Ontology Diff Summary Diff date: 2023/12/12 15:31:05 First ontology URI: /mnt/g/Ontologies/ORDO/GenerateORDO_Docker/ORDO_en_4.4.owl Second ontology URI: /mnt/g/Ontologies/ORDO/ORDO_2023/outputs/ORDO_4.3/ORDO_en_4.3.owl Number of classes changed: 176 Number of classes added: 158 Number of classes deleted: 60 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_140514 Label(s): mitochondrially encoded tRNA-Glu (GAA/G) + 'mitochondrially encoded tRNA-Glu (GAA/G)' SubClassOf 'disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' Class: http://www.orpha.net/ORDO/Orphanet_679 Label(s): Malignant atrophic papulosis - 'Malignant atrophic papulosis' SubClassOf 'subtype of a disorder' - 'Malignant atrophic papulosis' SubClassOf 'part_of' some 'Atrophic papulosis' + 'Malignant atrophic papulosis' SubClassOf 'part_of' some 'Skin vascular disease' + 'Malignant atrophic papulosis' SubClassOf 'part_of' some 'Genetic skin vascular disorder' + 'Malignant atrophic papulosis' SubClassOf 'disease' + 'Malignant atrophic papulosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_658549 Label(s): Idiopathic small fibers neuropathy - 'Idiopathic small fibers neuropathy' SubClassOf 'disorder' - 'Idiopathic small fibers neuropathy' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' - 'Idiopathic small fibers neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658540 Label(s): 16q22 deletion syndrome - '16q22 deletion syndrome' SubClassOf 'disease' - '16q22 deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '16q22 deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - '16q22 deletion syndrome' SubClassOf 'disorder' - '16q22 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_656326 Label(s): Autosomal recessive combined immunodeficiency due to IL6R deficiency - 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'disorder' - 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_656313 Label(s): Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency - 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disease' - 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_122879 Label(s): KRAS proto-oncogene, GTPase + 'KRAS proto-oncogene, GTPase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357194 + 'KRAS proto-oncogene, GTPase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357191 Class: http://www.orpha.net/ORDO/Orphanet_122862 Label(s): KIT proto-oncogene, receptor tyrosine kinase + 'KIT proto-oncogene, receptor tyrosine kinase' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_544260 Class: http://www.orpha.net/ORDO/Orphanet_120648 Label(s): CLN8 transmembrane ER and ERGIC protein - 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN8 transmembrane ER and ERGIC protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE : CLN8 disease' Class: http://www.orpha.net/ORDO/Orphanet_120643 Label(s): CLN6 transmembrane ER protein - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN6 disease' + 'CLN6 transmembrane ER protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN4A disease' Class: http://www.orpha.net/ORDO/Orphanet_120641 Label(s): CLN5 intracellular trafficking protein - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' + 'CLN5 intracellular trafficking protein' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN5 disease' Class: http://www.orpha.net/ORDO/Orphanet_120638 Label(s): CLN3 lysosomal/endosomal transmembrane protein, battenin - 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'CLN3 lysosomal/endosomal transmembrane protein, battenin' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN3 disease' Class: http://www.orpha.net/ORDO/Orphanet_104 Label(s): Leber hereditary optic neuropathy + 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' + 'Leber hereditary optic neuropathy' SubClassOf 'part_of' some 'Mitochondrial disease with dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_656283 Label(s): Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'disorder' - 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'disease' - 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'part_of' some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_656279 Label(s): 1p36.33 duplication syndrome - '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 1' - '1p36.33 duplication syndrome' SubClassOf 'disease' - '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' - '1p36.33 duplication syndrome' SubClassOf 'disorder' - '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder' - '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_656273 Label(s): Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'disorder' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic autonomic nervous system disorder' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'Clinical syndrome' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' - 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_221346 Label(s): NRAS proto-oncogene, GTPase + 'NRAS proto-oncogene, GTPase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357194 + 'NRAS proto-oncogene, GTPase' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_544260 Class: http://www.orpha.net/ORDO/Orphanet_309239 Label(s): OBSELETE:Tay-Sachs disease, B1 variant - 'OBSELETE:Tay-Sachs disease, B1 variant' SubClassOf 'obsolete subtype of disorder' + 'OBSELETE:Tay-Sachs disease, B1 variant' SubClassOf 'part_of' some 'Tay-Sachs disease' + 'OBSELETE:Tay-Sachs disease, B1 variant' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_228343 Label(s): OBSOLETE: CLN4B disease - 'OBSOLETE: CLN4B disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN4B disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN4B disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN4B disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_242 Label(s): 46,XY complete gonadal dysgenesis + '46,XY complete gonadal dysgenesis' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_2194 Label(s): OBSOLETE: Anti-HLA hyperimmunization - 'OBSOLETE: Anti-HLA hyperimmunization' SubClassOf 'obsolete disorder' - 'OBSOLETE: Anti-HLA hyperimmunization' SubClassOf 'Referred to' some 'Rare immune disease' + 'OBSOLETE: Anti-HLA hyperimmunization' SubClassOf 'disorder' + 'OBSOLETE: Anti-HLA hyperimmunization' SubClassOf 'disease' + 'OBSOLETE: Anti-HLA hyperimmunization' SubClassOf 'part_of' some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_656135 Label(s): Intellectual disability-cupped ears syndrome - 'Intellectual disability-cupped ears syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-cupped ears syndrome' SubClassOf 'disorder' - 'Intellectual disability-cupped ears syndrome' SubClassOf 'disease' - 'Intellectual disability-cupped ears syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_656130 Label(s): PBX1-related congenital anomalies of kidney and urinary tract syndrome - 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' - 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'disease' - 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'disorder' - 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_656126 Label(s): Segmental spinal dysgenesis - 'Segmental spinal dysgenesis' SubClassOf 'disease' - 'Segmental spinal dysgenesis' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' - 'Segmental spinal dysgenesis' SubClassOf 'disorder' - 'Segmental spinal dysgenesis' SubClassOf 'part_of' some 'Closed spinal dysraphism' Class: http://www.orpha.net/ORDO/Orphanet_228360 Label(s): OBSOLETE: CLN5 disease - 'OBSOLETE: CLN5 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN5 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN5 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN5 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_314629 Label(s): OBSOLETE: CLN11 disease - 'OBSOLETE: CLN11 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN11 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN11 disease' SubClassOf 'subtype of a disorder' + 'OBSOLETE: CLN11 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_168984 Label(s): CLAPO syndrome - 'CLAPO syndrome' SubClassOf 'part_of' some 'PIK3CA-related overgrowth syndrome' + 'CLAPO syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169446 Label(s): OBSOLETE: Autosomal recessive hyper-IgE syndrome - 'OBSOLETE: Autosomal recessive hyper-IgE syndrome' SubClassOf 'Referred to' some 'Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency' + 'OBSOLETE: Autosomal recessive hyper-IgE syndrome' SubClassOf 'Referred to' some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241992 Label(s): catechol-O-methyltransferase + 'catechol-O-methyltransferase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_284121 + 'catechol-O-methyltransferase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240863 Class: http://www.orpha.net/ORDO/Orphanet_123263 Label(s): mutL homolog 1 + 'mutL homolog 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_656085 Label(s): Benign atrophic papulosis - 'Benign atrophic papulosis' SubClassOf 'subtype of a disorder' - 'Benign atrophic papulosis' SubClassOf 'part_of' some 'Atrophic papulosis' Class: http://www.orpha.net/ORDO/Orphanet_656071 Label(s): Atrophic papulosis - 'Atrophic papulosis' SubClassOf 'disease' - 'Atrophic papulosis' SubClassOf 'disorder' - 'Atrophic papulosis' SubClassOf 'part_of' some 'Skin vascular disease' - 'Atrophic papulosis' SubClassOf 'part_of' some 'Genetic skin vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_658913 Label(s): Paragonimiasis - 'Paragonimiasis' SubClassOf 'part_of' some 'Distomatosis' - 'Paragonimiasis' SubClassOf 'disorder' - 'Paragonimiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120380 Label(s): UDP glucuronosyltransferase family 1 member A1 + 'UDP glucuronosyltransferase family 1 member A1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240885 + 'UDP glucuronosyltransferase family 1 member A1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240905 Class: http://www.orpha.net/ORDO/Orphanet_653698 Label(s): Lymphocytic mastitis - 'Lymphocytic mastitis' SubClassOf 'part_of' some 'Rare non-malformative breast disease' - 'Lymphocytic mastitis' SubClassOf 'disorder' - 'Lymphocytic mastitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_292693 Label(s): KiSS-1 metastasis suppressor - 'KiSS-1 metastasis suppressor' SubClassOf 'disease-causing germline mutation(s) in' some 'Genetic central precocious puberty in male' - 'KiSS-1 metastasis suppressor' SubClassOf 'disease-causing germline mutation(s) in' some 'Genetic central precocious puberty in female' Class: http://www.orpha.net/ORDO/Orphanet_404463 Label(s): Multisystemic smooth muscle dysfunction syndrome - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Syndrome with pulmonary hypertension as a major feature' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare disorder of the pupil' - 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'part_of' some 'Rare genetic disorder of the pupil' Class: http://www.orpha.net/ORDO/Orphanet_653767 Label(s): Jansen-de Vries syndrome - 'Jansen-de Vries syndrome' SubClassOf 'disease' - 'Jansen-de Vries syndrome' SubClassOf 'disorder' - 'Jansen-de Vries syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Jansen-de Vries syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_284116 Label(s): inosine triphosphatase + 'inosine triphosphatase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_413687 Class: http://www.orpha.net/ORDO/Orphanet_653751 Label(s): X-linked combined immunodeficiency due to SASH3 deficiency - 'X-linked combined immunodeficiency due to SASH3 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' - 'X-linked combined immunodeficiency due to SASH3 deficiency' SubClassOf 'disease' - 'X-linked combined immunodeficiency due to SASH3 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_653728 Label(s): Congenital insensitivity to pain syndrome, Marsili type - 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' - 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'disease' - 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'disorder' - 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_653722 Label(s): Digenic Alport syndrome - 'Digenic Alport syndrome' SubClassOf 'subtype of a disorder' - 'Digenic Alport syndrome' SubClassOf 'part_of' some 'Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_653712 Label(s): CHD4-related neurodevelopmental disorder - 'CHD4-related neurodevelopmental disorder' SubClassOf 'disorder' - 'CHD4-related neurodevelopmental disorder' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'CHD4-related neurodevelopmental disorder' SubClassOf 'disease' - 'CHD4-related neurodevelopmental disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_653709 Label(s): Cone rod dystrophy-short stature syndrome - 'Cone rod dystrophy-short stature syndrome' SubClassOf 'disorder' - 'Cone rod dystrophy-short stature syndrome' SubClassOf 'disease' - 'Cone rod dystrophy-short stature syndrome' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_658909 Label(s): Fasciolopsiasis - 'Fasciolopsiasis' SubClassOf 'disease' - 'Fasciolopsiasis' SubClassOf 'disorder' - 'Fasciolopsiasis' SubClassOf 'part_of' some 'Distomatosis' Class: http://www.orpha.net/ORDO/Orphanet_2332 Label(s): KBG syndrome - 'KBG syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_121171 Label(s): dihydropyrimidine dehydrogenase + 'dihydropyrimidine dehydrogenase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240839 Class: http://www.orpha.net/ORDO/Orphanet_653725 Label(s): Autosomal