TaoMedAI/RareMedData huggingface dataset:
Gene: IARS1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Drumstick terminal phalanges (HP:0006129)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Absent speech (HP:0001344)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Absent speech (HP:0001344)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Abnormality of vitamin D metabolism (HP:0100511)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Esophagitis (HP:0100633)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Decreased serum zinc (HP:0031831)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Decreased serum zinc (HP:0031831)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: High maternal circulating chorionic gonadotropin concentration (HP:0011433)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Jaundice (HP:0000952)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Full cheeks (HP:0000293)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Round face (HP:0000311)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Round face (HP:0000311)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IRF8
Phenotype: Granuloma (HP:0032252)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Abnormal circulating IgG concentration (HP:0410242)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; MSMD due to partial IRF8 deficiency (ORPHA:319600)
Gene: IRF8
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Granulocytic hyperplasia (HP:0012138)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; MSMD due to partial IRF8 deficiency (ORPHA:319600)
Gene: IRF8
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Fever (HP:0001945)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; MSMD due to partial IRF8 deficiency (ORPHA:319600)
Gene: IRF8
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Decreased neutrophil oxidative burst (HP:0003203)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Sinusitis (HP:0000246)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Gene: IRF8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Decreased total monocyte count (HP:0012312)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: IRF8
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Gene: ID4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ID4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ID4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Irregular iliac crest (HP:0003796)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)