref: OMIM:114021
has db xref: Reactome:P22223
has db xref: SwissProt:P22223
symbol: CDH3

cyclin dependent kinase 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 618
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_99970
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_99971
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q14.1
alternative term: PSK-J3
has db xref: ClinVar:CDK4
has db xref: Ensembl:ENSG00000135446
has db xref: Genatlas:CDK4
has db xref: HGNC:1773
has db xref: IUPHAR:1976
has db xref: OMIM:123829
has db xref: Reactome:P11802
has db xref: SwissProt:P11802
symbol: CDK4

CDK5 regulatory subunit associated protein 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2512
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q33.2
alternative term: C48
alternative term: CEP215
alternative term: FLJ10867
alternative term: centrosomin
has db xref: ClinVar:CDK5RAP2
has db xref: Ensembl:ENSG00000136861
has db xref: Genatlas:CDK5RAP2
has db xref: HGNC:18672
has db xref: OMIM:608201
has db xref: Reactome:Q96SN8
has db xref: SwissProt:Q96SN8
symbol: CDK5RAP2

cyclin dependent kinase like 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1934
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3095
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_505652
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_697160
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.13
alternative term: CFAP247
alternative term: EIEE2
has db xref: ClinVar:CDKL5
has db xref: Ensembl:ENSG00000008086
has db xref: Genatlas:CDKL5
has db xref: HGNC:11411
has db xref: IUPHAR:1986
has db xref: OMIM:300203
has db xref: Reactome:O76039
has db xref: SwissProt:O76039
symbol: CDKL5

Atkin-Flaitz syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611327
alternative term: X-linked intellectual disability, Atkin type
definition: A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0010323
has db xref: MeSH:C538195
has db xref: OMIM:300431
has db xref: UMLS:C0796206
has_inheritance: X-linked dominant
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 14.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1193
notation: ORPHA:1193

Axiom
annotated source: Atkin-Flaitz syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Atkin-Flaitz syndrome
annotated property: hasDbXref
annotated target: MONDO:0010323
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atkin-Flaitz syndrome
annotated property: hasDbXref
annotated target: MeSH:C538195
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atkin-Flaitz syndrome
annotated property: hasDbXref
annotated target: OMIM:300431
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Atkin-Flaitz syndrome
annotated property: hasDbXref
annotated target: UMLS:C0796206
manual_assertion: E (Exact mapping: the two concepts are equivalent)

cyclin dependent kinase inhibitor 1C
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_85173
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_231120
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_397590
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_436144
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.4
alternative term: KIP2
alternative term: P57
has db xref: ClinVar:CDKN1C
has db xref: Ensembl:ENSG00000129757
has db xref: Genatlas:CDKN1C
has db xref: HGNC:1786
has db xref: OMIM:600856
has db xref: Reactome:P49918
has db xref: SwissProt:P49918
symbol: CDKN1C

cyclin dependent kinase inhibitor 2A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_404560
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet 1501
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_99861
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1333
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 618
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_252206
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 524
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet_585909
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9p21.3
alternative term: ARF
alternative term: CAI2
alternative term: CDK4I
alternative term: CDKN2A/ARF Intron 2 lncRNA
alternative term: CMM2
alternative term: INK4
alternative term: INK4a
alternative term: MTS1
alternative term: P16-INK4A
alternative term: cyclin-dependent kinase 4 inhibitor A
alternative term: inhibitor of cdk4 A
alternative term: multiple tumour suppressor 1
alternative term: p14
alternative term: p14 alternate open reading frame
alternative term: p14ARF
alternative term: p16
alternative term: p16INK4a
alternative term: p19
alternative term: p19 alternate open reading frame
alternative term: p19Arf
has db xref: ClinVar:CDKN2A
has db xref: Ensembl:ENSG00000147889
has db xref: Genatlas:CDKN2A
has db xref: HGNC:1787
has db xref: OMIM:600160
has db xref: Reactome:P42771
has db xref: SwissProt:P42771
symbol: CDKN2A

corneodesmosin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_263553
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90368
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p21.33
alternative term: D6S586E
has db xref: ClinVar:CDSN
has db xref: Ensembl:ENSG00000204539
has db xref: Genatlas:CDSN
has db xref: HGNC:1802
has db xref: OMIM:602593
has db xref: Reactome:Q15517
has db xref: SwissProt:Q15517
symbol: CDSN

carboxyl ester lipase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 552
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.13
alternative term: BSSL
alternative term: MODY8
alternative term: bile salt-stimulated lipase
has db xref: ClinVar:CEL
has db xref: Ensembl:ENSG00000170835
has db xref: Genatlas:CEL
has db xref: HGNC:1848
has db xref: IUPHAR:2872
has db xref: OMIM:114840
has db xref: Reactome:P19835
has db xref: SwissProt:P19835
symbol: CEL

centrosome assembly and centriole elongation protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2512
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 808
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q12.12-q12.13
alternative term: BM032
alternative term: CPAP
alternative term: LAG-3-associated protein
alternative term: LAP
alternative term: LIP1
alternative term: SASS4
alternative term: SCKL4
alternative term: Sas-4
alternative term: Seckel syndrome 4
alternative term: Spindle assembly abnormal 4
alternative term: centrosomal P4.1-associated protein
has db xref: ClinVar:CENPJ
has db xref: Ensembl:ENSG00000151849
has db xref: Genatlas:CENPJ
has db xref: HGNC:17272
has db xref: OMIM:609279
has db xref: Reactome:Q9HC77
has db xref: SwissProt:Q9HC77
symbol: CPAP

centrosomal protein 290
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Bardet-Biedl syndrome
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2318
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3156
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 564
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 65
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q21.32
alternative term: 3H11Ag
alternative term: BBS14
alternative term: Bardet-Biedl syndrome 14
alternative term: CT87
alternative term: FLJ13615
alternative term: JBTS5
alternative term: Joubert syndrome 5
alternative term: KIAA0373
alternative term: LCA10
alternative term: MKS4
alternative term: Meckel syndrome, type 4
alternative term: NPHP6
alternative term: POC3
alternative term: POC3 centriolar protein homolog (Chlamydomonas)
alternative term: SLSN6
alternative term: cancer/testis antigen 87
alternative term: nephrocystin-6
alternative term: rd16
has db xref: ClinVar:CEP290
has db xref: Ensembl:ENSG00000198707
has db xref: Genatlas:CEP290
has db xref: HGNC:29021
has db xref: OMIM:610142
has db xref: Reactome:O15078
has db xref: SwissProt:O15078
symbol: CEP290

CERK like autophagy regulator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q31.3
has db xref: ClinVar:CERKL
has db xref: Ensembl:ENSG00000188452
has db xref: Genatlas:CERKL
has db xref: HGNC:21699
has db xref: OMIM:608381
has db xref: SwissProt:Q49MI3
symbol: CERKL

cholesteryl ester transfer protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_181428
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q13
alternative term: BPI fold containing family F
alternative term: BPIFF
has db xref: ClinVar:CETP
has db xref: Ensembl:ENSG00000087237
has db xref: Genatlas:CETP
has db xref: HGNC:1869
has db xref: IUPHAR:3248
has db xref: OMIM:118470
has db xref: Reactome:P11597
has db xref: SwissProt:P11597
symbol: CETP

cryptic, EGF-CFC family member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_157769
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_216718
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_216729
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_244283
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_99042
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q21.1
alternative term: CRYPTIC
has db xref: ClinVar:CFC1
has db xref: Ensembl:ENSG00000136698
has db xref: Genatlas:CFC1
has db xref: HGNC:18292
has db xref: OMIM:605194
has db xref: Reactome:P0CG37
has db xref: SwissProt:P0CG37
symbol: CFC1

complement factor H
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_200421
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_329903
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_544472
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75376
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93571
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_244242
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet_244275
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q31.3
alternative term: ARMD4
alternative term: ARMS1
alternative term: FHL1
alternative term: H factor 2 (complement)
alternative term: HUS
alternative term: age-related maculopathy susceptibility 1
alternative term: beta-1H
has db xref: ClinVar:CFH
has db xref: Ensembl:ENSG00000000971
has db xref: Genatlas:CFH
has db xref: HGNC:4883
has db xref: OMIM:134370
has db xref: Reactome:P08603
has db xref: SwissProt:P08603
symbol: CFH

complement factor I
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_200418
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_544472
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75376
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_244242
subclass of: Restriction
  on property: biomarker tested in
  some values from: Orphanet_244275
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q25
alternative term: C3b-INA
alternative term: C3b-inactivator
alternative term: C3bINA
alternative term: FI
alternative term: KAF
alternative term: Konglutinogen-activating factor
has db xref: ClinVar:CFI
has db xref: Ensembl:ENSG00000205403
has db xref: Genatlas:CFI
has db xref: HGNC:5394
has db xref: OMIM:217030
has db xref: Reactome:P05156
has db xref: SwissProt:P05156
symbol: CFI

cofilin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171436
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q13.1
alternative term: NEM7
alternative term: nemaline myopathy type 7
has db xref: ClinVar:CFL2
has db xref: Ensembl:ENSG00000165410
has db xref: Genatlas:CFL2
has db xref: HGNC:1875
has db xref: OMIM:601443
has db xref: Reactome:Q9Y281
has db xref: SwissProt:Q9Y281
symbol: CFL2

complement factor properdin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2966
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.23
has db xref: ClinVar:CFP
has db xref: Ensembl:ENSG00000126759
has db xref: Genatlas:CFP
has db xref: HGNC:8864
has db xref: OMIM:300383
has db xref: Reactome:P27918
has db xref: SwissProt:P27918
symbol: CFP

CF transmembrane conductance regulator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 48
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_399805
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_498359
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_60033
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_700124
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 586
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q31.2
alternative term: ABC35
alternative term: ATP-binding cassette sub-family C, member 7
alternative term: CFTR/MRP
alternative term: MRP7
alternative term: TNR-CFTR
alternative term: dJ760C5.1
has db xref: ClinVar:CFTR
has db xref: Ensembl:ENSG00000001626
has db xref: Genatlas:CFTR
has db xref: HGNC:1884
has db xref: IUPHAR:707
has db xref: OMIM:602421
has db xref: Reactome:P13569
has db xref: SwissProt:P13569
symbol: CFTR

choline O-acetyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98914
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q11.23
alternative term: CHOACTase
has db xref: ClinVar:CHAT
has db xref: Ensembl:ENSG00000070748
has db xref: Genatlas:CHAT
has db xref: HGNC:1912
has db xref: IUPHAR:2480
has db xref: OMIM:118490
has db xref: Reactome:P28329
has db xref: SwissProt:P28329
symbol: CHAT

chromodomain helicase DNA binding protein 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 138
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_39041
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 432
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 478
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q12.2
alternative term: FLJ20357
alternative term: FLJ20361
alternative term: KIAA1416
has db xref: ClinVar:CHD7
has db xref: Ensembl:ENSG00000171316
has db xref: Genatlas:CHD7
has db xref: HGNC:20626
has db xref: OMIM:608892
has db xref: SwissProt:Q9P2D1
symbol: CHD7

checkpoint kinase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_440437
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1331
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 145
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 524
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 668
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q12.1
alternative term: CDS1
alternative term: CHK2
alternative term: HuCds1
alternative term: PP1425
alternative term: bA444G7
has db xref: ClinVar:CHEK2
has db xref: Ensembl:ENSG00000183765
has db xref: Genatlas:CHEK2
has db xref: HGNC:16627
has db xref: IUPHAR:1988
has db xref: OMIM:604373
has db xref: Reactome:O96017
has db xref: SwissProt:O96017
symbol: CHEK2