recessive limb-girdle muscular dystrophy, type 28 - 'Autosomal recessive limb-girdle muscular dystrophy, type 28' SubClassOf 'disease' - 'Autosomal recessive limb-girdle muscular dystrophy, type 28' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' - 'Autosomal recessive limb-girdle muscular dystrophy, type 28' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_120236 Label(s): tripeptidyl peptidase 1 - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' + 'tripeptidyl peptidase 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'OBSOLETE: CLN2 disease' Class: http://www.orpha.net/ORDO/Orphanet_122402 Label(s): hexosaminidase subunit alpha + 'hexosaminidase subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSELETE:Tay-Sachs disease, B1 variant' Class: http://www.orpha.net/ORDO/Orphanet_324307 Label(s): Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome - 'Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome' SubClassOf 'malformation syndrome' + 'Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_123487 Label(s): mutS homolog 2 + 'mutS homolog 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_495724 Label(s): WD repeat domain 1 - 'WD repeat domain 1' SubClassOf 'gene with protein product' - 'WD repeat domain 1' SubClassOf 'has_chromosomal location' value "4p16.1" - 'WD repeat domain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_356180 Label(s): cathepsin F - 'cathepsin F' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' + 'cathepsin F' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN13 disease' Class: http://www.orpha.net/ORDO/Orphanet_122364 Label(s): hepcidin antimicrobial peptide - 'hepcidin antimicrobial peptide' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'HJV or HAMP-related hemochromatosis' + 'hepcidin antimicrobial peptide' SubClassOf 'disease-causing germline mutation(s) in' some 'HJV or HAMP-related hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label(s): BRCA2 DNA repair associated - 'BRCA2 DNA repair associated' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' + 'BRCA2 DNA repair associated' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_618572 Class: http://www.orpha.net/ORDO/Orphanet_138895 Label(s): mitochondrially encoded tRNA-Leu (UUA/G) 1 + 'mitochondrially encoded tRNA-Leu (UUA/G) 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' Class: http://www.orpha.net/ORDO/Orphanet_121311 Label(s): epidermal growth factor receptor + 'epidermal growth factor receptor' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357191 Class: http://www.orpha.net/ORDO/Orphanet_356190 Label(s): DNA polymerase epsilon, catalytic subunit - 'DNA polymerase epsilon, catalytic subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_123585 Label(s): mutY DNA glycosylase - 'mutY DNA glycosylase' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_241999 Label(s): solute carrier organic anion transporter family member 1B1 + 'solute carrier organic anion transporter family member 1B1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_413696 Class: http://www.orpha.net/ORDO/Orphanet_653915 Label(s): zinc finger homeobox 2 - 'zinc finger homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital insensitivity to pain syndrome, Marsili type' - 'zinc finger homeobox 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_306511 Label(s): Autosomal recessive spastic paraplegia type 48 + 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_641385 Label(s): PASS syndrome - 'PASS syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' + 'PASS syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PASS syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'PASS syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PASS syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_641380 Label(s): PAPASH syndrome - 'PAPASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' - 'PAPASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PAPASH syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_251883 Label(s): Medulloepithelioma of the central nervous system - 'Medulloepithelioma of the central nervous system' SubClassOf 'Moved to' some 'Embryonal tumor with multilayered rosettes' - 'Medulloepithelioma of the central nervous system' SubClassOf 'deprecated disorder' + 'Medulloepithelioma of the central nervous system' SubClassOf 'disease' + 'Medulloepithelioma of the central nervous system' SubClassOf 'disorder' + 'Medulloepithelioma of the central nervous system' SubClassOf 'part_of' some 'Central nervous system embryonal tumor' Class: http://www.orpha.net/ORDO/Orphanet_251880 Label(s): Ependymoblastoma - 'Ependymoblastoma' SubClassOf 'deprecated disorder' - 'Ependymoblastoma' SubClassOf 'Moved to' some 'Embryonal tumor with multilayered rosettes' + 'Ependymoblastoma' SubClassOf 'disorder' + 'Ependymoblastoma' SubClassOf 'part_of' some 'Central nervous system embryonal tumor' + 'Ependymoblastoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_34145 Label(s): Immunoglobulin A nephropathy - 'Immunoglobulin A nephropathy' SubClassOf 'disorder' - 'Immunoglobulin A nephropathy' SubClassOf 'disease' - 'Immunoglobulin A nephropathy' SubClassOf 'part_of' some 'Glomerular disease' + 'Immunoglobulin A nephropathy' SubClassOf 'non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_1685 Label(s): Distomatosis - 'Distomatosis' SubClassOf 'group of disorders' - 'Distomatosis' SubClassOf 'Rare parasitic disease' + 'Distomatosis' SubClassOf 'disorder' + 'Distomatosis' SubClassOf 'part_of' some 'Rare parasitic disease' + 'Distomatosis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_120065 Label(s): transforming growth factor beta receptor 1 - 'transforming growth factor beta receptor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Marfan syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_120052 Label(s): transforming growth factor beta 2 - 'transforming growth factor beta 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_93618 Label(s): Rare cause of hypertension + 'Rare cause of hypertension' SubClassOf 'Rare circulatory system disease' Class: http://www.orpha.net/ORDO/Orphanet_653434 Label(s): Autoinflammatory syndrome with acne and/or hidradenitis suppurativa - 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Pyogenic autoinflammatory syndrome' - 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Autoinflammatory syndrome with skin involvement' - 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_658805 Label(s): Greig cephalopolysyndactyly-contiguous gene syndrome - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 7' - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Ciliopathy' - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'disease' - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'disorder' - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' - 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_138722 Label(s): Raf-1 proto-oncogene, serine/threonine kinase - 'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'part of a fusion gene in' some 'Large congenital melanocytic nevus' Class: http://www.orpha.net/ORDO/Orphanet_658813 Label(s): Methylenetetrahydrofolate dehydrogenase 1 deficiency - 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' - 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'disorder' - 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'disease' - 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_260331 Label(s): SMAD family member 3 - 'SMAD family member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_656300 Label(s): Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency - 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disease' - 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disorder' - 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119394 Label(s): checkpoint kinase 2 - 'checkpoint kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_117820 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'CLAPO syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_357191 Class: http://www.orpha.net/ORDO/Orphanet_241969 Label(s): thymidylate synthetase + 'thymidylate synthetase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240839 Class: http://www.orpha.net/ORDO/Orphanet_1795 Label(s): OBSOLETE: Peripheral dysostosis - 'OBSOLETE: Peripheral dysostosis' SubClassOf 'obsolete disorder' + 'OBSOLETE: Peripheral dysostosis' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'OBSOLETE: Peripheral dysostosis' SubClassOf 'malformation syndrome' + 'OBSOLETE: Peripheral dysostosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_902 Label(s): Werner syndrome - 'Werner syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Werner syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_658917 Label(s): Clonorchiasis - 'Clonorchiasis' SubClassOf 'disorder' - 'Clonorchiasis' SubClassOf 'disease' - 'Clonorchiasis' SubClassOf 'part_of' some 'Distomatosis' Class: http://www.orpha.net/ORDO/Orphanet_471112 Label(s): SMAD family member 2 - 'SMAD family member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_209951 Label(s): Autosomal spastic paraplegia type 18 - 'Autosomal spastic paraplegia type 18' SubClassOf 'part_of' some 'Pure or complex autosomal dominant spastic paraplegia' + 'Autosomal spastic paraplegia type 18' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia' + 'Autosomal spastic paraplegia type 18' SubClassOf 'part_of' some 'Autosomal dominant complex spastic paraplegia' Class: http://www.orpha.net/ORDO/Orphanet_617919 Label(s): F12-associated cold autoinflammatory syndrome - 'F12-associated cold autoinflammatory syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' - 'F12-associated cold autoinflammatory syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' - 'F12-associated cold autoinflammatory syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' + 'F12-associated cold autoinflammatory syndrome' SubClassOf 'part_of' some 'NLRP3-associated autoinflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_119048 Label(s): bone morphogenetic protein receptor type 1A - 'bone morphogenetic protein receptor type 1A' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' + 'bone morphogenetic protein receptor type 1A' SubClassOf 'candidate gene tested in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_228349 Label(s): OBSOLETE: CLN2 disease - 'OBSOLETE: CLN2 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN2 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN2 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN2 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN2 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_1303 Label(s): Bronchiolitis obliterans - 'Bronchiolitis obliterans' SubClassOf 'Rare pulmonary disease' - 'Bronchiolitis obliterans' SubClassOf 'Rare disorder potentially indicated for lung transplant' - 'Bronchiolitis obliterans' SubClassOf 'group of disorders' + 'Bronchiolitis obliterans' SubClassOf 'disease' + 'Bronchiolitis obliterans' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Bronchiolitis obliterans' SubClassOf 'part_of' some 'Rare disorder potentially indicated for lung transplant' + 'Bronchiolitis obliterans' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_641390 Label(s): PsAPASH syndrome - 'PsAPASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PsAPASH syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_117728 Label(s): angiotensin I converting enzyme - 'angiotensin I converting enzyme' SubClassOf 'candidate gene tested in' some 'Immunoglobulin A nephropathy' Class: http://www.orpha.net/ORDO/Orphanet_228366 Label(s): OBSOLETE: CLN7 disease - 'OBSOLETE: CLN7 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN7 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN7 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN7 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_228363 Label(s): OBSOLETE: CLN6 disease - 'OBSOLETE: CLN6 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN6 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN6 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN6 disease' SubClassOf 'subtype of a disorder' + 'OBSOLETE: CLN6 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_228354 Label(s): OBSOLETE : CLN8 disease - 'OBSOLETE : CLN8 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE : CLN8 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE : CLN8 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'OBSOLETE : CLN8 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' + 'OBSOLETE : CLN8 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_228346 Label(s): OBSOLETE: CLN3 disease - 'OBSOLETE: CLN3 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN3 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN3 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN3 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_471062 Label(s): SIN3 transcription regulator family member A - 'SIN3 transcription regulator family member A' SubClassOf 'disease-causing germline mutation(s) in' some 'Witteveen-Kolk syndrome' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label(s): OBSOLETE: CLN10 disease - 'OBSOLETE: CLN10 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN10 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN10 disease' SubClassOf 'subtype of a disorder' + 'OBSOLETE: CLN10 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN10 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN10 disease' SubClassOf 