TaoMedAI/RareMedData huggingface dataset:
Gene: IDH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: D-2-hydroxyglutaric aciduria (HP:0012321)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Micromelia (HP:0002983)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Genu varum (HP:0002970)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Genu varum (HP:0002970)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Metaphyseal chondromatosis of ulna (HP:0030297)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Macrotia (HP:0000400)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Short neck (HP:0000470)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Metaphyseal chondromatosis of radius (HP:0030296)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Metaphyseal chondromatosis of femur (HP:0030295)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Metaphyseal chondromatosis of tibia (HP:0030294)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Seizure (HP:0001250)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
Gene: IDH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
Gene: IDH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
Gene: IDH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Hemangiomatosis (HP:0007461)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
Gene: IDH2
Phenotype: Bone pain (HP:0002653)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Bone pain (HP:0002653)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Abnormal cartilage morphology (HP:0002763)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Exostoses (HP:0100777)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Neoplasm of the parathyroid gland (HP:0100733)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Hemangioma (HP:0001028)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Neoplasm of the adrenal cortex (HP:0100641)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Short stature (HP:0004322)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Madelung deformity (HP:0003067)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Goiter (HP:0000853)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Sarcoma (HP:0100242)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Sarcoma (HP:0100242)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: D-2-hydroxyglutaric acidemia (HP:0040146)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
Gene: IDH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH2
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)