TMEM70-related mitochondrial encephalo-cardio-myopathy
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309136
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_611314
alternative term: Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
alternative term: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
alternative term: Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
definition: Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
definition citation: Orphanet
has db xref: ICD-10:G71.3
has db xref: ICD-11:5C53.2Y
has db xref: MONDO:0013546
has db xref: OMIM:614052
has db xref: UMLS:C4273660
has_inheritance: Autosomal recessive
has_age_of_onset: Infancy
has_age_of_onset: Neonatal
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1194
notation: ORPHA:1194

Axiom
annotated source: TMEM70-related mitochondrial encephalo-cardio-myopathy
annotated property: hasDbXref
annotated target: ICD-10:G71.3
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: TMEM70-related mitochondrial encephalo-cardio-myopathy
annotated property: hasDbXref
annotated target: ICD-11:5C53.2Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: TMEM70-related mitochondrial encephalo-cardio-myopathy
annotated property: hasDbXref
annotated target: MONDO:0013546
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: TMEM70-related mitochondrial encephalo-cardio-myopathy
annotated property: hasDbXref
annotated target: OMIM:614052
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: TMEM70-related mitochondrial encephalo-cardio-myopathy
annotated property: hasDbXref
annotated target: UMLS:C4273660
manual_assertion: E (Exact mapping: the two concepts are equivalent)

CHM Rab escort protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 180
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq21.2
alternative term: REP-1
alternative term: Rab escort protein 1
alternative term: Rab proteins geranylgeranyltransferase component A 1
has db xref: ClinVar:CHM
has db xref: Ensembl:ENSG00000188419
has db xref: Genatlas:CHM
has db xref: HGNC:1940
has db xref: OMIM:300390
has db xref: Reactome:P24386
has db xref: SwissProt:P24386
symbol: CHM

charged multivesicular body protein 2B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 803
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Semantic dementia
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Progressive non-fluent aphasia
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_275864
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p11.2
alternative term: CHMP2.5
alternative term: DKFZP564O123
alternative term: VPS2 homolog B (S. cerevisiae)
alternative term: VPS2B
has db xref: ClinVar:CHMP2B
has db xref: Ensembl:ENSG00000083937
has db xref: Genatlas:CHMP2B
has db xref: HGNC:24537
has db xref: OMIM:609512
has db xref: Reactome:Q9UQN3
has db xref: SwissProt:Q9UQN3
symbol: CHMP2B

cholinergic receptor nicotinic alpha 1 subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33108
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q31.1
alternative term: acetylcholine receptor, nicotinic, alpha 1 (muscle)
has db xref: ClinVar:CHRNA1
has db xref: Ensembl:ENSG00000138435
has db xref: Genatlas:CHRNA1
has db xref: HGNC:1955
has db xref: IUPHAR:462
has db xref: OMIM:100690
has db xref: Reactome:P02708
has db xref: SwissProt:P02708
symbol: CHRNA1

cholinergic receptor nicotinic alpha 4 subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98784
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q13.33
alternative term: BFNC
alternative term: acetylcholine receptor, nicotinic, alpha 4 (neuronal)
has db xref: ClinVar:CHRNA4
has db xref: Ensembl:ENSG00000101204
has db xref: Genatlas:CHRNA4
has db xref: HGNC:1958
has db xref: IUPHAR:465
has db xref: OMIM:118504
has db xref: Reactome:P43681
has db xref: SwissProt:P43681
symbol: CHRNA4

cholinergic receptor nicotinic beta 1 subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.1
alternative term: acetylcholine receptor, nicotinic, beta 1 (muscle)
has db xref: ClinVar:CHRNB1
has db xref: Ensembl:ENSG00000170175
has db xref: Genatlas:CHRNB1
has db xref: HGNC:1961
has db xref: IUPHAR:471
has db xref: OMIM:100710
has db xref: SwissProt:P11230
symbol: CHRNB1

cholinergic receptor nicotinic delta subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33108
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q37.1
alternative term: acetylcholine receptor, nicotinic, delta (muscle)
has db xref: ClinVar:CHRND
has db xref: Ensembl:ENSG00000135902
has db xref: Genatlas:CHRND
has db xref: HGNC:1965
has db xref: IUPHAR:476
has db xref: OMIM:100720
has db xref: Reactome:Q07001
has db xref: SwissProt:Q07001
symbol: CHRND

cholinergic receptor nicotinic epsilon subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_98913
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.2
alternative term: ACHRE
alternative term: acetylcholine receptor, nicotinic, epsilon (muscle)
has db xref: ClinVar:CHRNE
has db xref: Ensembl:ENSG00000108556
has db xref: Genatlas:CHRNE
has db xref: HGNC:1966
has db xref: IUPHAR:477
has db xref: OMIM:100725
has db xref: Reactome:Q04844
has db xref: SwissProt:Q04844
symbol: CHRNE

cholinergic receptor nicotinic gamma subunit
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2990
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_33108
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q37.1
alternative term: acetylcholine receptor, nicotinic, gamma (muscle)
has db xref: ClinVar:CHRNG
has db xref: Ensembl:ENSG00000196811
has db xref: Genatlas:CHRNG
has db xref: HGNC:1967
has db xref: IUPHAR:475
has db xref: OMIM:100730
has db xref: Reactome:P07510
has db xref: SwissProt:P07510
symbol: CHRNG

carbohydrate sulfotransferase 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_263463
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q22.1
alternative term: C6ST
alternative term: C6ST1
alternative term: chondroitin 6 sulfotransferase 1
has db xref: ClinVar:CHST3
has db xref: Ensembl:ENSG00000122863
has db xref: Genatlas:CHST3
has db xref: HGNC:1971
has db xref: OMIM:603799
has db xref: Reactome:Q7LGC8
has db xref: SwissProt:Q7LGC8
symbol: CHST3

carbohydrate sulfotransferase 6
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98969
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q23.1
has db xref: ClinVar:CHST6
has db xref: Ensembl:ENSG00000183196
has db xref: Genatlas:CHST6
has db xref: HGNC:6938
has db xref: OMIM:605294
has db xref: Reactome:Q9GZX3
has db xref: SwissProt:Q9GZX3
symbol: CHST6

class II major histocompatibility complex transactivator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 572
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.13
alternative term: C2TA
alternative term: NLR family, acid domain containing
alternative term: NLRA
alternative term: nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
has db xref: ClinVar:CIITA
has db xref: Ensembl:ENSG00000179583
has db xref: Genatlas:CIITA
has db xref: HGNC:7067
has db xref: IUPHAR:1767
has db xref: OMIM:600005
has db xref: Reactome:P33076
has db xref: SwissProt:P33076
symbol: CIITA

chloride voltage-gated channel 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 614
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q34
alternative term: CLC1
alternative term: ClC-1
alternative term: Thomsen disease, autosomal dominant
has db xref: ClinVar:CLCN1
has db xref: Ensembl:ENSG00000188037
has db xref: Genatlas:CLCN1
has db xref: HGNC:2019
has db xref: IUPHAR:698
has db xref: OMIM:118425
has db xref: Reactome:P35523
has db xref: SwissProt:P35523
symbol: CLCN1

chloride voltage-gated channel 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_93622
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.23
alternative term: CLC5
alternative term: ClC-5
alternative term: DENTS
alternative term: Dent disease
alternative term: XLRH
alternative term: XRN
alternative term: hCIC-K2
alternative term: hClC-K2
has db xref: ClinVar:CLCN5
has db xref: Ensembl:ENSG00000171365
has db xref: Genatlas:CLCN5
has db xref: HGNC:2023
has db xref: IUPHAR:704
has db xref: OMIM:300008
has db xref: Reactome:P51795
has db xref: SwissProt:P51795
symbol: CLCN5

chloride voltage-gated channel 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_210110
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 53
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 667
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.3
alternative term: CLC-7
alternative term: CLC7
alternative term: ClC-7
alternative term: OPTA2
alternative term: PPP1R63
alternative term: protein phosphatase 1, regulatory subunit 63
has db xref: ClinVar:CLCN7
has db xref: Ensembl:ENSG00000103249
has db xref: Genatlas:CLCN7
has db xref: HGNC:2025
has db xref: IUPHAR:706
has db xref: OMIM:602727
has db xref: Reactome:P51798
has db xref: SwissProt:P51798
symbol: CLCN7

chloride voltage-gated channel Kb
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93605
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 358
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_89938
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.13
alternative term: CLCKB
alternative term: Chloride channel protein ClC-Kb
alternative term: ClC-K2
alternative term: ClC-Kb
alternative term: hClC-Kb
has db xref: ClinVar:CLCNKB
has db xref: Ensembl:ENSG00000184908
has db xref: Genatlas:CLCNKB
has db xref: HGNC:2027
has db xref: IUPHAR:701
has db xref: OMIM:602023
has db xref: Reactome:P51801
has db xref: SwissProt:P51801
symbol: CLCNKB

claudin 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_59303
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q28
alternative term: ILVASC
alternative term: SEMP1
alternative term: senescence-associated epithelial membrane protein 1
has db xref: ClinVar:CLDN1
has db xref: Ensembl:ENSG00000163347
has db xref: Genatlas:CLDN1
has db xref: HGNC:2032
has db xref: OMIM:603718
has db xref: Reactome:O95832
has db xref: SwissProt:O95832
symbol: CLDN1

solute carrier family 37 member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79259
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.3
alternative term: G6PT
alternative term: GSD1b
alternative term: GSD1c
alternative term: GSD1d
alternative term: Glucose-6-phosphate exchanger SLC37A4
alternative term: SPX4
alternative term: glucose-6-phosphatase transporter
alternative term: sugar-phosphate exchange protein 4
has db xref: ClinVar:SLC37A4
has db xref: Ensembl:ENSG00000137700
has db xref: Genatlas:SLC37A4
has db xref: HGNC:4061
has db xref: IUPHAR:1168
has db xref: OMIM:602671
has db xref: Reactome:O43826
has db xref: SwissProt:O43826
symbol: SLC37A4

solute carrier family 39 member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 37
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q24.3
alternative term: AWMS2
alternative term: ZIP-4
alternative term: ZIP4
alternative term: ZRT/IRT-like protein 4
alternative term: Zinc transporter ZIP4
alternative term: zinc transporter 4
has db xref: ClinVar:SLC39A4
has db xref: Ensembl:ENSG00000147804
has db xref: Genatlas:SLC39A4
has db xref: HGNC:17129
has db xref: IUPHAR:1183
has db xref: OMIM:607059
has db xref: Reactome:Q6P5W5
has db xref: SwissProt:Q6P5W5
symbol: SLC39A4

solute carrier family 40 member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_648562
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_647834
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q32.2
alternative term: FPN
alternative term: FPN1
alternative term: HFE4
alternative term: IREG1
alternative term: MTP1
alternative term: SLC40 iron transporter
alternative term: ferroportin 1
alternative term: iron regulated gene 1
has db xref: ClinVar:SLC40A1
has db xref: Ensembl:ENSG00000138449
has db xref: Genatlas:SLC40A1
has db xref: HGNC:10909
has db xref: IUPHAR:1194
has db xref: OMIM:604653
has db xref: Reactome:Q9NP59
has db xref: SwissProt:Q9NP59
symbol: SLC40A1

Congenital atransferrinemia
type: Class
subclass of: Orphanet_377788
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_309842
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_98360
alternative term: Congenital hypotransferrinemia
definition: Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
definition citation: Orphanet
has db xref: ICD-10:E88.0
has db xref: ICD-11:5D0Y
has db xref: MONDO:0008846
has db xref: MeSH:C538259
has db xref: MedDRA:10083911
has db xref: OMIM:209300
has db xref: UMLS:C0521802
has_inheritance: Autosomal recessive
has_age_of_onset: Childhood
has_age_of_onset: Infancy
present_in: Worldwide AND has_cases/families_value : 16.0 (Case(s))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1195
notation: ORPHA:1195

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: ICD-10:E88.0
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: ICD-11:5D0Y
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation).