'part_of' some 'Congenital neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN10 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_228329 Label(s): OBSOLETE: CLN1 disease - 'OBSOLETE: CLN1 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN1 disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN1 disease' SubClassOf 'part_of' some 'Late infantile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN1 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN1 disease' SubClassOf 'subtype of a disorder' + 'OBSOLETE: CLN1 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN1 disease' SubClassOf 'part_of' some 'Infantile neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_123492 Label(s): mutS homolog 6 + 'mutS homolog 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Muir-Torre syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168073 Label(s): granulin precursor - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' + 'granulin precursor' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN11 disease' Class: http://www.orpha.net/ORDO/Orphanet_793 Label(s): SAPHO syndrome - 'SAPHO syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' + 'SAPHO syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' + 'SAPHO syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_124046 Label(s): purinergic receptor P2Y12 + 'purinergic receptor P2Y12' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240935 Class: http://www.orpha.net/ORDO/Orphanet_97598 Label(s): Congenital renal artery stenosis - 'Congenital renal artery stenosis' SubClassOf 'part_of' some 'Rare vascular malformation of major vessels' Class: http://www.orpha.net/ORDO/Orphanet_123201 Label(s): MET proto-oncogene, receptor tyrosine kinase + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_357191 Class: http://www.orpha.net/ORDO/Orphanet_657 Label(s): Congenital isolated hyperinsulinism + 'Congenital isolated hyperinsulinism' SubClassOf 'Overgrowth syndrome' Class: http://www.orpha.net/ORDO/Orphanet_658946 Label(s): Early-onset autoimmune disorder due to DOCK11 partial deficiency - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'disease' - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'disorder' - 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119066 Label(s): B-Raf proto-oncogene, serine/threonine kinase - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'part of a fusion gene in' some 'Large congenital melanocytic nevus' - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Large congenital melanocytic nevus' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357194 + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357191 + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_544260 Class: http://www.orpha.net/ORDO/Orphanet_2183 Label(s): Hydrocephalus-obesity-hypogonadism syndrome - 'Hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_652816 Label(s): serine/arginine repetitive matrix 2 - 'serine/arginine repetitive matrix 2' SubClassOf 'gene with protein product' - 'serine/arginine repetitive matrix 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_261190 Label(s): Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - 'Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion' SubClassOf 'part_of' some 'Cleft palate-congenital heart defect-intellectual disability syndrome' - 'Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion' SubClassOf 'subtype of a disorder' + 'Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion' SubClassOf 'disorder' + 'Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_587 Label(s): Muir-Torre syndrome - 'Muir-Torre syndrome' SubClassOf 'deprecated disorder' - 'Muir-Torre syndrome' SubClassOf 'Moved to' some 'Lynch syndrome' + 'Muir-Torre syndrome' SubClassOf 'disorder' + 'Muir-Torre syndrome' SubClassOf 'disease' + 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Genetic skin tumor or hamartoma' + 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Hereditary nonpolyposis colon cancer' + 'Muir-Torre syndrome' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_437674 Label(s): protein phosphatase, Mg2+/Mn2+ dependent 1D - 'protein phosphatase, Mg2+/Mn2+ dependent 1D' SubClassOf 'disease-causing germline mutation(s) in' some 'Jansen-de Vries syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118274 Label(s): ret proto-oncogene + 'ret proto-oncogene' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_357191 Class: http://www.orpha.net/ORDO/Orphanet_167854 Label(s): forkhead box G1 - 'forkhead box G1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'FOXG1 syndrome due to intragenic alteration' - 'forkhead box G1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' + 'forkhead box G1' SubClassOf 'role in the phenotype of' some '14q11.2 microduplication syndrome' Class: http://www.orpha.net/ORDO/Orphanet_656912 Label(s): Autosomal dominant combined immunodeficiency due to ERBIN deficiency - 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'disorder' - 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' - 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' - 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' - 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_652514 Label(s): Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation - 'Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation' SubClassOf 'part_of' some 'Cleft palate-congenital heart defect-intellectual disability syndrome' - 'Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_652519 Label(s): Cleft palate-congenital heart defect-intellectual disability syndrome - 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'disorder' - 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_652528 Label(s): Non-syndromic supernumerary kidneys - 'Non-syndromic supernumerary kidneys' SubClassOf 'Morphological anomaly' - 'Non-syndromic supernumerary kidneys' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' - 'Non-syndromic supernumerary kidneys' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_279781 Label(s): DnaJ heat shock protein family (Hsp40) member C5 - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' + 'DnaJ heat shock protein family (Hsp40) member C5' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN4B disease' Class: http://www.orpha.net/ORDO/Orphanet_121474 Label(s): ATM serine/threonine kinase - 'ATM serine/threonine kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_426564 Label(s): enoyl-CoA hydratase, short chain 1 - 'enoyl-CoA hydratase, short chain 1' SubClassOf 'has_chromosomal location' value "10q26.3" - 'enoyl-CoA hydratase, short chain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' - 'enoyl-CoA hydratase, short chain 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_652678 Label(s): Primary inferior vena cava aneurysm - 'Primary inferior vena cava aneurysm' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' - 'Primary inferior vena cava aneurysm' SubClassOf 'disorder' - 'Primary inferior vena cava aneurysm' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_652650 Label(s): Nodal T-follicular helper cell lymphoma, follicular type - 'Nodal T-follicular helper cell lymphoma, follicular type' SubClassOf 'disease' - 'Nodal T-follicular helper cell lymphoma, follicular type' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' - 'Nodal T-follicular helper cell lymphoma, follicular type' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_120054 Label(s): transforming growth factor beta 3 - 'transforming growth factor beta 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Loeys-Dietz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_380 Label(s): Greig cephalopolysyndactyly syndrome - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' - 'Greig cephalopolysyndactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Greig cephalopolysyndactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Greig cephalopolysyndactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_658810 Label(s): Atrophoderma of Pasini and Pierini - 'Atrophoderma of Pasini and Pierini' SubClassOf 'part_of' some 'Other dermis disorder' - 'Atrophoderma of Pasini and Pierini' SubClassOf 'disease' - 'Atrophoderma of Pasini and Pierini' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_118998 Label(s): butyrylcholinesterase + 'butyrylcholinesterase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_413693 Class: http://www.orpha.net/ORDO/Orphanet_594670 Label(s): SAM and SH3 domain containing 3 - 'SAM and SH3 domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked combined immunodeficiency due to SASH3 deficiency' - 'SAM and SH3 domain containing 3' SubClassOf 'gene with protein product' - 'SAM and SH3 domain containing 3' SubClassOf 'has_chromosomal location' value "Xq26.1" Class: http://www.orpha.net/ORDO/Orphanet_652658 Label(s): Monomorphic epitheliotropic intestinal T-cell lymphoma - 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'part_of' some 'Rare tumor of small intestine' - 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'disorder' - 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'disease' - 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_652668 Label(s): Primary superior vena cava aneurysm - 'Primary superior vena cava aneurysm' SubClassOf 'disorder' - 'Primary superior vena cava aneurysm' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' - 'Primary superior vena cava aneurysm' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123529 Label(s): methylenetetrahydrofolate reductase + 'methylenetetrahydrofolate reductase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_565785 Class: http://www.orpha.net/ORDO/Orphanet_119068 Label(s): BRCA1 DNA repair associated + 'BRCA1 DNA repair associated' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_618572 Class: http://www.orpha.net/ORDO/Orphanet_652532 Label(s): Adult-onset progressive leukoencephalopathy-early-onset deafness - 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'part_of' some 'Leukodystrophy' - 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'disease' - 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' - 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_652522 Label(s): Periodic fever-immunodeficiency-thrombocytopenia syndrome - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'disease' - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Syndromic constitutional thrombocytopenia' - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'disorder' - 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' Class: http://www.orpha.net/ORDO/Orphanet_652510 Label(s): Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa - 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Genetic autoinflammatory syndrome with skin involvement' - 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Rare hereditary autoinflammatory disease' - 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_266 Label(s): Autosomal dominant limb-girdle muscular dystrophy type 1A + 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'part_of' some 'Autosomal dominant limb-girdle muscular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_117978 Label(s): palmitoyl-protein thioesterase 1 - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' + 'palmitoyl-protein thioesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN1 disease' Class: http://www.orpha.net/ORDO/Orphanet_218376 Label(s): major histocompatibility complex, class I, A + 'major histocompatibility complex, class I, A' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_414750 + 'major histocompatibility complex, class I, A' SubClassOf 'candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_619246 Class: http://www.orpha.net/ORDO/Orphanet_658584 Label(s): Rowell syndrome - 'Rowell syndrome' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Rowell syndrome' SubClassOf 'part_of' some 'Autoimmune disease with skin involvement' - 'Rowell syndrome' SubClassOf 'disease' - 'Rowell syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_289478 Label(s): PASH syndrome - 'PASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' - 'PASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' + 'PASH syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PASH syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PASH syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PASH syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_652487 Label(s): Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'disorder' - 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Syndromic obesity' - 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'malformation syndrome' - 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_138900 Label(s): mitochondrially encoded tRNA-Lys (AAA/G) + 'mitochondrially encoded tRNA-Lys (AAA/G)' SubClassOf 'disease-causing germline mutation(s) in' some 'Maternally-inherited diabetes and deafness' Class: http://www.orpha.net/ORDO/Orphanet_122422 Label(s): major histocompatibility complex, class I, B + 'major histocompatibility complex, class I, B' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_414750 + 'major histocompatibility complex, class I, B' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240845 + 'major histocompatibility complex, class I, B' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240871 + 'major histocompatibility complex, class I, B' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_240841 Class: http://www.orpha.net/ORDO/Orphanet_221083 