TaoMedAI/RareMedData huggingface dataset:
Gene: IDH1
Phenotype: Sepsis (HP:0100806)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Motor delay (HP:0001270)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Cavernous hemangioma of the face (HP:0007486)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Hemangiomatosis (HP:0007461)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: IDH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Bone pain (HP:0002653)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Bone pain (HP:0002653)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: IDH1
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
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: IDH1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: IDH1
Phenotype: Poor suck (HP:0002033)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
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: IDH1
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: IDH1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: IDH1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Exostoses (HP:0100777)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
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: IDH1
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Acute myelomonocytic leukemia (HP:0004820)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Skin plaque (HP:0200035)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
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: IDH1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Vascular tortuosity (HP:0004948)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
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: IDH1
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: IDH1
Phenotype: Broad carpal bones (HP:0004242)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Short stature (HP:0004322)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Short stature (HP:0004322)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Madelung deformity (HP:0003067)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Shield chest (HP:0000914)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Goiter (HP:0000853)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Large knee (HP:0030866)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Metaphyseal enchondromatosis (HP:0005868)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Dry skin (HP:0000958)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Sarcoma (HP:0100242)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Sarcoma (HP:0100242)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
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: IDH1
Phenotype: Subarterial ventricular septal defect (HP:0011681)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IDH1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Gene: IDH1
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Enchondromatosis Spranger type II; Maffucci syndrome; Multiple Enchondromatosis, Maffucci Type; Multiple Enchondromatosis type II (ORPHA:163634)
Gene: IDH1
Phenotype: Ependymoma (HP:0002888)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: IDH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: IDH1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IDH1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)