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: MONDO:0008846
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: MeSH:C538259
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: MedDRA:10083911
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: OMIM:209300
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Congenital atransferrinemia
annotated property: hasDbXref
annotated target: UMLS:C0521802
manual_assertion: E (Exact mapping: the two concepts are equivalent)

adenosine deaminase RNA specific
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 41
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 51
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_694356
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_225154
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q21.3
alternative term: ADAR1
alternative term: DRADA
alternative term: Double-stranded RNA-specific adenosine deaminase
has db xref: ClinVar:ADAR
has db xref: Ensembl:ENSG00000160710
has db xref: Genatlas:ADAR
has db xref: HGNC:225
has db xref: OMIM:146920
has db xref: Reactome:P55265
has db xref: SwissProt:P55265
symbol: ADAR

adenylosuccinate lyase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 46
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.1
has db xref: ClinVar:ADSL
has db xref: Ensembl:ENSG00000239900
has db xref: Genatlas:ADSL
has db xref: HGNC:291
has db xref: OMIM:608222
has db xref: Reactome:P30566
has db xref: SwissProt:P30566
symbol: ADSL

ALF transcription elongation factor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: FRAXE intellectual disability
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq28
alternative term: FRAXE
has db xref: ClinVar:AFF2
has db xref: Ensembl:ENSG00000155966
has db xref: Genatlas:AFF2
has db xref: HGNC:3776
has db xref: OMIM:300806
has db xref: SwissProt:P51816
symbol: AFF2

aspartylglucosaminidase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 93
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q34.3
alternative term: ASRG
alternative term: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
alternative term: glycosylasparaginase
has db xref: ClinVar:AGA
has db xref: Ensembl:ENSG00000038002
has db xref: Genatlas:AGA
has db xref: HGNC:318
has db xref: OMIM:613228
has db xref: Reactome:P20933
has db xref: SwissProt:P20933
symbol: AGA

angiogenic factor with G-patch and FHA domains 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_90308
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q13.3
alternative term: FLJ10283
alternative term: GPATC7
alternative term: GPATCH7
alternative term: HSU84971
alternative term: VG5Q
has db xref: ClinVar:AGGF1
has db xref: Ensembl:ENSG00000164252
has db xref: Genatlas:AGGF1
has db xref: HGNC:24684
has db xref: OMIM:608464
has db xref: Reactome:Q8N302
has db xref: SwissProt:Q8N302
symbol: AGGF1

amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 366
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p21.2
alternative term: GDE
alternative term: glycogen debranching enzyme
alternative term: glycogen storage disease type III
has db xref: ClinVar:AGL
has db xref: Ensembl:ENSG00000162688
has db xref: Genatlas:AGL
has db xref: HGNC:321
has db xref: OMIM:610860
has db xref: Reactome:P35573
has db xref: SwissProt:P35573
symbol: AGL

1-acylglycerol-3-phosphate O-acyltransferase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_696189
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.3
alternative term: 1-acyl-sn-glycerol-3-phosphate acyltransferase beta
alternative term: LPAAT-beta
alternative term: LPLAT2
alternative term: lysophosphatidic acid acyltransferase, beta
alternative term: lysophosphatidic acid acyltransferase-beta
alternative term: lysophospholipid acyltransferase 2
has db xref: ClinVar:AGPAT2
has db xref: Ensembl:ENSG00000169692
has db xref: Genatlas:AGPAT2
has db xref: HGNC:325
has db xref: OMIM:603100
has db xref: Reactome:O15120
has db xref: SwissProt:O15120
symbol: AGPAT2

alkylglycerone phosphate synthase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_309803
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q31.2
alternative term: ADAP-S
alternative term: ADAS
alternative term: ADHAPS
alternative term: ADPS
alternative term: ALDHPSY
alternative term: Alkyldihydroxyacetonephosphate synthase, peroxisomal
has db xref: ClinVar:AGPS
has db xref: Ensembl:ENSG00000018510
has db xref: Genatlas:AGPS
has db xref: HGNC:327
has db xref: OMIM:603051
has db xref: Reactome:O00116
has db xref: SwissProt:O00116
symbol: AGPS

angiotensinogen
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_97369
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q42.2
alternative term: alpha-1 antiproteinase, antitrypsin
has db xref: ClinVar:AGT
has db xref: Ensembl:ENSG00000135744
has db xref: Genatlas:AGT
has db xref: HGNC:333
has db xref: OMIM:106150
has db xref: Reactome:P01019
has db xref: SwissProt:P01019
symbol: AGT

alanine--glyoxylate aminotransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93598
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q37.3
alternative term: AGT
alternative term: AGT1
alternative term: AGXT1
alternative term: L-alanine: glyoxylate aminotransferase 1
alternative term: PH1
alternative term: SPT
alternative term: Ser-PyrAT
alternative term: TLH6
alternative term: glycolicaciduria
alternative term: oxalosis I
alternative term: primary hyperoxaluria type 1
alternative term: serine:pyruvate aminotransferase
has db xref: ClinVar:AGXT
has db xref: Ensembl:ENSG00000172482
has db xref: Genatlas:AGXT
has db xref: HGNC:341
has db xref: OMIM:604285
has db xref: Reactome:P21549
has db xref: SwissProt:P21549
symbol: AGXT

adenosylhomocysteinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_88618
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q11.22
alternative term: AdoHcyase
alternative term: SAHH
has db xref: ClinVar:AHCY
has db xref: Ensembl:ENSG00000101444
has db xref: Genatlas:AHCY
has db xref: HGNC:343
has db xref: IUPHAR:1233
has db xref: OMIM:180960
has db xref: Reactome:P23526
has db xref: SwissProt:P23526
symbol: AHCY

Abelson helper integration site 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_220493
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 475
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 791
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q23.3
alternative term: FLJ20069
alternative term: JBTS3
alternative term: Jouberin
alternative term: ORF1
has db xref: ClinVar:AHI1
has db xref: Ensembl:ENSG00000135541
has db xref: Genatlas:AHI1
has db xref: HGNC:21575
has db xref: OMIM:608894
has db xref: Reactome:Q8N157
has db xref: SwissProt:Q8N157
symbol: AHI1

activation induced cytidine deaminase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Hyper-IgM syndrome type 2
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12p13.31
alternative term: AID
alternative term: ARP2
alternative term: CDA2
alternative term: HIGM2
has db xref: ClinVar:AICDA
has db xref: Ensembl:ENSG00000111732
has db xref: Genatlas:AICDA
has db xref: HGNC:13203
has db xref: OMIM:605257
has db xref: Reactome:Q9GZX7
has db xref: SwissProt:Q9GZX7
symbol: AICDA

AIP like 1 HSP90 co-chaperone
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 65
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 1872
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.2
has db xref: ClinVar:AIPL1
has db xref: Ensembl:ENSG00000129221
has db xref: Genatlas:AIPL1
has db xref: HGNC:359
has db xref: OMIM:604392
has db xref: Reactome:Q9NZN9
has db xref: SwissProt:Q9NZN9
symbol: AIPL1

autoimmune regulator
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_189466
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 3453
subclass of: Restriction
  on property: has_chromosomal location
  has value: 21q22.3
alternative term: APS1
alternative term: PGA1
alternative term: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
has db xref: ClinVar:AIRE
has db xref: Ensembl:ENSG00000160224
has db xref: Genatlas:AIRE
has db xref: HGNC:360
has db xref: OMIM:607358
has db xref: Reactome:O43918
has db xref: SwissProt:O43918
symbol: AIRE

adenylate kinase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_86817
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.11
alternative term: ADK
alternative term: Adk1
has db xref: ClinVar:AK1
has db xref: Ensembl:ENSG00000106992
has db xref: Genatlas:AK1
has db xref: HGNC:361
has db xref: OMIM:103000
has db xref: Reactome:P00568
has db xref: SwissProt:P00568
symbol: AK1

aminolevulinate dehydratase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Porphyria due to ALA dehydratase deficiency
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q32
alternative term: ALADH
alternative term: PBGS
alternative term: porphobilinogen synthase
has db xref: ClinVar:ALAD
has db xref: Ensembl:ENSG00000148218
has db xref: Genatlas:ALAD
has db xref: HGNC:395
has db xref: OMIM:125270
has db xref: Reactome:P13716
has db xref: SwissProt:P13716
symbol: ALAD

5'-aminolevulinate synthase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_75563
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_443197
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.21
alternative term: ALAS-E
alternative term: erythroid-specific delta-aminolevulinate synthase
alternative term: sideroblastic/hypochromic anemia
has db xref: ClinVar:ALAS2
has db xref: Ensembl:ENSG00000158578
has db xref: Genatlas:ALAS2
has db xref: HGNC:397
has db xref: OMIM:301300
has db xref: Reactome:P22557
has db xref: SwissProt:P22557
symbol: ALAS2

albumin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_86816
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q13.3
has db xref: ClinVar:ALB
has db xref: Ensembl:ENSG00000163631
has db xref: Genatlas:ALB
has db xref: HGNC:399
has db xref: OMIM:103600
has db xref: Reactome:P02768
has db xref: SwissProt:P02768
symbol: ALB

aldehyde dehydrogenase 18 family member A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_35664
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90348
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_447753
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_447757
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_447760
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q24.1
alternative term: P5CS
alternative term: delta-1-pyrroline-5-carboxylate synthase
has db xref: ClinVar:ALDH18A1
has db xref: Ensembl:ENSG00000059573
has db xref: Genatlas:ALDH18A1
has db xref: HGNC:9722
has db xref: OMIM:138250
has db xref: Reactome:P54886
has db xref: SwissProt:P54886
symbol: ALDH18A1

aldehyde dehydrogenase 3 family member A2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 816
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p11.2
alternative term: FALDH
alternative term: fatty aldehyde dehydrogenase
has db xref: ClinVar:ALDH3A2
has db xref: Ensembl:ENSG00000072210
has db xref: Genatlas:ALDH3A2
has db xref: HGNC:403
has db xref: OMIM:609523
has db xref: Reactome:P51648
has db xref: SwissProt:P51648
symbol: ALDH3A2

aldehyde dehydrogenase 4 family member A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79101
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.13
alternative term: Delta-1-pyrroline-5-carboxylate dehydrogenase
alternative term: L-glutamate gamma-semialdehyde dehydrogenase
alternative term: P5CDh
has db xref: ClinVar:ALDH4A1
has db xref: Ensembl:ENSG00000159423
has db xref: Genatlas:ALDH4A1
has db xref: HGNC:406
has db xref: OMIM:606811
has db xref: Reactome:P30038
has db xref: SwissProt:P30038
symbol: ALDH4A1