Label(s): Hemifacial spasm - 'Hemifacial spasm' SubClassOf 'part_of' some 'Primary myoclonus' + 'Hemifacial spasm' SubClassOf 'part_of' some 'Acquired peripheral movement disorder' Class: http://www.orpha.net/ORDO/Orphanet_228340 Label(s): OBSOLETE: CLN4A disease - 'OBSOLETE: CLN4A disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' - 'OBSOLETE: CLN4A disease' SubClassOf 'obsolete subtype of disorder' + 'OBSOLETE: CLN4A disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN4A disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_228357 Label(s): OBSOLETE: CLN9 disease - 'OBSOLETE: CLN9 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN9 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN9 disease' SubClassOf 'part_of' some 'Juvenile neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN9 disease' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_653880 Label(s): Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'disorder' - 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'part_of' some 'Cerebral organic aciduria' - 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658951 Label(s): Early-onset immune dysregulation due to DOCK11 complete deficiency - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Rare rheumatologic disease' - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'disease' - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'disorder' - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' Class: http://www.orpha.net/ORDO/Orphanet_652681 Label(s): Idiopathic subglottic stenosis - 'Idiopathic subglottic stenosis' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' - 'Idiopathic subglottic stenosis' SubClassOf 'disease' - 'Idiopathic subglottic stenosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_303176 Label(s): piezo type mechanosensitive ion channel component 1 - 'piezo type mechanosensitive ion channel component 1' SubClassOf 'disease-causing germline mutation(s) in' some 'PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis' Class: http://www.orpha.net/ORDO/Orphanet_352709 Label(s): OBSOLETE: CLN13 disease - 'OBSOLETE: CLN13 disease' SubClassOf 'obsolete subtype of disorder' - 'OBSOLETE: CLN13 disease' SubClassOf 'Referred to' some 'Neuronal ceroid lipofuscinosis' + 'OBSOLETE: CLN13 disease' SubClassOf 'subtype of a disorder' + 'OBSOLETE: CLN13 disease' SubClassOf 'part_of' some 'Adult neuronal ceroid lipofuscinosis' Class: http://www.orpha.net/ORDO/Orphanet_436832 Label(s): oxoglutarate dehydrogenase - 'oxoglutarate dehydrogenase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Oxoglutaric aciduria' + 'oxoglutarate dehydrogenase' SubClassOf 'candidate gene tested in' some 'Oxoglutaric aciduria' Class: http://www.orpha.net/ORDO/Orphanet_365133 Label(s): DNA polymerase delta 1, catalytic subunit - 'DNA polymerase delta 1, catalytic subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial colorectal cancer Type X' Class: http://www.orpha.net/ORDO/Orphanet_160020 Label(s): ALK receptor tyrosine kinase + 'ALK receptor tyrosine kinase' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_357191 Class: http://www.orpha.net/ORDO/Orphanet_658843 Label(s): Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'disease' - 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'disorder' - 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_2346 Label(s): Angioosteohypertrophic syndrome + 'Angioosteohypertrophic syndrome' SubClassOf 'Syndromic genetic cataract' + 'Angioosteohypertrophic syndrome' SubClassOf 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_2714 Label(s): Oculo-palato-cerebral syndrome - 'Oculo-palato-cerebral syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Oculo-palato-cerebral syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' Class: http://www.orpha.net/ORDO/Orphanet_159521 Label(s): major facilitator superfamily domain containing 8 - 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' - 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' + 'major facilitator superfamily domain containing 8' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN7 disease' Class: http://www.orpha.net/ORDO/Orphanet_658778 Label(s): COQ7-related distal hereditary motor neuropathy - 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' - 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'disorder' - 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'disease' - 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_119486 Label(s): solute carrier family 40 member 1 - 'solute carrier family 40 member 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'SLC40A1-related hemochromatosis' + 'solute carrier family 40 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'SLC40A1-related hemochromatosis' Class: http://www.orpha.net/ORDO/Orphanet_470084 Label(s): chromodomain helicase DNA binding protein 4 - 'chromodomain helicase DNA binding protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'CHD4-related neurodevelopmental disorder' - 'chromodomain helicase DNA binding protein 4' SubClassOf 'has_chromosomal location' value "12p13.31" - 'chromodomain helicase DNA binding protein 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_159489 Label(s): cathepsin D - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Adult neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile neuronal ceroid lipofuscinosis' - 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'Late infantile neuronal ceroid lipofuscinosis' + 'cathepsin D' SubClassOf 'disease-causing germline mutation(s) in' some 'OBSOLETE: CLN10 disease' Class: http://www.orpha.net/ORDO/Orphanet_159472 Label(s): vitamin K epoxide reductase complex subunit 1 + 'vitamin K epoxide reductase complex subunit 1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_413674 + 'vitamin K epoxide reductase complex subunit 1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_413684 Class: http://www.orpha.net/ORDO/Orphanet_69126 Label(s): PAPA syndrome - 'PAPA syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' - 'PAPA syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' + 'PAPA syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' + 'PAPA syndrome' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'PAPA syndrome' SubClassOf 'part_of' some 'Genetic autoinflammatory syndrome with skin involvement' + 'PAPA syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' + 'PAPA syndrome' SubClassOf 'part_of' some 'Pyogenic autoinflammatory syndrome' Class: http://www.orpha.net/ORDO/Orphanet_618952 Label(s): 3-hydroxy-3-methylglutaryl-CoA reductase - '3-hydroxy-3-methylglutaryl-CoA reductase' SubClassOf 'has_chromosomal location' value "5q13.3" - '3-hydroxy-3-methylglutaryl-CoA reductase' SubClassOf 'gene with protein product' - '3-hydroxy-3-methylglutaryl-CoA reductase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy, type 28' Class: http://www.orpha.net/ORDO/Orphanet_656417 Label(s): Embryonal tumor with multilayered rosettes - 'Embryonal tumor with multilayered rosettes' SubClassOf 'disorder' - 'Embryonal tumor with multilayered rosettes' SubClassOf 'part_of' some 'Central nervous system embryonal tumor' - 'Embryonal tumor with multilayered rosettes' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658612 Label(s): Non-transplant-related bronchiolitis obliterans - 'Non-transplant-related bronchiolitis obliterans' SubClassOf 'disorder' - 'Non-transplant-related bronchiolitis obliterans' SubClassOf 'part_of' some 'Bronchiolitis obliterans' - 'Non-transplant-related bronchiolitis obliterans' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658602 Label(s): Transplant-related bronchiolitis obliterans - 'Transplant-related bronchiolitis obliterans' SubClassOf 'disorder' - 'Transplant-related bronchiolitis obliterans' SubClassOf 'disease' - 'Transplant-related bronchiolitis obliterans' SubClassOf 'part_of' some 'Bronchiolitis obliterans' Class: http://www.orpha.net/ORDO/Orphanet_120722 Label(s): collagen type IV alpha 5 chain - 'collagen type IV alpha 5 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Digenic Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120720 Label(s): collagen type IV alpha 4 chain - 'collagen type IV alpha 4 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Digenic Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120718 Label(s): collagen type IV alpha 3 chain - 'collagen type IV alpha 3 chain' SubClassOf 'disease-causing germline mutation(s) in' some 'Digenic Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2330 Label(s): Kasabach-Merritt phenomenon - 'Kasabach-Merritt phenomenon' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Kasabach-Merritt phenomenon' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658595 Label(s): DNMT3A-related microcephalic dwarfism - 'DNMT3A-related microcephalic dwarfism' SubClassOf 'malformation syndrome' - 'DNMT3A-related microcephalic dwarfism' SubClassOf 'disorder' - 'DNMT3A-related microcephalic dwarfism' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_658590 Label(s): Eyelid sebaceous carcinoma - 'Eyelid sebaceous carcinoma' SubClassOf 'part_of' some 'Rare eye tumor' - 'Eyelid sebaceous carcinoma' SubClassOf 'disorder' - 'Eyelid sebaceous carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658574 Label(s): Isolated pulmonary artery sling - 'Isolated pulmonary artery sling' SubClassOf 'disorder' - 'Isolated pulmonary artery sling' SubClassOf 'part_of' some 'Abnormal origin of the pulmonary artery' - 'Isolated pulmonary artery sling' SubClassOf 'Morphological anomaly' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_241005 Label(s): OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment + 'OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment' SubClassOf 'Referred to' some 'Prediction of abacavir toxicity' + 'OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_120231 Label(s): thiopurine S-methyltransferase + 'thiopurine S-methyltransferase' SubClassOf 'biomarker tested in' some 'Prediction of cisplatin toxicity' + 'thiopurine S-methyltransferase' SubClassOf 'gene with protein product' + 'thiopurine S-methyltransferase' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'thiopurine S-methyltransferase' SubClassOf 'has_chromosomal location' value "6p22.3" Class: http://www.orpha.net/ORDO/Orphanet_529825 Label(s): Prediction of resistance to colchicine + 'Prediction of resistance to colchicine' SubClassOf 'disorder' + 'Prediction of resistance to colchicine' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_529828 Label(s): Prediction of enzalutamide toxicity + 'Prediction of enzalutamide toxicity' SubClassOf 'disorder' + 'Prediction of enzalutamide toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_413667 Label(s): Prediction of toxicity or dose selection of antidepressants or antipsychotics + 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_562522 Label(s): Prediction of response to monoclonal antibody treatment + 'Prediction of response to monoclonal antibody treatment' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of response to monoclonal antibody treatment' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_565785 Label(s): Methotrexate dose selection + 'Methotrexate dose selection' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Methotrexate dose selection' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_574671 Label(s): Prediction of toxicity or dose selection of belinostat + 'Prediction of toxicity or dose selection of belinostat' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of toxicity or dose selection of belinostat' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_413696 Label(s): Prediction of statin toxicity + 'Prediction of statin toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of statin toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_413690 Label(s): OBSOLETE: Methotrexate toxicity or dose selection + 'OBSOLETE: Methotrexate toxicity or dose selection' SubClassOf 'Referred to' some 'Methotrexate dose selection' + 'OBSOLETE: Methotrexate toxicity or dose selection' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_413687 Label(s): Prediction of toxicity or dose selection of thiopurine drugs + 'Prediction of toxicity or dose selection of thiopurine drugs' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of toxicity or dose selection of thiopurine drugs' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_413684 Label(s): Prediction of resistance to vitamin K antagonists + 'Prediction of resistance to vitamin K antagonists' SubClassOf 'disorder' + 'Prediction of resistance to vitamin K antagonists' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_413681 Label(s): Prediction of toxicity or dose selection of oral antidiabetic drugs + 'Prediction of toxicity or dose selection of oral antidiabetic drugs' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of toxicity or dose selection of oral antidiabetic drugs' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_618572 Label(s): Selection of therapeutic option in ovarian cancer + 'Selection of therapeutic option in ovarian cancer' SubClassOf 'disorder' + 'Selection of therapeutic option in ovarian cancer' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284125 Label(s): cytochrome P450 family 1 subfamily A member 2 + 'cytochrome P450 family 1 subfamily A member 2' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or absent response to clozapine' + 'cytochrome P450 family 1 subfamily A member 2' SubClassOf 'has_chromosomal location' value "15q24.1" + 'cytochrome P450 family 1 subfamily A member 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_284121 Label(s): Prediction of toxicity or absent response to clozapine + 'Prediction of toxicity or absent response to clozapine' SubClassOf 'disorder' + 'Prediction of toxicity or absent response to clozapine' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_284113 Label(s): OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine + 'OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_284102 Label(s): Prediction of response to antiviral treatment in hepatitis C + 'Prediction of response to antiviral treatment in hepatitis C' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of response to antiviral treatment in hepatitis C' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_3315 Label(s): OBSOLETE: Thiopurine S-methyltransferase deficiency + 'OBSOLETE: Thiopurine S-methyltransferase deficiency' SubClassOf 'obsolete disorder' + 'OBSOLETE: Thiopurine S-methyltransferase deficiency' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240877 Label(s): OBSOLETE: Gliclazide toxicity + 'OBSOLETE: Gliclazide toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Gliclazide toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_240891 Label(s): OBSOLETE: Mivacurium toxicity + 'OBSOLETE: Mivacurium toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Mivacurium toxicity' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_596747 Label(s): Prediction of toxicity or dose selection of eliglustat + 'Prediction of toxicity or dose selection of eliglustat' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of toxicity or dose selection of eliglustat' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_596744 Label(s): Prediction of dolutegravir toxicity + 'Prediction of dolutegravir toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of dolutegravir toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_788 Label(s): OBSOLETE: Hereditary resistance to anti-vitamin K + 'OBSOLETE: Hereditary resistance to anti-vitamin K' SubClassOf 'obsolete disorder' + 'OBSOLETE: Hereditary resistance to anti-vitamin K' SubClassOf 'Referred to' some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_423802 Label(s): cytochrome P450 family 3 subfamily A member 4 + 'cytochrome P450 family 3 subfamily A member 4' SubClassOf 'has_chromosomal location' value "7q22.1" + 'cytochrome P450 family 3 subfamily A member 4' SubClassOf 'gene with protein product' + 'cytochrome P450 family 3 subfamily A member 4' SubClassOf 'biomarker tested in' some 'Tacrolimus dose selection' Class: http://www.orpha.net/ORDO/Orphanet_422883 Label(s): nudix hydrolase 15 + 'nudix hydrolase 15' SubClassOf 'has_chromosomal location' value "13q14.2" + 'nudix hydrolase 15' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'nudix hydrolase 15' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_574637 Label(s): Prediction of ivermectin toxicity + 'Prediction of ivermectin toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of ivermectin toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_619246 Label(s): Selection of immunotherapy in solid cancer + 'Selection of immunotherapy in solid cancer' SubClassOf 'disorder' + 'Selection of immunotherapy in solid cancer' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_618569 Label(s): Prediction of sensitivity to immunosuppressive drugs in myelodysplasia + 'Prediction of sensitivity to immunosuppressive drugs in myelodysplasia' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of sensitivity to immunosuppressive drugs in myelodysplasia' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_449306 Label(s): Antibiotic therapy dose selection + 'Antibiotic therapy dose selection' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Antibiotic therapy dose selection' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_240857 Label(s): OBSOLETE: Carbamazepine toxicity + 'OBSOLETE: Carbamazepine toxicity' SubClassOf 'Referred to' some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Carbamazepine toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240881 Label(s): OBSOLETE: Glipizide toxicity + 'OBSOLETE: Glipizide toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Glipizide toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_240871 Label(s): Prediction of flucloxacilline toxicity + 'Prediction of flucloxacilline toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of flucloxacilline toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_240957 Label(s): OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment + 'OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_284108 Label(s): interferon lambda 3 + 'interferon lambda 3' SubClassOf 'has_chromosomal location' value "19q13.2" + 'interferon lambda 3' SubClassOf 'biomarker tested in' some 'Prediction of response to antiviral treatment in hepatitis C' + 'interferon lambda 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_324270 Label(s): C-C motif chemokine receptor 5 + 'C-C motif chemokine receptor 5' SubClassOf 'has_chromosomal location' value "3p21.31" + 'C-C motif chemokine receptor 5' SubClassOf 'biomarker tested in' some 'Selection of therapeutic option in AIDS' + 'C-C motif chemokine receptor 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_358452 Label(s): EMAP like 4 + 'EMAP like 4' SubClassOf 'biomarker tested in' some 'Selection of therapeutic option in non-small cell lung carcinoma' + 'EMAP like 4' SubClassOf 'has_chromosomal location' value "2p21" + 'EMAP like 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_240917 Label(s): OBSOLETE: Vecuronium toxicity + 'OBSOLETE: Vecuronium toxicity' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Vecuronium toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240845 Label(s): Prediction of allopurinol toxicity + 'Prediction of allopurinol toxicity' SubClassOf 'disorder' + 'Prediction of allopurinol toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241987 Label(s): cytochrome P450 family 2 subfamily B member 6 + 'cytochrome P450 family 2 subfamily B member 6' SubClassOf 'biomarker tested in' some 'Prediction of efavirenz toxicity' + 'cytochrome P450 family 2 subfamily B member 6' SubClassOf 'gene with protein product' + 'cytochrome P450 family 2 subfamily B member 6' SubClassOf 'has_chromosomal location' value "19q13.2" Class: http://www.orpha.net/ORDO/Orphanet_241984 Label(s): N-acetyltransferase 2 + 'N-acetyltransferase 2' SubClassOf 'has_chromosomal location' value "8p22" + 'N-acetyltransferase 2' SubClassOf 'biomarker tested in' some 'Prediction of isoniazid toxicity' + 'N-acetyltransferase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_241965 Label(s): cytochrome P450 family 2 subfamily C member 9 + 'cytochrome P450 family 2 subfamily C member 9' SubClassOf 'has_chromosomal location' value "10q23.33" + 'cytochrome P450 family 2 subfamily C member 9' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'cytochrome P450 family 2 subfamily C member 9' SubClassOf 'gene with protein product' + 'cytochrome P450 family 2 subfamily C member 9' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241960 Label(s): cytochrome P450 family 2 subfamily C member 19 + 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'gene with protein product' + 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'has_chromosomal location' value "10q23.33" + 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'biomarker tested in' some 'Prediction of voriconazole toxicity' + 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'biomarker tested in' some 'Prediction of resistance to clopidogrel' + 'cytochrome P450 family 2 subfamily C member 19' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241953 Label(s): cytochrome P450 family 2 subfamily D member 6 + 'cytochrome P450 family 2 subfamily D member 6' SubClassOf 'biomarker tested in' some 'Prediction of codeine toxicity' + 'cytochrome P450 family 2 subfamily D member 6' SubClassOf 'has_chromosomal location' value "22q13.2" + 'cytochrome P450 family 2 subfamily D member 6' SubClassOf 'gene with protein product' + 'cytochrome P450 family 2 subfamily D member 6' SubClassOf 'biomarker tested in' some 'Prediction of resistance to tamoxifene' + 'cytochrome P450 family 2 subfamily D member 6' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_470162 Label(s): cytochrome P450 family 2 subfamily C member 8 + 'cytochrome P450 family 2 subfamily C member 8' SubClassOf 'has_chromosomal location' value "10q23.33" + 'cytochrome P450 family 2 subfamily C member 8' SubClassOf 'gene with protein product' + 'cytochrome P450 family 2 subfamily C member 8' SubClassOf 'biomarker tested in' some 'Prediction of enzalutamide toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240919 Label(s): OBSOLETE: Venlafaxine toxicity + 'OBSOLETE: Venlafaxine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Venlafaxine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241994 Label(s): cytochrome P450 family 3 subfamily A member 5 + 'cytochrome P450 family 3 subfamily A member 5' SubClassOf 'has_chromosomal location' value "7q22.1" + 'cytochrome P450 family 3 subfamily A member 5' SubClassOf 'biomarker tested in' some 'Tacrolimus dose selection' + 'cytochrome P450 family 3 subfamily A member 5' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_311355 Label(s): gamma-glutamyl hydrolase + 'gamma-glutamyl hydrolase' SubClassOf 'biomarker tested in' some 'Methotrexate dose selection' + 'gamma-glutamyl hydrolase' SubClassOf 'gene with protein product' + 'gamma-glutamyl hydrolase' SubClassOf 'has_chromosomal location' value "8q12.3" Class: http://www.orpha.net/ORDO/Orphanet_311352 Label(s): solute carrier family 19 member 1 + 'solute carrier family 19 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 19 member 1' SubClassOf 'biomarker tested in' some 'Methotrexate dose selection' + 'solute carrier family 19 member 1' SubClassOf 'has_chromosomal location' value "21q22.3" Class: http://www.orpha.net/ORDO/Orphanet_240839 Label(s): Prediction of 5-fluorouracil toxicity + 'Prediction of 5-fluorouracil toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of 5-fluorouracil toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_240851 Label(s): OBSOLETE: Atorvastatin toxicity + 'OBSOLETE: Atorvastatin toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Atorvastatin toxicity' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240859 Label(s): OBSOLETE: Carbutamide toxicity + 'OBSOLETE: Carbutamide toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Carbutamide toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241001 Label(s): OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment + 'OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment' SubClassOf 'Referred to' some 'Prediction of flucloxacilline toxicity' + 'OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241003 Label(s): OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment + 'OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241013 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240889 Label(s): OBSOLETE: Mercaptopurine toxicity + 'OBSOLETE: Mercaptopurine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Mercaptopurine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_241021 Label(s): OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment + 'OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241025 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240899 Label(s): OBSOLETE: Phenytoin toxicity + 'OBSOLETE: Phenytoin toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Phenytoin toxicity' SubClassOf 'Referred to' some 'Prediction of flucloxacilline toxicity' Class: http://www.orpha.net/ORDO/Orphanet_398980 Label(s): OBSOLETE: Primary peritoneal serous/papillary carcinoma + 'OBSOLETE: Primary peritoneal serous/papillary carcinoma' SubClassOf 'obsolete disorder' + 'OBSOLETE: Primary peritoneal serous/papillary carcinoma' SubClassOf 'Referred to' some 'Primary peritoneal carcinoma' Class: http://www.orpha.net/ORDO/Orphanet_241031 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240937 Label(s): OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation' SubClassOf 'Referred to' some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240913 Label(s): OBSOLETE: Simvastatin toxicity + 'OBSOLETE: Simvastatin toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Simvastatin toxicity' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240931 Label(s): OBSOLETE: Resistance to amitriptyline in the treatment of depression + 'OBSOLETE: Resistance to amitriptyline in the treatment of depression' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to amitriptyline in the treatment of depression' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240935 Label(s): Prediction of resistance to clopidogrel + 'Prediction of resistance to clopidogrel' SubClassOf 'disorder' + 'Prediction of resistance to clopidogrel' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240945 Label(s): OBSOLETE: Resistance to tacrolimus in transplantation + 'OBSOLETE: Resistance to tacrolimus in transplantation' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to tacrolimus in transplantation' SubClassOf 'Referred to' some 'Tacrolimus dose selection' Class: http://www.orpha.net/ORDO/Orphanet_509238 Label(s): ROS proto-oncogene 1, receptor tyrosine kinase + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'candidate gene