aldehyde dehydrogenase 5 family member A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 22
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p22.3
alternative term: SSADH
alternative term: SSDH
alternative term: succinate-semialdehyde dehydrogenase
has db xref: ClinVar:ALDH5A1
has db xref: Ensembl:ENSG00000112294
has db xref: Genatlas:ALDH5A1
has db xref: HGNC:408
has db xref: IUPHAR:2466
has db xref: OMIM:610045
has db xref: Reactome:P51649
has db xref: SwissProt:P51649
symbol: ALDH5A1

aldehyde dehydrogenase 7 family member A1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3006
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q23.2
alternative term: 26g turgor protein homolog
alternative term: EPD
alternative term: P6c dehydrogenase
alternative term: PDE
alternative term: alpha-AASA dehydrogenase
alternative term: alpha-aminoadipic semialdehyde dehydrogenase
alternative term: antiquitin 1
alternative term: delta1-piperideine-6-carboxylate dehydrogenease
has db xref: ClinVar:ALDH7A1
has db xref: Ensembl:ENSG00000164904
has db xref: Genatlas:ALDH7A1
has db xref: HGNC:877
has db xref: OMIM:107323
has db xref: Reactome:P49419
has db xref: SwissProt:P49419
symbol: ALDH7A1

aldolase, fructose-bisphosphate A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 57
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p11.2
has db xref: ClinVar:ALDOA
has db xref: Ensembl:ENSG00000149925
has db xref: Genatlas:ALDOA
has db xref: HGNC:414
has db xref: OMIM:103850
has db xref: Reactome:P04075
has db xref: SwissProt:P04075
symbol: ALDOA

aldolase, fructose-bisphosphate B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 469
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q31.1
has db xref: ClinVar:ALDOB
has db xref: Ensembl:ENSG00000136872
has db xref: Genatlas:ALDOB
has db xref: HGNC:417
has db xref: OMIM:612724
has db xref: Reactome:P05062
has db xref: SwissProt:P05062
symbol: ALDOB

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79327
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p13.3
alternative term: CDG1K
alternative term: HMAT1
alternative term: HMT-1
alternative term: Mat-1
has db xref: ClinVar:ALG1
has db xref: Ensembl:ENSG00000033011
has db xref: Genatlas:ALG1
has db xref: HGNC:18294
has db xref: OMIM:605907
has db xref: Reactome:Q9BT22
has db xref: SwissProt:Q9BT22
symbol: ALG1

ALG12 alpha-1,6-mannosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79324
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.33
alternative term: CDG1G
alternative term: ECM39
alternative term: dol-P-Man dependent alpha-1,6-mannosyltransferase
alternative term: dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
has db xref: ClinVar:ALG12
has db xref: Ensembl:ENSG00000182858
has db xref: Genatlas:ALG12
has db xref: HGNC:19358
has db xref: OMIM:607144
has db xref: Reactome:Q9BV10
has db xref: SwissProt:Q9BV10
symbol: ALG12

ALG2 alpha-1,3/1,6-mannosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_353327
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79326
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q22.33
alternative term: CDG1I
alternative term: CDGIi
alternative term: FLJ14511
alternative term: NET38
alternative term: hALPG2
has db xref: ClinVar:ALG2
has db xref: Ensembl:ENSG00000119523
has db xref: Genatlas:ALG2
has db xref: HGNC:23159
has db xref: OMIM:607905
has db xref: Reactome:Q9H553
has db xref: SwissProt:Q9H553
symbol: ALG2

ALG3 alpha-1,3- mannosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79321
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q27.1
alternative term: CDGS4
alternative term: D16Ertd36e
alternative term: NOT56L
alternative term: Not56
alternative term: carbohydrate deficient glycoprotein syndrome type IV
alternative term: dol-P-Man dependent alpha-1,3- mannosyltransferase
alternative term: dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
has db xref: ClinVar:ALG3
has db xref: Ensembl:ENSG00000214160
has db xref: Genatlas:ALG3
has db xref: HGNC:23056
has db xref: OMIM:608750
has db xref: Reactome:Q92685
has db xref: SwissProt:Q92685
symbol: ALG3

ALG6 alpha-1,3-glucosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79320
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p31.3
alternative term: dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
has db xref: ClinVar:ALG6
has db xref: Ensembl:ENSG00000088035
has db xref: Genatlas:ALG6
has db xref: HGNC:23157
has db xref: OMIM:604566
has db xref: Reactome:Q9Y672
has db xref: SwissProt:Q9Y672
symbol: ALG6

ALG8 alpha-1,3-glucosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2924
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79325
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q14.1
alternative term: MGC2840
alternative term: dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
has db xref: ClinVar:ALG8
has db xref: Ensembl:ENSG00000159063
has db xref: Genatlas:ALG8
has db xref: HGNC:23161
has db xref: OMIM:608103
has db xref: Reactome:Q9BVK2
has db xref: SwissProt:Q9BVK2
symbol: ALG8

ALG9 alpha-1,2-mannosyltransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 730
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_79328
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.1
alternative term: dol-P-Man dependent alpha-1,2-mannosyltransferase
alternative term: dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
alternative term: dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
has db xref: ClinVar:ALG9
has db xref: Ensembl:ENSG00000086848
has db xref: Genatlas:ALG9
has db xref: HGNC:15672
has db xref: OMIM:606941
has db xref: Reactome:Q9H6U8
has db xref: SwissProt:Q9H6U8
symbol: ALG9

ALMS1 centrosome and basal body associated protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 64
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p13.1
alternative term: KIAA0328
has db xref: ClinVar:ALMS1
has db xref: Ensembl:ENSG00000116127
has db xref: Genatlas:ALMS1
has db xref: HGNC:428
has db xref: OMIM:606844
has db xref: Reactome:Q8TCU4
has db xref: SwissProt:Q8TCU4
symbol: ALMS1

arachidonate 12-lipoxygenase, 12R type
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_281122
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 313
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79394
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.1
alternative term: 12R-LOX
alternative term: 12R-lipoxygenase
has db xref: ClinVar:ALOX12B
has db xref: Ensembl:ENSG00000179477
has db xref: Genatlas:ALOX12B
has db xref: HGNC:430
has db xref: IUPHAR:1386
has db xref: OMIM:603741
has db xref: Reactome:O75342
has db xref: SwissProt:O75342
symbol: ALOX12B

arachidonate epidermal lipoxygenase 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_281122
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 313
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79394
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17p13.1
alternative term: E-LOX
alternative term: Epidermal lipoxygenase-3
alternative term: eLOX3
alternative term: hydroperoxide isomerase
alternative term: hydroperoxy icosatetraenoate dehydratase
alternative term: hydroperoxy icosatetraenoate isomerase
has db xref: ClinVar:ALOXE3
has db xref: Ensembl:ENSG00000179148
has db xref: Genatlas:ALOXE3
has db xref: HGNC:13743
has db xref: IUPHAR:1390
has db xref: OMIM:607206
has db xref: Reactome:Q9BYJ1
has db xref: SwissProt:Q9BYJ1
symbol: ALOXE3

alkaline phosphatase, biomineralization associated
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247623
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247638
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247651
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247667
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247676
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_247685
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p36.12
alternative term: TNALP
alternative term: TNAP
alternative term: TNSALP
alternative term: tissue non-specific alkaline phosphatase
has db xref: ClinVar:ALPL
has db xref: Ensembl:ENSG00000162551
has db xref: Genatlas:ALPL
has db xref: HGNC:438
has db xref: OMIM:171760
has db xref: Reactome:P05186
has db xref: SwissProt:P05186
symbol: ALPL

alsin Rho guanine nucleotide exchange factor ALS2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_247604
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293168
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_300605
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q33.1
alternative term: alsin
has db xref: ClinVar:ALS2
has db xref: Ensembl:ENSG00000003393
has db xref: Genatlas:ALS2
has db xref: HGNC:443
has db xref: OMIM:606352
has db xref: Reactome:Q96Q42
has db xref: SwissProt:Q96Q42
symbol: ALS2

ALX homeobox 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_228390
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_35093
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_52022
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_60015
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p11.2
alternative term: FPP
alternative term: KIAA1788
alternative term: PFM
has db xref: ClinVar:ALX4
has db xref: Ensembl:ENSG00000052850
has db xref: Genatlas:ALX4
has db xref: HGNC:450
has db xref: OMIM:605420
has db xref: SwissProt:Q9H161
symbol: ALX4

amelogenin X-linked
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Hypomaturation amelogenesis imperfecta
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.2
alternative term: amelogenesis imperfecta 1
has db xref: ClinVar:AMELX
has db xref: Ensembl:ENSG00000125363
has db xref: Genatlas:AMELX
has db xref: HGNC:461
has db xref: OMIM:300391
has db xref: Reactome:Q99217
has db xref: SwissProt:Q99217
symbol: AMELX

anti-Mullerian hormone
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2856
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.3
alternative term: MIF
alternative term: MIS
alternative term: Muellerian-inhibiting factor
alternative term: Muellerian-inhibiting substance
has db xref: ClinVar:AMH
has db xref: Ensembl:ENSG00000104899
has db xref: Genatlas:AMH
has db xref: HGNC:464
has db xref: OMIM:600957
has db xref: Reactome:P03971
has db xref: SwissProt:P03971
symbol: AMH

anti-Mullerian hormone receptor type 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2856
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q13.13
alternative term: MISR2
alternative term: MISRII
alternative term: Muellerian inhibiting substance type II receptor
has db xref: ClinVar:AMHR2
has db xref: Ensembl:ENSG00000135409
has db xref: Genatlas:AMHR2
has db xref: HGNC:465
has db xref: IUPHAR:1793
has db xref: OMIM:600956
has db xref: Reactome:Q16671
has db xref: SwissProt:Q16671
symbol: AMHR2