tested in' some 'Selection of therapeutic option in non-small cell lung carcinoma' + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'gene with protein product' + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'has_chromosomal location' value "6q22.1" Class: http://www.orpha.net/ORDO/Orphanet_413674 Label(s): Prediction of toxicity or dose selection of vitamin K antagonists + 'Prediction of toxicity or dose selection of vitamin K antagonists' SubClassOf 'disorder' + 'Prediction of toxicity or dose selection of vitamin K antagonists' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_414750 Label(s): Prediction of phenytoin or carbamazepine toxicity + 'Prediction of phenytoin or carbamazepine toxicity' SubClassOf 'disorder' + 'Prediction of phenytoin or carbamazepine toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241033 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_457472 Label(s): mannose binding lectin 2 + 'mannose binding lectin 2' SubClassOf 'biomarker tested in' some 'Antibiotic therapy dose selection' + 'mannose binding lectin 2' SubClassOf 'gene with protein product' + 'mannose binding lectin 2' SubClassOf 'has_chromosomal location' value "10q21.1" Class: http://www.orpha.net/ORDO/Orphanet_240999 Label(s): OBSOLETE: Susceptibility to deafness due to cisplatin treatment + 'OBSOLETE: Susceptibility to deafness due to cisplatin treatment' SubClassOf 'Referred to' some 'Prediction of cisplatin toxicity' + 'OBSOLETE: Susceptibility to deafness due to cisplatin treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240997 Label(s): OBSOLETE: Susceptibility to bleeding due to warfarine treatment + 'OBSOLETE: Susceptibility to bleeding due to warfarine treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to bleeding due to warfarine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240995 Label(s): OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment + 'OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240993 Label(s): OBSOLETE: Susceptibility to bleeding due to fluindione treatment + 'OBSOLETE: Susceptibility to bleeding due to fluindione treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Susceptibility to bleeding due to fluindione treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240991 Label(s): OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment + 'OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240989 Label(s): OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240987 Label(s): OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240985 Label(s): OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240983 Label(s): OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment' SubClassOf 'Referred to' some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240981 Label(s): OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment' SubClassOf 'Referred to' some 'Prediction of statin toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240979 Label(s): OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment + 'OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240977 Label(s): OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment + 'OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment' SubClassOf 'Referred to' some 'Methotrexate toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240975 Label(s): OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment + 'OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment' SubClassOf 'Referred to' some 'Prediction of isoniazid toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240973 Label(s): OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment + 'OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment' SubClassOf 'Referred to' some 'Prediction of irinotecan toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240971 Label(s): OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240969 Label(s): OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment + 'OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment' SubClassOf 'Referred to' some 'Prediction of efavirenz toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240967 Label(s): OBSOLETE: Susceptibility to adverse reaction due to codeine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to codeine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to codeine treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240965 Label(s): OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240963 Label(s): OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment + 'OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment' SubClassOf 'Referred to' some 'Prediction of 5-fluorouracil toxicity' + 'OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240961 Label(s): OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment + 'OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240959 Label(s): OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment + 'OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240955 Label(s): OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment + 'OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment' SubClassOf 'Referred to' some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240953 Label(s): OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation' SubClassOf 'Referred to' some 'Prediction of resistance to vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240951 Label(s): OBSOLETE: Resistance to venlafaxine in the treatment of depression + 'OBSOLETE: Resistance to venlafaxine in the treatment of depression' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to venlafaxine in the treatment of depression' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240949 Label(s): OBSOLETE: Resistance to trimipramine in the treatment of depression + 'OBSOLETE: Resistance to trimipramine in the treatment of depression' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to trimipramine in the treatment of depression' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240947 Label(s): Prediction of resistance to tamoxifene + 'Prediction of resistance to tamoxifene' SubClassOf 'disorder' + 'Prediction of resistance to tamoxifene' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240943 Label(s): OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation' SubClassOf 'Referred to' some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240941 Label(s): OBSOLETE: Resistance to nortripilline in the treatment of depression + 'OBSOLETE: Resistance to nortripilline in the treatment of depression' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to nortripilline in the treatment of depression' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240939 Label(s): OBSOLETE: Resistance to imipramine in the treatment of depression + 'OBSOLETE: Resistance to imipramine in the treatment of depression' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to imipramine in the treatment of depression' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240933 Label(s): OBSOLETE: Resistance to clomipramine in the treatment of depression + 'OBSOLETE: Resistance to clomipramine in the treatment of depression' SubClassOf 'obsolete disorder' + 'OBSOLETE: Resistance to clomipramine in the treatment of depression' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240929 Label(s): OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation + 'OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation' SubClassOf 'Referred to' some 'Prediction of resistance to vitamin K antagonists' + 'OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240927 Label(s): OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation + 'OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf 'obsolete disorder' + 'OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240925 Label(s): OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation + 'OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf 'obsolete disorder' + 'OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240923 Label(s): OBSOLETE: Warfarine toxicity + 'OBSOLETE: Warfarine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Warfarine toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240921 Label(s): Prediction of voriconazole toxicity + 'Prediction of voriconazole toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of voriconazole toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_240915 Label(s): OBSOLETE: Trimipramine toxicity + 'OBSOLETE: Trimipramine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Trimipramine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240911 Label(s): OBSOLETE: Satracurium toxicity + 'OBSOLETE: Satracurium toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Satracurium toxicity' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240909 Label(s): OBSOLETE: Rosuvastatin toxicity + 'OBSOLETE: Rosuvastatin toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Rosuvastatin toxicity' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240907 Label(s): OBSOLETE: Rocuronium toxicity + 'OBSOLETE: Rocuronium toxicity' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' + 'OBSOLETE: Rocuronium toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240905 Label(s): Prediction of raltegravir toxicity + 'Prediction of raltegravir toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of raltegravir toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_240903 Label(s): OBSOLETE: Pravastatin toxicity + 'OBSOLETE: Pravastatin toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Pravastatin toxicity' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240901 Label(s): OBSOLETE: Fosphenytoin toxicity + 'OBSOLETE: Fosphenytoin toxicity' SubClassOf 'Referred to' some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Fosphenytoin toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_318801 Label(s): ATP binding cassette subfamily B member 1 + 'ATP binding cassette subfamily B member 1' SubClassOf 'biomarker tested in' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' + 'ATP binding cassette subfamily B member 1' SubClassOf 'biomarker tested in' some 'Prediction of resistance to colchicine' + 'ATP binding cassette subfamily B member 1' SubClassOf 'biomarker tested in' some 'Prediction of antihistamines toxicity' + 'ATP binding cassette subfamily B member 1' SubClassOf 'has_chromosomal location' value "7q21.12" + 'ATP binding cassette subfamily B member 1' SubClassOf 'biomarker tested in' some 'Prediction of ivermectin toxicity' + 'ATP binding cassette subfamily B member 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_306566 Label(s): OBSOLETE: Susceptibility to myopathies due to statin treatment + 'OBSOLETE: Susceptibility to myopathies due to statin treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to myopathies due to statin treatment' SubClassOf 'Referred to' some 'Prediction of statin toxicity' Class: http://www.orpha.net/ORDO/Orphanet_306574 Label(s): OBSOLETE: Methotrexate dose selection + 'OBSOLETE: Methotrexate dose selection' SubClassOf 'Referred to' some 'Methotrexate dose selection' + 'OBSOLETE: Methotrexate dose selection' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_544260 Label(s): Selection of therapeutic option in melanoma + 'Selection of therapeutic option in melanoma' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Selection of therapeutic option in melanoma' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_241045 Label(s): OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation + 'OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241043 Label(s): Tacrolimus dose selection + 'Tacrolimus dose selection' SubClassOf 'disorder' + 'Tacrolimus dose selection' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_241041 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment' SubClassOf 'Referred to' some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241039 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment' SubClassOf 'Referred to' some 'Prediction of phenytoin or carbamazepine toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241037 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment' SubClassOf 'Referred to' some 'Prediction of phenytoin or carbamazepine toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241035 Label(s): OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment' SubClassOf 'Referred to' some 'Prediction of allopurinol toxicity' + 'OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240897 Label(s): OBSOLETE: Phenprocoumon toxicity + 'OBSOLETE: Phenprocoumon toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Phenprocoumon toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_240895 Label(s): OBSOLETE: Pancuronium toxicity + 'OBSOLETE: Pancuronium toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Pancuronium toxicity' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240893 Label(s): OBSOLETE: Nortriptyline toxicity + 'OBSOLETE: Nortriptyline toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Nortriptyline toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241029 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241027 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_241023 Label(s): OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment + 'OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240887 Label(s): Prediction of isoniazid toxicity + 'Prediction of isoniazid toxicity' SubClassOf 'disorder' + 'Prediction of isoniazid toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240885 Label(s): Prediction of irinotecan toxicity + 'Prediction of irinotecan toxicity' SubClassOf 'disorder' + 'Prediction of irinotecan toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240883 Label(s): OBSOLETE: Imipramine toxicity + 'OBSOLETE: Imipramine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Imipramine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_241019 Label(s): OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment + 'OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' + 'OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241015 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240879 Label(s): OBSOLETE: Glimepiride toxicity + 'OBSOLETE: Glimepiride toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Glimepiride toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_241011 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_240875 Label(s): OBSOLETE: Glibenclamide toxicity + 'OBSOLETE: Glibenclamide toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Glibenclamide toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240873 Label(s): OBSOLETE: Fluindione toxicity + 'OBSOLETE: Fluindione toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Fluindione toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' Class: http://www.orpha.net/ORDO/Orphanet_241009 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' + 'OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_241007 Label(s): OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment + 'OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment' SubClassOf 'obsolete disorder' + 'OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of oral antidiabetic drugs' Class: http://www.orpha.net/ORDO/Orphanet_240869 Label(s): Prediction of efavirenz toxicity + 'Prediction of efavirenz toxicity' SubClassOf 'disorder' + 'Prediction of efavirenz toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240867 Label(s): Prediction of codeine toxicity + 'Prediction of codeine toxicity' SubClassOf 'disorder' + 'Prediction of codeine toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240865 Label(s): OBSOLETE: Clomipramine toxicity + 'OBSOLETE: Clomipramine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Clomipramine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240863 Label(s): Prediction of cisplatin toxicity + 'Prediction of cisplatin toxicity' SubClassOf 'disorder' + 'Prediction of cisplatin toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_240861 Label(s): OBSOLETE: Cisatracurium toxicity + 'OBSOLETE: Cisatracurium toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Cisatracurium toxicity' SubClassOf 'Referred to' some 'Prediction of curariform drugs toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240855 Label(s): OBSOLETE: Capecitabine toxicity + 'OBSOLETE: Capecitabine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Capecitabine toxicity' SubClassOf 'Referred to' some 'Prediction of 5-fluorouracil toxicity' Class: http://www.orpha.net/ORDO/Orphanet_240853 Label(s): OBSOLETE: Azathioprine toxicity + 'OBSOLETE: Azathioprine toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Azathioprine toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of thiopurine drugs' Class: http://www.orpha.net/ORDO/Orphanet_240849 Label(s): OBSOLETE: Antipsychotics toxicity + 'OBSOLETE: Antipsychotics toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Antipsychotics toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240847 Label(s): OBSOLETE: Amitriptyline toxicity + 'OBSOLETE: Amitriptyline toxicity' SubClassOf 'obsolete disorder' + 'OBSOLETE: Amitriptyline toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of antidepressants or antipsychotics' Class: http://www.orpha.net/ORDO/Orphanet_240843 Label(s): OBSOLETE: Acenocoumarol toxicity + 'OBSOLETE: Acenocoumarol toxicity' SubClassOf 'Referred to' some 'Prediction of toxicity or dose selection of vitamin K antagonists' + 'OBSOLETE: Acenocoumarol toxicity' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_240841 Label(s): Prediction of abacavir toxicity + 'Prediction of abacavir toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of abacavir toxicity' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_241017 Label(s): OBSOLETE: Susceptibility to icterus due to raltegravir treatment + 'OBSOLETE: Susceptibility to icterus due to raltegravir treatment' SubClassOf 'obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_357194 Label(s): Selection of therapeutic option in colorectal cancer + 'Selection of therapeutic option in colorectal cancer' SubClassOf 'disorder' + 'Selection of therapeutic option in colorectal cancer' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_357191 Label(s): Selection of therapeutic option in non-small cell lung carcinoma + 'Selection of therapeutic option in non-small cell lung carcinoma' SubClassOf 'disorder' + 'Selection of therapeutic option in non-small cell lung carcinoma' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_619277 Label(s): Prediction of antihistamines toxicity + 'Prediction of antihistamines toxicity' SubClassOf 'disorder' + 'Prediction of antihistamines toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_364195 Label(s): Prediction of resistance to bleomycine in the treatment of testicular cancer + 'Prediction of resistance to bleomycine in the treatment of testicular cancer' SubClassOf 'disorder' + 'Prediction of resistance to bleomycine in the treatment of testicular cancer' SubClassOf 'particular clinical situation in a disease or syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319269 Label(s): Selection of therapeutic option in AIDS + 'Selection of therapeutic option in AIDS' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Selection of therapeutic option in AIDS' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_413693 Label(s): Prediction of curariform drugs toxicity + 'Prediction of curariform drugs toxicity' SubClassOf 'particular clinical situation in a disease or syndrome' + 'Prediction of curariform drugs toxicity' SubClassOf 'disorder' ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_658549 Label(s): Idiopathic small fibers neuropathy + 'Idiopathic small fibers neuropathy' SubClassOf 'disorder' + 'Idiopathic small fibers neuropathy' SubClassOf 'part_of' some 'Acquired peripheral neuropathy' + 'Idiopathic small fibers neuropathy' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658540 Label(s): 16q22 deletion syndrome + '16q22 deletion syndrome' SubClassOf 'disease' + '16q22 deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '16q22 deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '16q22 deletion syndrome' SubClassOf 'disorder' + '16q22 deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 16' Class: http://www.orpha.net/ORDO/Orphanet_656326 Label(s): Autosomal recessive combined immunodeficiency due to IL6R deficiency + 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' + 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'disorder' + 'Autosomal recessive combined immunodeficiency due to IL6R deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_656313 Label(s): Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency + 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' + 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disease' + 'Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_656283 Label(s): Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency + 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'disorder' + 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' + 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'disease' + 'Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency' SubClassOf 'part_of' some 'Campomelic dysplasia and related disorders' Class: http://www.orpha.net/ORDO/Orphanet_656279 Label(s): 1p36.33 duplication syndrome + '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome 1' + '1p36.33 duplication syndrome' SubClassOf 'disease' + '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy' + '1p36.33 duplication syndrome' SubClassOf 'disorder' + '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder' + '1p36.33 duplication syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_656273 Label(s): Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'disorder' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic autonomic nervous system disorder' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare pulmonary disease' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'Clinical syndrome' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease' + 'Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome' SubClassOf 'part_of' some 'Rare autonomic nervous system disorder' Class: http://www.orpha.net/ORDO/Orphanet_656135 Label(s): Intellectual disability-cupped ears syndrome + 'Intellectual disability-cupped ears syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-cupped ears syndrome' SubClassOf 'disorder' + 'Intellectual disability-cupped ears syndrome' SubClassOf 'disease' + 'Intellectual disability-cupped ears syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_656130 Label(s): PBX1-related congenital anomalies of kidney and urinary tract syndrome + 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'disease' + 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'disorder' + 'PBX1-related congenital anomalies of kidney and urinary tract syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_656126 Label(s): Segmental spinal dysgenesis + 'Segmental spinal dysgenesis' SubClassOf 'disease' + 'Segmental spinal dysgenesis' SubClassOf 'part_of' some 'Malformation of the neurenteric canal, spinal cord and column' + 'Segmental spinal dysgenesis' SubClassOf 'disorder' + 'Segmental spinal dysgenesis' SubClassOf 'part_of' some 'Closed spinal dysraphism' Class: http://www.orpha.net/ORDO/Orphanet_656085 Label(s): Benign atrophic papulosis + 'Benign atrophic papulosis' SubClassOf 'subtype of a disorder' + 'Benign atrophic papulosis' SubClassOf 'part_of' some 'Atrophic papulosis' Class: http://www.orpha.net/ORDO/Orphanet_656071 Label(s): Atrophic papulosis + 'Atrophic papulosis' SubClassOf 'disease' + 'Atrophic papulosis' SubClassOf 'disorder' + 'Atrophic papulosis' SubClassOf 'part_of' some 'Skin vascular disease' + 'Atrophic papulosis' SubClassOf 'part_of' some 'Genetic skin vascular disorder' Class: http://www.orpha.net/ORDO/Orphanet_658913 Label(s): Paragonimiasis + 'Paragonimiasis' SubClassOf 'part_of' some 'Distomatosis' + 'Paragonimiasis' SubClassOf 'disorder' + 'Paragonimiasis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_653698 Label(s): Lymphocytic mastitis + 'Lymphocytic mastitis' SubClassOf 'part_of' some 'Rare non-malformative breast disease' + 'Lymphocytic mastitis' SubClassOf 'disorder' + 'Lymphocytic mastitis' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_653767 Label(s): Jansen-de Vries syndrome + 'Jansen-de Vries syndrome' SubClassOf 'disease' + 'Jansen-de Vries syndrome' SubClassOf 'disorder' + 'Jansen-de Vries syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Jansen-de Vries syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_653751 Label(s): X-linked combined immunodeficiency due to SASH3 deficiency + 'X-linked combined immunodeficiency due to SASH3 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'X-linked combined immunodeficiency due to SASH3 deficiency' SubClassOf 'disease' + 'X-linked combined immunodeficiency due to SASH3 deficiency' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_653728 Label(s): Congenital insensitivity to pain syndrome, Marsili type + 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'part_of' some 'Autosomal recessive hereditary sensory and autonomic neuropathy' + 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'disease' + 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'disorder' + 'Congenital insensitivity to pain syndrome, Marsili type' SubClassOf 'part_of' some 'Autosomal dominant hereditary sensory and autonomic neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_653722 Label(s): Digenic Alport syndrome + 'Digenic Alport syndrome' SubClassOf 'subtype of a disorder' + 'Digenic Alport syndrome' SubClassOf 'part_of' some 'Alport syndrome' Class: http://www.orpha.net/ORDO/Orphanet_653712 Label(s): CHD4-related neurodevelopmental disorder + 'CHD4-related neurodevelopmental disorder' SubClassOf 'disorder' + 'CHD4-related neurodevelopmental disorder' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'CHD4-related neurodevelopmental disorder' SubClassOf 'disease' + 'CHD4-related neurodevelopmental disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_653709 Label(s): Cone rod dystrophy-short stature syndrome + 'Cone rod dystrophy-short stature syndrome' SubClassOf 'disorder' + 'Cone rod dystrophy-short stature syndrome' SubClassOf 'disease' + 'Cone rod dystrophy-short stature syndrome' SubClassOf 'part_of' some 'Isolated progressive inherited retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_658909 Label(s): Fasciolopsiasis + 'Fasciolopsiasis' SubClassOf 'disease' + 'Fasciolopsiasis' SubClassOf 'disorder' + 'Fasciolopsiasis' SubClassOf 'part_of' some 'Distomatosis' Class: http://www.orpha.net/ORDO/Orphanet_653725 Label(s): Autosomal recessive limb-girdle muscular dystrophy, type 28 + 'Autosomal recessive limb-girdle muscular dystrophy, type 28' SubClassOf 'disease' + 'Autosomal recessive limb-girdle