AMMECR nuclear protein 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_688581
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_86818
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq23
has db xref: ClinVar:AMMECR1
has db xref: Ensembl:ENSG00000101935
has db xref: Genatlas:AMMECR1
has db xref: HGNC:467
has db xref: OMIM:300195
has db xref: Reactome:Q9Y4X0
has db xref: SwissProt:Q9Y4X0
symbol: AMMECR1

solute carrier family 45 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79435
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5p13.2
alternative term: AIM-1
alternative term: OCA4
alternative term: antigen in melanoma 1
alternative term: oculocutaneous albinism type 4
has db xref: ClinVar:SLC45A2
has db xref: Ensembl:ENSG00000164175
has db xref: Genatlas:SLC45A2
has db xref: HGNC:16472
has db xref: IUPHAR:1210
has db xref: OMIM:606202
has db xref: Reactome:Q9UMX9
has db xref: SwissProt:Q9UMX9
symbol: SLC45A2

solute carrier family 4 member 1 (Diego blood group)
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3202
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_398088
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 822
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93608
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93610
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98868
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q21.31
alternative term: Band 3 anion transport protein
alternative term: CD233
alternative term: EMPB3
alternative term: FR
alternative term: Froese blood group
alternative term: RTA1A
alternative term: SW
alternative term: Swann blood group
alternative term: WR
alternative term: Wright blood group
has db xref: ClinVar:SLC4A1
has db xref: Ensembl:ENSG00000004939
has db xref: Genatlas:SLC4A1
has db xref: HGNC:11027
has db xref: IUPHAR:904
has db xref: OMIM:109270
has db xref: Reactome:P02730
has db xref: SwissProt:P02730
symbol: SLC4A1

solute carrier family 4 member 11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1490
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_293603
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98974
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20p13
alternative term: BTR1
alternative term: FECD4
alternative term: NaBC1
alternative term: bicarbonate transporter related protein 1
alternative term: dJ794I6.2
alternative term: sodium-coupled borate cotransporter 1
has db xref: ClinVar:SLC4A11
has db xref: Ensembl:ENSG00000088836
has db xref: Genatlas:SLC4A11
has db xref: HGNC:16438
has db xref: IUPHAR:913
has db xref: OMIM:610206
has db xref: SwissProt:Q8NBS3
symbol: SLC4A11

solute carrier family 4 member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93607
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q13.3
alternative term: Electrogenic sodium bicarbonate cotransporter 1
alternative term: HNBC1
alternative term: KNBC
alternative term: NBC1
alternative term: NBC2
alternative term: NBCe1
alternative term: hhNMC
alternative term: kNBC1
alternative term: kidney type Na+/HCO3- cotransporter
alternative term: pNBC
alternative term: pancreatic sodium bicarbonate cotransporter
has db xref: ClinVar:SLC4A4
has db xref: Ensembl:ENSG00000080493
has db xref: Genatlas:SLC4A4
has db xref: HGNC:11030
has db xref: IUPHAR:908
has db xref: OMIM:603345
has db xref: Reactome:Q9Y6R1
has db xref: SwissProt:Q9Y6R1
symbol: SLC4A4

solute carrier family 5 member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_35710
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q12.3
alternative term: D22S675
alternative term: NAGT
alternative term: SGLT-1
alternative term: sodium/glucose cotransporter 1
has db xref: ClinVar:SLC5A1
has db xref: Ensembl:ENSG00000100170
has db xref: Genatlas:SLC5A1
has db xref: HGNC:11036
has db xref: IUPHAR:915
has db xref: OMIM:182380
has db xref: Reactome:P13866
has db xref: SwissProt:P13866
symbol: SLC5A1

solute carrier family 5 member 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_69076
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16p11.2
has db xref: ClinVar:SLC5A2
has db xref: Ensembl:ENSG00000140675
has db xref: Genatlas:SLC5A2
has db xref: HGNC:11037
has db xref: IUPHAR:916
has db xref: OMIM:182381
has db xref: Reactome:P31639
has db xref: SwissProt:P31639
symbol: SLC5A2

solute carrier family 5 member 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_95716
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.11
alternative term: NIS
alternative term: sodium iodide symporter
has db xref: ClinVar:SLC5A5
has db xref: Ensembl:ENSG00000105641
has db xref: Genatlas:SLC5A5
has db xref: HGNC:11040
has db xref: IUPHAR:920
has db xref: OMIM:601843
has db xref: Reactome:Q92911
has db xref: SwissProt:Q92911
symbol: SLC5A5

solute carrier family 6 member 19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2116
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_42062
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5p15.33
alternative term: B0AT1
alternative term: Hartnup disease
alternative term: Sodium-dependent neutral amino acid transporter B(0)AT1
alternative term: broad neutral amino acid transporter 1
has db xref: ClinVar:SLC6A19
has db xref: Ensembl:ENSG00000174358
has db xref: Genatlas:SLC6A19
has db xref: HGNC:27960
has db xref: IUPHAR:939
has db xref: OMIM:608893
has db xref: Reactome:Q695T7
has db xref: SwissProt:Q695T7
symbol: SLC6A19

solute carrier family 6 member 8
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_52503
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq28
alternative term: CRT
alternative term: CRT-1
alternative term: CRT1
alternative term: CRTR
alternative term: CT1
alternative term: Sodium- and chloride-dependent creatine transporter 1
alternative term: creatine transporter
has db xref: ClinVar:SLC6A8
has db xref: Ensembl:ENSG00000130821
has db xref: Genatlas:SLC6A8
has db xref: HGNC:11055
has db xref: IUPHAR:934
has db xref: OMIM:300036
has db xref: Reactome:P48029
has db xref: SwissProt:P48029
symbol: SLC6A8

solute carrier family 7 member 7
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 470
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q11.2
alternative term: Y+L amino acid transporter 1
alternative term: Y+LAT1
alternative term: y+LAT-1
has db xref: ClinVar:SLC7A7
has db xref: Ensembl:ENSG00000155465
has db xref: Genatlas:SLC7A7
has db xref: HGNC:11065
has db xref: IUPHAR:898
has db xref: OMIM:603593
has db xref: Reactome:Q9UM01
has db xref: SwissProt:Q9UM01
symbol: SLC7A7

solute carrier family 7 member 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93613
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19q13.11
alternative term: BAT1
alternative term: b(0,+)-type amino acid transporter 1
has db xref: ClinVar:SLC7A9
has db xref: Ensembl:ENSG00000021488
has db xref: Genatlas:SLC7A9
has db xref: HGNC:11067
has db xref: IUPHAR:900
has db xref: OMIM:604144
has db xref: Reactome:P82251
has db xref: SwissProt:P82251
symbol: SLC7A9

secreted LY6/PLAUR domain containing 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_87503
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q24.3
alternative term: ANUP
alternative term: ARS
alternative term: ARS component B
alternative term: ArsB
alternative term: LY6-MT
alternative term: LY6LS
alternative term: MDM
alternative term: lymphocyte antigen 6-like secreted
has db xref: ClinVar:SLURP1
has db xref: Ensembl:ENSG00000126233
has db xref: Genatlas:SLURP1
has db xref: HGNC:18746
has db xref: OMIM:606119
has db xref: SwissProt:P55000
symbol: SLURP1

SMAD family member 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2588
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_329971
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 774
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_91387
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 1333
subclass of: Restriction
  on property: has_chromosomal location
  has value: 18q21.2
alternative term: DPC4
has db xref: ClinVar:SMAD4
has db xref: Ensembl:ENSG00000141646
has db xref: Genatlas:SMAD4
has db xref: HGNC:6770
has db xref: OMIM:600993
has db xref: Reactome:Q13485
has db xref: SwissProt:Q13485
symbol: SMAD4

SNF2 related chromatin remodeling annealing helicase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1830
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q35
alternative term: ATP-driven annealing helicase
alternative term: HARP
alternative term: HHARP
alternative term: HepA-related protein
has db xref: ClinVar:SMARCAL1
has db xref: Ensembl:ENSG00000138375
has db xref: Genatlas:SMARCAL1
has db xref: HGNC:11102
has db xref: OMIM:606622
has db xref: SwissProt:Q9NZC9
symbol: SMARCAL1

SWI/SNF related BAF chromatin remodeling complex subunit B1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1465
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2495
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_263662
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93921
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_99966
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_231108
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q11.23
alternative term: BAF47
alternative term: INI-1
alternative term: Ini1
alternative term: PPP1R144
alternative term: RDT
alternative term: SNF5
alternative term: Sfh1p
alternative term: Snr1
alternative term: hSNFS
alternative term: integrase interactor 1
alternative term: malignant rhabdoid tumor suppressor
alternative term: protein phosphatase 1, regulatory subunit 144
alternative term: sucrose nonfermenting, yeast, homolog-like 1
has db xref: ClinVar:SMARCB1
has db xref: Ensembl:ENSG00000099956
has db xref: Genatlas:SMARCB1
has db xref: HGNC:11103
has db xref: OMIM:601607
has db xref: Reactome:Q12824
has db xref: SwissProt:Q12824
symbol: SMARCB1

structural maintenance of chromosomes 1A
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 199
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3095
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_708203
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_220386
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.22
alternative term: DXS423E
alternative term: KIAA0178
alternative term: SB1.8
alternative term: Smcb
has db xref: ClinVar:SMC1A
has db xref: Ensembl:ENSG00000072501
has db xref: Genatlas:SMC1A
has db xref: HGNC:11111
has db xref: OMIM:300040
has db xref: Reactome:Q14683
has db xref: SwissProt:Q14683
symbol: SMC1A

survival of motor neuron 2, centromeric
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: modifying germline mutation in
  some values from: Orphanet_83330
subclass of: Restriction
  on property: modifying germline mutation in
  some values from: Orphanet_83418
subclass of: Restriction
  on property: modifying germline mutation in
  some values from: Orphanet_83419
subclass of: Restriction
  on property: modifying germline mutation in
  some values from: Orphanet_83420
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q13.2
alternative term: BCD541
alternative term: GEMIN1
alternative term: SMNC
alternative term: TDRD16B
alternative term: tudor domain containing 16B
has db xref: ClinVar:SMN2
has db xref: Ensembl:ENSG00000205571
has db xref: Genatlas:SMN2
has db xref: HGNC:11118
has db xref: OMIM:601627
has db xref: Reactome:Q16637
has db xref: SwissProt:Q16637
symbol: SMN2

sphingomyelin phosphodiesterase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_77292
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_77293
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.4
alternative term: ASM
alternative term: Niemann-Pick type A/B
alternative term: acid sphingomyelinase
has db xref: ClinVar:SMPD1
has db xref: Ensembl:ENSG00000166311
has db xref: Genatlas:SMPD1
has db xref: HGNC:11120
has db xref: IUPHAR:2514
has db xref: OMIM:607608
has db xref: Reactome:P17405
has db xref: SwissProt:P17405
symbol: SMPD1

snail family transcriptional repressor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2884
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 895
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8q11.21
alternative term: SLUGH
alternative term: SLUGH1
alternative term: SNAIL2
has db xref: ClinVar:SNAI2
has db xref: Ensembl:ENSG00000019549
has db xref: Genatlas:SNAI2
has db xref: HGNC:11094
has db xref: OMIM:602150
has db xref: Reactome:O43623
has db xref: SwissProt:O43623
symbol: SNAI2

synaptosome associated protein 29
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_66631
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q11.21
alternative term: CEDNIK
alternative term: SNAP-29
alternative term: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
alternative term: soluble 29 kDa NSF attachment protein
has db xref: ClinVar:SNAP29
has db xref: Ensembl:ENSG00000099940
has db xref: Genatlas:SNAP29
has db xref: HGNC:11133
has db xref: OMIM:604202
has db xref: Reactome:O95721
has db xref: SwissProt:O95721
symbol: SNAP29

synuclein alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_171695
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 2828
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_411602
subclass of: Restriction
  on property: has_chromosomal location
  has value: 4q22.1
alternative term: NACP
alternative term: PD1
alternative term: a-synuclein
alternative term: alpha-synuclein
alternative term: non A4 component of amyloid precursor
has db xref: ClinVar:SNCA
has db xref: Ensembl:ENSG00000145335
has db xref: Genatlas:SNCA
has db xref: HGNC:11138
has db xref: IUPHAR:3285
has db xref: OMIM:163890
has db xref: Reactome:P37840
has db xref: SwissProt:P37840
symbol: SNCA

small nuclear ribonucleoprotein polypeptide N
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_177901
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_177904
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_177907
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_177910
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_411515
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_98754
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q11.2
alternative term: HCERN3
alternative term: RT-LI
alternative term: SM protein N
alternative term: SM-D
alternative term: SMN
alternative term: SNRNP-N
alternative term: SNURF-SNRPN
alternative term: small nuclear ribonucleoprotein N
alternative term: tissue-specific splicing protein
has db xref: ClinVar:SNRPN
has db xref: Ensembl:ENSG00000128739
has db xref: Genatlas:SNRPN
has db xref: HGNC:11164
has db xref: OMIM:182279
has db xref: Reactome:P63162
has db xref: SwissProt:P63162
symbol: SNRPN

superoxide dismutase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 803
subclass of: Restriction
  on property: has_chromosomal location
  has value: 21q22.11
alternative term: IPOA
has db xref: ClinVar:SOD1
has db xref: Ensembl:ENSG00000142168
has db xref: Genatlas:SOD1
has db xref: HGNC:11179
has db xref: OMIM:147450
has db xref: Reactome:P00441
has db xref: SwissProt:P00441
symbol: SOD1

SOS Ras/Rac guanine nucleotide exchange factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2024
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 648
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p22.1
alternative term: GF1
alternative term: HGF
has db xref: ClinVar:SOS1
has db xref: Ensembl:ENSG00000115904
has db xref: Genatlas:SOS1
has db xref: HGNC:11187
has db xref: IUPHAR:3096
has db xref: OMIM:182530
has db xref: Reactome:Q07889
has db xref: SwissProt:Q07889
symbol: SOS1

SRY-box transcription factor 10
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_163746
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 895
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 897
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 478
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q13.1
alternative term: DOM
alternative term: SOX-10
alternative term: WS2E
alternative term: WS4
alternative term: dominant megacolon, mouse, human homolog of
has db xref: ClinVar:SOX10
has db xref: Ensembl:ENSG00000100146
has db xref: Genatlas:SOX10
has db xref: HGNC:11190
has db xref: OMIM:602229
has db xref: Reactome:P56693
has db xref: SwissProt:P56693
symbol: SOX10

SRY-box transcription factor 18
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_69735
subclass of: Restriction
  on property: has_chromosomal location
  has value: 20q13.33
has db xref: ClinVar:SOX18
has db xref: Ensembl:ENSG00000203883
has db xref: Genatlas:SOX18
has db xref: HGNC:11194
has db xref: OMIM:601618
has db xref: SwissProt:P35713
symbol: SOX18

SRY-box transcription factor 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3157
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_35612
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_77298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98938
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3q26.33
has db xref: ClinVar:SOX2
has db xref: Ensembl:ENSG00000181449
has db xref: Genatlas:SOX2
has db xref: HGNC:11195
has db xref: OMIM:184429
has db xref: Reactome:P48431
has db xref: SwissProt:P48431
symbol: SOX2

SRY-box transcription factor 9
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2138
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 242
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_251510
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 393
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 718
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 140
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q24.3
alternative term: SRA1
has db xref: ClinVar:SOX9
has db xref: Ensembl:ENSG00000125398
has db xref: Genatlas:SOX9
has db xref: HGNC:11204
has db xref: OMIM:608160
has db xref: Reactome:P48436
has db xref: SwissProt:P48436
symbol: SOX9

SP110 nuclear body protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_79124
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q37.1
has db xref: ClinVar:SP110
has db xref: Ensembl:ENSG00000135899
has db xref: Genatlas:SP110
has db xref: HGNC:5401
has db xref: IUPHAR:2778
has db xref: OMIM:604457
has db xref: SwissProt:Q9HB58
symbol: SP110

Colonic atresia
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic intestinal malformation
definition: Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
definition citation: Orphanet
has db xref: ICD-10:Q42.9
has db xref: ICD-11:LB16.0
has db xref: MONDO:0010562
has db xref: MeSH:C562562
has db xref: OMIM:303650
has db xref: UMLS:C0266190
has_inheritance: Not applicable
has_age_of_onset: Antenatal
has_age_of_onset: Neonatal
present_in: Europe AND has_birth_prevalence_range : 1-9 / 100 000
present_in: United Kingdom AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Worldwide AND has_point_prevalence_range : Unknown
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1198
notation: ORPHA:1198

Axiom
annotated source: Colonic atresia
annotated property: hasDbXref
annotated target: ICD-10:Q42.9
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Colonic atresia
annotated property: hasDbXref
annotated target: ICD-11:LB16.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Colonic atresia
annotated property: hasDbXref
annotated target: MONDO:0010562
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Colonic atresia
annotated property: hasDbXref
annotated target: MeSH:C562562
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Colonic atresia
annotated property: hasDbXref
annotated target: OMIM:303650
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Colonic atresia
annotated property: hasDbXref
annotated target: UMLS:C0266190
manual_assertion: E (Exact mapping: the two concepts are equivalent)

spastin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Autosomal dominant spastic paraplegia type 4
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p22.3
alternative term: ADPSP
alternative term: FSP2
alternative term: KIAA1083
has db xref: ClinVar:SPAST
has db xref: Ensembl:ENSG00000021574
has db xref: Genatlas:SPAST
has db xref: HGNC:11233
has db xref: OMIM:604277
has db xref: SwissProt:Q9UBP0
symbol: SPAST

SPG11 vesicle trafficking associated, spatacsin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2822
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_300605
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_466775
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q21.1
alternative term: FLJ21439
alternative term: spatacsin
has db xref: ClinVar:SPG11
has db xref: Ensembl:ENSG00000104133
has db xref: Genatlas:SPG11
has db xref: HGNC:11226
has db xref: OMIM:610844
has db xref: SwissProt:Q96JI7
symbol: SPG11

spartin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Autosomal recessive spastic paraplegia type 20
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q13.3
alternative term: KIAA0610
alternative term: TAHCCP1
has db xref: ClinVar:SPG20
has db xref: Ensembl:ENSG00000133104
has db xref: Genatlas:SPG20
has db xref: HGNC:18514
has db xref: OMIM:607111
has db xref: Reactome:Q8N0X7
has db xref: SwissProt:Q8N0X7
symbol: SPART

SPG21 abhydrolase domain containing, maspardin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Autosomal recessive spastic paraplegia type 21
subclass of: Restriction
  on property: has_chromosomal location
  has value: 15q22.31
alternative term: ABHD21
alternative term: ACP33
alternative term: BM-019
alternative term: GL010
alternative term: MAST
has db xref: ClinVar:SPG21
has db xref: Ensembl:ENSG00000090487
has db xref: Genatlas:SPG21
has db xref: HGNC:20373
has db xref: OMIM:608181
has db xref: Reactome:Q9NZD8
has db xref: SwissProt:Q9NZD8
symbol: SPG21

atlastin GTPase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Autosomal dominant spastic paraplegia type 3
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_36386
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q22.1
alternative term: AD-FSP
alternative term: FSP1
alternative term: atlastin
has db xref: ClinVar:ATL1
has db xref: Ensembl:ENSG00000198513
has db xref: Genatlas:ATL1
has db xref: HGNC:11231
has db xref: OMIM:606439
has db xref: Reactome:Q8WXF7
has db xref: SwissProt:Q8WXF7
symbol: ATL1

SPG7 matrix AAA peptidase subunit, paraplegin
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_35689
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99013
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q24.3
alternative term: CAR
alternative term: SPG5C
alternative term: paraplegin
has db xref: ClinVar:SPG7
has db xref: Ensembl:ENSG00000197912
has db xref: Genatlas:SPG7
has db xref: HGNC:11237
has db xref: OMIM:602783
has db xref: Reactome:Q9UQ90
has db xref: SwissProt:Q9UQ90
symbol: SPG7

serine peptidase inhibitor Kazal type 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Tropical pancreatitis
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_700124
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32
alternative term: PCTT
alternative term: PSTI
alternative term: Spink3
alternative term: TATI
has db xref: ClinVar:SPINK1
has db xref: Ensembl:ENSG00000164266
has db xref: Genatlas:SPINK1
has db xref: HGNC:11244
has db xref: OMIM:167790
has db xref: SwissProt:P00995
symbol: SPINK1

serine peptidase inhibitor Kazal type 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 634
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32
alternative term: DKFZp686K19184
alternative term: FLJ21544
alternative term: FLJ97536
alternative term: FLJ97596
alternative term: FLJ99794
alternative term: LEKTI
alternative term: LETKI
alternative term: NETS
alternative term: NS
alternative term: VAKTI
alternative term: lymphoepithelial Kazal-type-related inhibitor
has db xref: ClinVar:SPINK5
has db xref: Ensembl:ENSG00000133710
has db xref: Genatlas:SPINK5
has db xref: HGNC:15464
has db xref: OMIM:605010
has db xref: Reactome:Q9NQ38
has db xref: SwissProt:Q9NQ38
symbol: SPINK5

sepiapterin reductase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_70594
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p13.2
alternative term: SDR38C1
alternative term: Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
alternative term: short chain dehydrogenase/reductase family 38C, member 1
has db xref: ClinVar:SPR
has db xref: Ensembl:ENSG00000116096
has db xref: Genatlas:SPR
has db xref: HGNC:11257
has db xref: IUPHAR:3020
has db xref: OMIM:182125
has db xref: Reactome:P35270
has db xref: SwissProt:P35270
symbol: SPR

spectrin alpha, erythrocytic 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 288
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 822
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q23.1
alternative term: EL2
alternative term: elliptocytosis 2
has db xref: ClinVar:SPTA1
has db xref: Ensembl:ENSG00000163554
has db xref: Genatlas:SPTA1
has db xref: HGNC:11272
has db xref: OMIM:182860
has db xref: Reactome:P02549
has db xref: SwissProt:P02549
symbol: SPTA1

spectrin beta, erythrocytic
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 288
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 822
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q23.3
alternative term: spherocytosis, clinical type I
has db xref: ClinVar:SPTB
has db xref: Ensembl:ENSG00000070182
has db xref: Genatlas:SPTB
has db xref: HGNC:11274
has db xref: OMIM:182870
has db xref: Reactome:P11277
has db xref: SwissProt:P11277
symbol: SPTB

spectrin beta, non-erythrocytic 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98766
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_352403
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.2
has db xref: ClinVar:SPTBN2
has db xref: Ensembl:ENSG00000173898
has db xref: Genatlas:SPTBN2
has db xref: HGNC:11276
has db xref: OMIM:604985
has db xref: Reactome:O15020
has db xref: SwissProt:O15020
symbol: SPTBN2

serine palmitoyltransferase long chain base subunit 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_300605
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_36386
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q22.31
alternative term: HSAN1
alternative term: LCB1
alternative term: SPTI
alternative term: hLCB1
has db xref: ClinVar:SPTLC1
has db xref: Ensembl:ENSG00000090054
has db xref: Genatlas:SPTLC1
has db xref: HGNC:11277
has db xref: IUPHAR:2509
has db xref: OMIM:605712
has db xref: Reactome:O15269
has db xref: SwissProt:O15269
symbol: SPTLC1

steroid 5 alpha-reductase 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 1331
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 753
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2p23.1
alternative term: 3-oxo-5-alpha-steroid 4-dehydrogenase 2
has db xref: ClinVar:SRD5A2
has db xref: Ensembl:ENSG00000277893
has db xref: Genatlas:SRD5A2
has db xref: HGNC:11285
has db xref: IUPHAR:2633
has db xref: OMIM:607306
has db xref: Reactome:P31213
has db xref: SwissProt:P31213
symbol: SRD5A2

sushi repeat containing protein X-linked 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_163721
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 1945
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_98889
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq22.1
alternative term: SRPUL
has db xref: ClinVar:SRPX2
has db xref: Ensembl:ENSG00000102359
has db xref: Genatlas:SRPX2
has db xref: HGNC:30668
has db xref: OMIM:300642
has db xref: SwissProt:O60687
symbol: SRPX2

sex determining region Y
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2138
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_251510
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 393
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 1772
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 242
subclass of: Restriction
  on property: has_chromosomal location
  has value: Yp11.2
alternative term: TDF
alternative term: testis-determining factor
has db xref: ClinVar:SRY
has db xref: Ensembl:ENSG00000184895
has db xref: Genatlas:SRY
has db xref: HGNC:11311
has db xref: OMIM:480000
has db xref: Reactome:Q05066
has db xref: SwissProt:Q05066
symbol: SRY