muscular dystrophy, type 28' SubClassOf 'part_of' some 'Autosomal recessive limb-girdle muscular dystrophy' + 'Autosomal recessive limb-girdle muscular dystrophy, type 28' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_495724 Label(s): WD repeat domain 1 + 'WD repeat domain 1' SubClassOf 'gene with protein product' + 'WD repeat domain 1' SubClassOf 'has_chromosomal location' value "4p16.1" + 'WD repeat domain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_653915 Label(s): zinc finger homeobox 2 + 'zinc finger homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital insensitivity to pain syndrome, Marsili type' + 'zinc finger homeobox 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_653434 Label(s): Autoinflammatory syndrome with acne and/or hidradenitis suppurativa + 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Pyogenic autoinflammatory syndrome' + 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Autoinflammatory syndrome with skin involvement' + 'Autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_658805 Label(s): Greig cephalopolysyndactyly-contiguous gene syndrome + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 7' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Ciliopathy' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'disease' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'disorder' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Greig cephalopolysyndactyly-contiguous gene syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_658813 Label(s): Methylenetetrahydrofolate dehydrogenase 1 deficiency + 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'part_of' some 'Disorder of folate metabolism and transport' + 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'disorder' + 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'disease' + 'Methylenetetrahydrofolate dehydrogenase 1 deficiency' SubClassOf 'part_of' some 'Constitutional megaloblastic anemia due to folate metabolism disorder' Class: http://www.orpha.net/ORDO/Orphanet_656300 Label(s): Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency + 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disease' + 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'disorder' + 'Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' Class: http://www.orpha.net/ORDO/Orphanet_658917 Label(s): Clonorchiasis + 'Clonorchiasis' SubClassOf 'disorder' + 'Clonorchiasis' SubClassOf 'disease' + 'Clonorchiasis' SubClassOf 'part_of' some 'Distomatosis' Class: http://www.orpha.net/ORDO/Orphanet_658946 Label(s): Early-onset autoimmune disorder due to DOCK11 partial deficiency + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Immunodeficiency syndrome with autoimmunity' + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'disease' + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'disorder' + 'Early-onset autoimmune disorder due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'Mixed autoinflammatory and autoimmune syndrome' Class: http://www.orpha.net/ORDO/Orphanet_652816 Label(s): serine/arginine repetitive matrix 2 + 'serine/arginine repetitive matrix 2' SubClassOf 'gene with protein product' + 'serine/arginine repetitive matrix 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_656912 Label(s): Autosomal dominant combined immunodeficiency due to ERBIN deficiency + 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'disorder' + 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'part_of' some 'Hyper-IgE syndrome' + 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Autosomal dominant combined immunodeficiency due to ERBIN deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_652514 Label(s): Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation + 'Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation' SubClassOf 'part_of' some 'Cleft palate-congenital heart defect-intellectual disability syndrome' + 'Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation' SubClassOf 'subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_652519 Label(s): Cleft palate-congenital heart defect-intellectual disability syndrome + 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'disorder' + 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cleft palate-congenital heart defect-intellectual disability syndrome' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_652528 Label(s): Non-syndromic supernumerary kidneys + 'Non-syndromic supernumerary kidneys' SubClassOf 'Morphological anomaly' + 'Non-syndromic supernumerary kidneys' SubClassOf 'part_of' some 'Non-syndromic renal or urinary tract malformation' + 'Non-syndromic supernumerary kidneys' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_426564 Label(s): enoyl-CoA hydratase, short chain 1 + 'enoyl-CoA hydratase, short chain 1' SubClassOf 'has_chromosomal location' value "10q26.3" + 'enoyl-CoA hydratase, short chain 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' + 'enoyl-CoA hydratase, short chain 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_652678 Label(s): Primary inferior vena cava aneurysm + 'Primary inferior vena cava aneurysm' SubClassOf 'part_of' some 'Congenital anomaly of the inferior vena cava' + 'Primary inferior vena cava aneurysm' SubClassOf 'disorder' + 'Primary inferior vena cava aneurysm' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_652650 Label(s): Nodal T-follicular helper cell lymphoma, follicular type + 'Nodal T-follicular helper cell lymphoma, follicular type' SubClassOf 'disease' + 'Nodal T-follicular helper cell lymphoma, follicular type' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' + 'Nodal T-follicular helper cell lymphoma, follicular type' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_658810 Label(s): Atrophoderma of Pasini and Pierini + 'Atrophoderma of Pasini and Pierini' SubClassOf 'part_of' some 'Other dermis disorder' + 'Atrophoderma of Pasini and Pierini' SubClassOf 'disease' + 'Atrophoderma of Pasini and Pierini' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_594670 Label(s): SAM and SH3 domain containing 3 + 'SAM and SH3 domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked combined immunodeficiency due to SASH3 deficiency' + 'SAM and SH3 domain containing 3' SubClassOf 'gene with protein product' + 'SAM and SH3 domain containing 3' SubClassOf 'has_chromosomal location' value "Xq26.1" Class: http://www.orpha.net/ORDO/Orphanet_652658 Label(s): Monomorphic epitheliotropic intestinal T-cell lymphoma + 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'part_of' some 'Rare tumor of small intestine' + 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'disorder' + 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'disease' + 'Monomorphic epitheliotropic intestinal T-cell lymphoma' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_652668 Label(s): Primary superior vena cava aneurysm + 'Primary superior vena cava aneurysm' SubClassOf 'disorder' + 'Primary superior vena cava aneurysm' SubClassOf 'part_of' some 'Congenital anomaly of superior vena cava' + 'Primary superior vena cava aneurysm' SubClassOf 'malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_652532 Label(s): Adult-onset progressive leukoencephalopathy-early-onset deafness + 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'part_of' some 'Leukodystrophy' + 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'disease' + 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'part_of' some 'Syndromic genetic deafness' + 'Adult-onset progressive leukoencephalopathy-early-onset deafness' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_652522 Label(s): Periodic fever-immunodeficiency-thrombocytopenia syndrome + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'disease' + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome' + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Syndromic constitutional thrombocytopenia' + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'disorder' + 'Periodic fever-immunodeficiency-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with immune deficiency' Class: http://www.orpha.net/ORDO/Orphanet_652510 Label(s): Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa + 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Genetic autoinflammatory syndrome with skin involvement' + 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'Rare hereditary autoinflammatory disease' + 'Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa' SubClassOf 'group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_658584 Label(s): Rowell syndrome + 'Rowell syndrome' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Rowell syndrome' SubClassOf 'part_of' some 'Autoimmune disease with skin involvement' + 'Rowell syndrome' SubClassOf 'disease' + 'Rowell syndrome' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_652487 Label(s): Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome + 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'disorder' + 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Syndromic obesity' + 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'malformation syndrome' + 'Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_653880 Label(s): Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency + 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'disorder' + 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'part_of' some 'Cerebral organic aciduria' + 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658951 Label(s): Early-onset immune dysregulation due to DOCK11 complete deficiency + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'disease' + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'disorder' + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Rare genetic systemic or rheumatologic disease' + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' Class: http://www.orpha.net/ORDO/Orphanet_652681 Label(s): Idiopathic subglottic stenosis + 'Idiopathic subglottic stenosis' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease' + 'Idiopathic subglottic stenosis' SubClassOf 'disease' + 'Idiopathic subglottic stenosis' SubClassOf 'disorder' Class: http://www.orpha.net/ORDO/Orphanet_658843 Label(s): Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome + 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'disease' + 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'disorder' + 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_658778 Label(s): COQ7-related distal hereditary motor neuropathy + 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'part_of' some 'Coenzyme Q10 deficiency' + 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'disorder' + 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'disease' + 'COQ7-related distal hereditary motor neuropathy' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_470084 Label(s): chromodomain helicase DNA binding protein 4 + 'chromodomain helicase DNA binding protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'CHD4-related neurodevelopmental disorder' + 'chromodomain helicase DNA binding protein 4' SubClassOf 'has_chromosomal location' value "12p13.31" + 'chromodomain helicase DNA binding protein 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_618952 Label(s): 3-hydroxy-3-methylglutaryl-CoA reductase + '3-hydroxy-3-methylglutaryl-CoA reductase' SubClassOf 'has_chromosomal location' value "5q13.3" + '3-hydroxy-3-methylglutaryl-CoA reductase' SubClassOf 'gene with protein product' + '3-hydroxy-3-methylglutaryl-CoA reductase' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive limb-girdle muscular dystrophy, type 28' Class: http://www.orpha.net/ORDO/Orphanet_656417 Label(s): Embryonal tumor with multilayered rosettes + 'Embryonal tumor with multilayered rosettes' SubClassOf 'disorder' + 'Embryonal tumor with multilayered rosettes' SubClassOf 'part_of' some 'Central nervous system embryonal tumor' + 'Embryonal tumor with multilayered rosettes' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658612 Label(s): Non-transplant-related bronchiolitis obliterans + 'Non-transplant-related bronchiolitis obliterans' SubClassOf 'disorder' + 'Non-transplant-related bronchiolitis obliterans' SubClassOf 'part_of' some 'Bronchiolitis obliterans' + 'Non-transplant-related bronchiolitis obliterans' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658602 Label(s): Transplant-related bronchiolitis obliterans + 'Transplant-related bronchiolitis obliterans' SubClassOf 'disorder' + 'Transplant-related bronchiolitis obliterans' SubClassOf 'disease' + 'Transplant-related bronchiolitis obliterans' SubClassOf 'part_of' some 'Bronchiolitis obliterans' Class: http://www.orpha.net/ORDO/Orphanet_658595 Label(s): DNMT3A-related microcephalic dwarfism + 'DNMT3A-related microcephalic dwarfism' SubClassOf 'malformation syndrome' + 'DNMT3A-related microcephalic dwarfism' SubClassOf 'disorder' + 'DNMT3A-related microcephalic dwarfism' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_658590 Label(s): Eyelid sebaceous carcinoma + 'Eyelid sebaceous carcinoma' SubClassOf 'part_of' some 'Rare eye tumor' + 'Eyelid sebaceous carcinoma' SubClassOf 'disorder' + 'Eyelid sebaceous carcinoma' SubClassOf 'disease' Class: http://www.orpha.net/ORDO/Orphanet_658574 Label(s): Isolated pulmonary artery sling + 'Isolated pulmonary artery sling' SubClassOf 'disorder' + 'Isolated pulmonary artery sling' SubClassOf 'part_of' some 'Abnormal origin of the pulmonary artery' + 'Isolated pulmonary artery sling' SubClassOf 'Morphological anomaly'