SS18 subunit of BAF chromatin remodeling complex
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 3273
subclass of: Restriction
  on property: has_chromosomal location
  has value: 18q11.2
alternative term: SMARCL1
alternative term: SYT
has db xref: ClinVar:SS18
has db xref: Ensembl:ENSG00000141380
has db xref: Genatlas:SS18
has db xref: HGNC:11340
has db xref: OMIM:600192
has db xref: SwissProt:Q15532
symbol: SS18

SSX family member 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_276234
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 3273
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.23
alternative term: CT5.1
alternative term: cancer/testis antigen family 5, member 1
has db xref: ClinVar:SSX1
has db xref: Ensembl:ENSG00000126752
has db xref: Genatlas:SSX1
has db xref: HGNC:11335
has db xref: OMIM:312820
has db xref: SwissProt:Q16384
symbol: SSX1

steroidogenic acute regulatory protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 361
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_325524
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_325529
subclass of: Restriction
  on property: has_chromosomal location
  has value: 8p11.23
alternative term: STARD1
alternative term: StAR
alternative term: StAR related lipid transfer (START) domain containing 1
has db xref: ClinVar:STAR
has db xref: Ensembl:ENSG00000147465
has db xref: Genatlas:STAR
has db xref: HGNC:11359
has db xref: OMIM:600617
has db xref: Reactome:P49675
has db xref: SwissProt:P49675
symbol: STAR

signal transducer and activator of transcription 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_319595
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_391311
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet_391487
subclass of: Restriction
  on property: has_chromosomal location
  has value: 2q32.2
alternative term: ISGF-3
alternative term: STAT91
alternative term: transcription factor ISGF-3 components p91/p84
has db xref: ClinVar:STAT1
has db xref: Ensembl:ENSG00000115415
has db xref: Genatlas:STAT1
has db xref: HGNC:11362
has db xref: OMIM:600555
has db xref: Reactome:P42224
has db xref: SwissProt:P42224
symbol: STAT1

signal transducer and activator of transcription 5B
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_220465
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet 520
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q21.2
has db xref: ClinVar:STAT5B
has db xref: Ensembl:ENSG00000173757
has db xref: Genatlas:STAT5B
has db xref: HGNC:11367
has db xref: OMIM:604260
has db xref: Reactome:P51692
has db xref: SwissProt:P51692
symbol: STAT5B

serine/threonine kinase 11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2869
subclass of: Restriction
  on property: has_chromosomal location
  has value: 19p13.3
alternative term: LKB1
alternative term: PJS
alternative term: polarization-related protein LKB1
has db xref: ClinVar:STK11
has db xref: Ensembl:ENSG00000118046
has db xref: Genatlas:STK11
has db xref: HGNC:11389
has db xref: IUPHAR:2212
has db xref: OMIM:602216
has db xref: Reactome:Q15831
has db xref: SwissProt:Q15831
symbol: STK11

steroid sulfatase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 461
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_281090
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp22.31
alternative term: ARSC
alternative term: arylsulfatase C
alternative term: steryl-sulfatase
has db xref: ClinVar:STS
has db xref: Ensembl:ENSG00000101846
has db xref: Genatlas:STS
has db xref: HGNC:11425
has db xref: OMIM:300747
has db xref: Reactome:P08842
has db xref: SwissProt:P08842
symbol: STS

syntaxin 11
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 540
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q24.2
has db xref: ClinVar:STX11
has db xref: Ensembl:ENSG00000135604
has db xref: Genatlas:STX11
has db xref: HGNC:11429
has db xref: OMIM:605014
has db xref: Reactome:O75558
has db xref: SwissProt:O75558
symbol: STX11

succinate-CoA ligase ADP-forming subunit beta
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1933
subclass of: Restriction
  on property: has_chromosomal location
  has value: 13q14.2
alternative term: succinate--CoA ligase (ADP-forming)
has db xref: ClinVar:SUCLA2
has db xref: Ensembl:ENSG00000136143
has db xref: Genatlas:SUCLA2
has db xref: HGNC:11448
has db xref: OMIM:603921
has db xref: Reactome:Q9P2R7
has db xref: SwissProt:Q9P2R7
symbol: SUCLA2

SUFU negative regulator of hedgehog signaling
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2495
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 475
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_251858
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_251863
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet_263662
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet_280200
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 377
subclass of: Restriction
  on property: has_chromosomal location
  has value: 10q24.32
alternative term: PRO1280
alternative term: SUFUH
alternative term: SUFUXL
has db xref: ClinVar:SUFU
has db xref: Ensembl:ENSG00000107882
has db xref: Genatlas:SUFU
has db xref: HGNC:16466
has db xref: OMIM:607035
has db xref: Reactome:Q9UMX1
has db xref: SwissProt:Q9UMX1
symbol: SUFU

sulfatase modifying factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 585
subclass of: Restriction
  on property: has_chromosomal location
  has value: 3p26.1
alternative term: FGE
alternative term: UNQ3037
has db xref: ClinVar:SUMF1
has db xref: Ensembl:ENSG00000144455
has db xref: Genatlas:SUMF1
has db xref: HGNC:20376
has db xref: OMIM:607939
has db xref: Reactome:Q8NBK3
has db xref: SwissProt:Q8NBK3
symbol: SUMF1

Esophageal atresia
type: Class
subclass of: Orphanet_377791
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Non-syndromic esophageal malformation
alternative term: CEA
alternative term: Congenital esophageal atresia
alternative term: EA/TEF
alternative term: Esophageal atresia with or without trachea-esophageal fistula
alternative term: Oesophageal atresia
definition: A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.
definition citation: Orphanet
has db xref: ICD-10:Q39.0
has db xref: ICD-10:Q39.1
has db xref: ICD-11:LB12.1
has db xref: MeSH:D004933
has db xref: MedDRA:10030146
has db xref: OMIM:189960
has db xref: UMLS:C0014850
has_inheritance: Not applicable
has_age_of_onset: Neonatal
present_in: Austria AND has_birth_prevalence_average_value : 19.5 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Belgium AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Denmark AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Europe AND has_point_prevalence_range : 1-5 / 10 000
present_in: France AND has_birth_prevalence_average_value : 11.8 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Germany AND has_birth_prevalence_average_value : 23.8 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Hungary AND has_birth_prevalence_average_value : 26.6 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Ireland AND has_birth_prevalence_average_value : 10.8 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Italy AND has_birth_prevalence_average_value : 18.4 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Norway AND has_birth_prevalence_average_value : 34.4 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Poland AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000
present_in: Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Spain AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: United Kingdom AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000
present_in: United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1199
notation: ORPHA:1199

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: ICD-10:Q39.0
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: ICD-10:Q39.1
manual_assertion: - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: ICD-11:LB12.1
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: MeSH:D004933
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: MedDRA:10030146
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: OMIM:189960
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Esophageal atresia
annotated property: hasDbXref
annotated target: UMLS:C0014850
manual_assertion: E (Exact mapping: the two concepts are equivalent)

sulfite oxidase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_99731
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q13.2
has db xref: ClinVar:SUOX
has db xref: Ensembl:ENSG00000139531
has db xref: Genatlas:SUOX
has db xref: HGNC:11460
has db xref: OMIM:606887
has db xref: Reactome:P51687
has db xref: SwissProt:P51687
symbol: SUOX

SURF1 cytochrome c oxidase assembly factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_391351
subclass of: Restriction
  on property: has_chromosomal location
  has value: 9q34.2
alternative term: SHY1
alternative term: surfeit locus protein 1
has db xref: ClinVar:SURF1
has db xref: Ensembl:ENSG00000148290
has db xref: Genatlas:SURF1
has db xref: HGNC:11474
has db xref: OMIM:185620
has db xref: Reactome:Q15526
has db xref: SwissProt:Q15526
symbol: SURF1

synapsin I
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_85294
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xp11.3-p11.23
alternative term: Synapsin-1
has db xref: ClinVar:SYN1
has db xref: Ensembl:ENSG00000008056
has db xref: Genatlas:SYN1
has db xref: HGNC:11494
has db xref: OMIM:313440
has db xref: Reactome:P17600
has db xref: SwissProt:P17600
symbol: SYN1

T-box transcription factor T
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: major susceptibility factor in
  some values from: Orphanet 178
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_397927
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q27
has db xref: ClinVar:T
has db xref: Ensembl:ENSG00000164458
has db xref: Genatlas:T
has db xref: HGNC:11515
has db xref: IUPHAR:3304
has db xref: OMIM:601397
has db xref: SwissProt:O15178
symbol: TBXT

tumor associated calcium signal transducer 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98957
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p32.1
alternative term: EGP-1
alternative term: GA733-1
alternative term: TROP2
alternative term: epithelial glycoprotein-1
alternative term: trophoblast cell surface antigen 2
has db xref: ClinVar:TACSTD2
has db xref: Ensembl:ENSG00000184292
has db xref: Genatlas:TACSTD2
has db xref: HGNC:11530
has db xref: IUPHAR:2837
has db xref: OMIM:137290
has db xref: SwissProt:P09758
symbol: TACSTD2

TAL bHLH transcription factor 1, erythroid differentiation factor
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: part of a fusion gene in
  some values from: Orphanet_99861
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1p33
alternative term: SCL
alternative term: bHLHa17
has db xref: ClinVar:TAL1
has db xref: Ensembl:ENSG00000162367
has db xref: Genatlas:TAL1
has db xref: HGNC:11556
has db xref: OMIM:187040
has db xref: Reactome:P17542
has db xref: SwissProt:P17542
symbol: TAL1

transporter 2, ATP binding cassette subfamily B member
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_34592
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6p21.32
alternative term: D6S217E
alternative term: PSF2
alternative term: RING11
has db xref: ClinVar:TAP2
has db xref: Ensembl:ENSG00000204267
has db xref: Genatlas:TAP2
has db xref: HGNC:44
has db xref: IUPHAR:770
has db xref: OMIM:170261
has db xref: Reactome:Q03519
has db xref: SwissProt:Q03519
symbol: TAP2

tyrosine aminotransferase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_28378
subclass of: Restriction
  on property: has_chromosomal location
  has value: 16q22.2
has db xref: ClinVar:TAT
has db xref: Ensembl:ENSG00000198650
has db xref: Genatlas:TAT
has db xref: HGNC:11573
has db xref: IUPHAR:2527
has db xref: OMIM:613018
has db xref: Reactome:P17735
has db xref: SwissProt:P17735
symbol: TAT

tafazzin, phospholipid-lysophospholipid transacylase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Barth syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq28
alternative term: BTHS
alternative term: Barth syndrome
alternative term: G4.5
alternative term: TAZ1
alternative term: XAP-2
alternative term: transcriptional coactivator with PDZ-binding motif
has db xref: ClinVar:TAZ
has db xref: Ensembl:ENSG00000102125
has db xref: Genatlas:TAZ
has db xref: HGNC:11577
has db xref: OMIM:300394
has db xref: Reactome:Q16635
has db xref: SwissProt:Q16635
symbol: TAFAZZIN

tubulin folding cofactor E
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 2323
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_496756
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_93324
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q42.3
alternative term: KCS1
alternative term: pac2
has db xref: ClinVar:TBCE
has db xref: Ensembl:ENSG00000284770
has db xref: Genatlas:TBCE
has db xref: HGNC:11582
has db xref: OMIM:604934
has db xref: Reactome:Q15813
has db xref: SwissProt:Q15813
symbol: TBCE

transducin beta like 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 904
subclass of: Restriction
  on property: has_chromosomal location
  has value: 7q11.23
alternative term: DKFZP43N024
alternative term: WBSCR13
alternative term: WS-betaTRP
alternative term: Williams-Beuren syndrome chromosome region 13
has db xref: ClinVar:TBL2
has db xref: Ensembl:ENSG00000106638
has db xref: Genatlas:TBL2
has db xref: HGNC:11586
has db xref: OMIM:605842
has db xref: SwissProt:Q9Y4P3
symbol: TBL2

TATA-box binding protein
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_98759
subclass of: Restriction
  on property: has_chromosomal location
  has value: 6q27
alternative term: Spinocerebellar ataxia 17
alternative term: TBP1
alternative term: TFIID
has db xref: ClinVar:TBP
has db xref: Ensembl:ENSG00000112592
has db xref: Genatlas:TBP
has db xref: HGNC:11588
has db xref: OMIM:600075
has db xref: Reactome:P20226
has db xref: SwissProt:P20226
symbol: TBP

T-box transcription factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 567
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_665044
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_665058
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_685017
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 1727
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet 567
subclass of: Restriction
  on property: candidate gene tested in
  some values from: Orphanet 3303
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q11.21
alternative term: CATCH22
has db xref: ClinVar:TBX1
has db xref: Ensembl:ENSG00000184058
has db xref: Genatlas:TBX1
has db xref: HGNC:11592
has db xref: OMIM:602054
has db xref: SwissProt:O43435
symbol: TBX1

T-box transcription factor 19
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_199296
subclass of: Restriction
  on property: has_chromosomal location
  has value: 1q24.2
alternative term: TBS 19
alternative term: TPIT
alternative term: dj747L4.1
has db xref: ClinVar:TBX19
has db xref: Ensembl:ENSG00000143178
has db xref: Genatlas:TBX19
has db xref: HGNC:11596
has db xref: OMIM:604614
has db xref: Reactome:O60806
has db xref: SwissProt:O60806
symbol: TBX19

T-box transcription factor 22
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_324601
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 921
subclass of: Restriction
  on property: has_chromosomal location
  has value: Xq21.1
has db xref: ClinVar:TBX22
has db xref: Ensembl:ENSG00000122145
has db xref: Genatlas:TBX22
has db xref: HGNC:11600
has db xref: OMIM:300307
has db xref: SwissProt:Q9Y458
symbol: TBX22

T-box transcription factor 3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 3138
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.21
alternative term: TBX3-ISO
alternative term: XHL
has db xref: ClinVar:TBX3
has db xref: Ensembl:ENSG00000135111
has db xref: Genatlas:TBX3
has db xref: HGNC:11602
has db xref: OMIM:601621
has db xref: Reactome:O15119
has db xref: SwissProt:O15119
symbol: TBX3

T-box transcription factor 4
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1509
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_275777
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 3301
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_238578
subclass of: Restriction
  on property: role in the phenotype of
  some values from: Orphanet_261279
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q23.2
has db xref: ClinVar:TBX4
has db xref: Ensembl:ENSG00000121075
has db xref: Genatlas:TBX4
has db xref: HGNC:11603
has db xref: OMIM:601719
has db xref: SwissProt:P57082
symbol: TBX4

T-box transcription factor 5
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 392
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Romano-Ward syndrome
subclass of: Restriction
  on property: has_chromosomal location
  has value: 12q24.21
has db xref: ClinVar:TBX5
has db xref: Ensembl:ENSG00000089225
has db xref: Genatlas:TBX5
has db xref: HGNC:11604
has db xref: OMIM:601620
has db xref: Reactome:Q99593
has db xref: SwissProt:Q99593
symbol: TBX5

titin-cap
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 154
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_34514
subclass of: Restriction
  on property: has_chromosomal location
  has value: 17q12
alternative term: 19 kDa sarcomeric protein
alternative term: CMD1N
alternative term: T-cap
alternative term: TELE
alternative term: telethonin
alternative term: teneurin C-terminal associated peptide
has db xref: ClinVar:TCAP
has db xref: Ensembl:ENSG00000173991
has db xref: Genatlas:TCAP
has db xref: HGNC:11610
has db xref: OMIM:604488
has db xref: Reactome:O15273
has db xref: SwissProt:O15273
symbol: TCAP

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 1782
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_210110
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 486
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet 667
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q13.2
alternative term: ATP6N1C
alternative term: ATP6V0A3
alternative term: Atp6i
alternative term: OC-116
alternative term: OC116
alternative term: T-cell immune response cDNA 7
alternative term: TIRC7
alternative term: V-ATPase subunit a3
alternative term: a3
has db xref: ClinVar:TCIRG1
has db xref: Ensembl:ENSG00000110719
has db xref: Genatlas:TCIRG1
has db xref: HGNC:11647
has db xref: IUPHAR:825
has db xref: OMIM:604592
has db xref: Reactome:Q13488
has db xref: SwissProt:Q13488
symbol: TCIRG1

transcobalamin 2
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 859
subclass of: Restriction
  on property: has_chromosomal location
  has value: 22q12.2
alternative term: D22S676
alternative term: D22S750
alternative term: TC2
alternative term: macrocytic anemia
has db xref: ClinVar:TCN2
has db xref: Ensembl:ENSG00000185339
has db xref: Genatlas:TCN2
has db xref: HGNC:11653
has db xref: OMIM:613441
has db xref: Reactome:P20062
has db xref: SwissProt:P20062
symbol: TCN2

NON RARE IN EUROPE: Pernicious anemia
type: Class
subclass of: Orphanet C048
alternative term: NON RARE IN EUROPE: Acquired pernicious anemia
alternative term: NON RARE IN EUROPE: Addison-Biermer anemia
alternative term: NON RARE IN EUROPE: Addisonian anemia
alternative term: NON RARE IN EUROPE: Biermer anemia
alternative term: NON RARE IN EUROPE: Biermer disease
alternative term: NON RARE IN EUROPE: Juvenile onset pernicious anemia
reason for inactivation: This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases.
has db xref: ICD-10:D51.0
deprecated: true
notation: ORPHA:120

Axiom
annotated source: NON RARE IN EUROPE: Pernicious anemia
annotated property: hasDbXref
annotated target: ICD-10:D51.0
manual_assertion: - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology).

Burn-McKeown syndrome
type: Class
subclass of: Orphanet_377789
subclass of: Orphanet_557493
subclass of: Restriction
  on property: part_of
  some values from: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_156246
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_330206
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_435606
subclass of: Restriction
  on property: part_of
  some values from: Orphanet_90642
alternative term: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
definition: A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.
definition citation: Orphanet
has db xref: ICD-10:Q87.8
has db xref: MONDO:0012064
has db xref: MeSH:C537411
has db xref: OMIM:608572
has db xref: OMIM:616462
has db xref: UMLS:C1837822
has_inheritance: Autosomal recessive
has_age_of_onset: Neonatal
present_in: Worldwide AND has_cases/families_value : 20.0 (Family(ies))
present_in: Worldwide AND has_point_prevalence_range : <1 / 1 000 000
expert link: https://www.orpha.net/consor/cgi-bin/OC_Exp.php
website link: https://www.orpha.net/en/disease/detail/1200
notation: ORPHA:1200

Axiom
annotated source: Burn-McKeown syndrome
annotated property: hasDbXref
annotated target: ICD-10:Q87.8
manual_assertion: - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet).

Axiom
annotated source: Burn-McKeown syndrome
annotated property: hasDbXref
annotated target: MONDO:0012064
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Burn-McKeown syndrome
annotated property: hasDbXref
annotated target: MeSH:C537411
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Burn-McKeown syndrome
annotated property: hasDbXref
annotated target: OMIM:608572
manual_assertion: E (Exact mapping: the two concepts are equivalent)

Axiom
annotated source: Burn-McKeown syndrome
annotated property: hasDbXref
annotated target: OMIM:616462
manual_assertion: BTNT (ORPHAcode is broader than the targeted code used to represent it)

Axiom
annotated source: Burn-McKeown syndrome
annotated property: hasDbXref
annotated target: UMLS:C1837822
manual_assertion: E (Exact mapping: the two concepts are equivalent)

treacle ribosome biogenesis factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet 861
subclass of: Restriction
  on property: has_chromosomal location
  has value: 5q32-q33.1
alternative term: TCS
alternative term: treacle
has db xref: ClinVar:TCOF1
has db xref: Ensembl:ENSG00000070814
has db xref: Genatlas:TCOF1
has db xref: HGNC:11654
has db xref: OMIM:606847
has db xref: Reactome:Q13428
has db xref: SwissProt:Q13428
symbol: TCOF1

tyrosyl-DNA phosphodiesterase 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_94124
subclass of: Restriction
  on property: has_chromosomal location
  has value: 14q32.11
alternative term: FLJ11090
alternative term: SCAN1
has db xref: ClinVar:TDP1
has db xref: Ensembl:ENSG00000042088
has db xref: Genatlas:TDP1
has db xref: HGNC:18884
has db xref: OMIM:607198
has db xref: Reactome:Q9NUW8
has db xref: SwissProt:Q9NUW8
symbol: TDP1

TEA domain transcription factor 1
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_86813
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11p15.3
alternative term: TEF-1
alternative term: transcriptional enhancer factor 1
has db xref: ClinVar:TEAD1
has db xref: Ensembl:ENSG00000187079
has db xref: Genatlas:TEAD1
has db xref: HGNC:11714
has db xref: IUPHAR:3240
has db xref: OMIM:189967
has db xref: Reactome:P28347
has db xref: SwissProt:P28347
symbol: TEAD1

tectorin alpha
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90635
subclass of: Restriction
  on property: disease-causing germline mutation(s) in
  some values from: Orphanet_90636
subclass of: Restriction
  on property: has_chromosomal location
  has value: 11q23.3
has db xref: ClinVar:TECTA
has db xref: Ensembl:ENSG00000109927
has db xref: Genatlas:TECTA
has db xref: HGNC:11720
has db xref: OMIM:602574
has db xref: Reactome:O75443
has db xref: SwissProt:O75443
symbol: TECTA

TEK receptor tyrosine kinase
type: Class
subclass of: Orphanet_410298
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Blue rubber bleb nevus
subclass of: Restriction
  on property: disease-causing somatic mutation(s) in
  some values from: Orphanet_714806
subclass of: Restriction
  on property: disease-causing germline mutation(s) (loss of function) in
  some values from: Orphanet_98976
subclass of: Restriction
  on property: disease-causing germline mutation(s) (gain of function) in
  some values from: Orphanet 2451
alternative term: CD202b
alternative term: TIE-2
alternative term: TIE2
alternative term: VMCM1
alternative term: angiopoietin-1 receptor
has db xref: ClinVar:TEK
has db xref: Ensembl:ENSG00000120156
has db xref: Genatlas:TEK
has db xref: HGNC:11724
has db xref: IUPHAR:1842
has db xref: OMIM:600221
has db xref: Reactome:Q02763
has db xref: SwissProt:Q02763
symbol: TEK