TaoMedAI/RareMedData huggingface dataset:
Gene: MECOM
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Anemia (HP:0001903)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Congenital thrombocytopenia (HP:0001905)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Short middle phalanx of the 4th finger (HP:0009295)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: MECOM
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: MECOM
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: EWSR1
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Ileus (HP:0002595)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: EWING SARCOMA (OMIM:612219)
Gene: EWSR1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Anemia (HP:0001903)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Cachexia (HP:0004326)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Sarcoma (HP:0100242)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Ewing sarcoma (HP:0012254)
Associated disease: EWING SARCOMA (OMIM:612219)
Gene: EWSR1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Ascites (HP:0001541)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EWSR1
Phenotype: Weight loss (HP:0001824)
Associated disease: DSRCT; Desmoplastic small round cell tumor (ORPHA:83469)
Gene: EXT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Bursitis (HP:0025232)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Arthritis (HP:0001369)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Bone pain (HP:0002653)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Deformed radius (HP:0003977)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Deformed forearm bones (HP:0003959)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Hemothorax (HP:0012151)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Tendon pain (HP:0032510)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Multiple exostoses (HP:0002762)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Abnormal cartilage morphology (HP:0002763)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CHONDROSARCOMA (OMIM:215300)
Gene: EXT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Talipes valgus (HP:0004684)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Myalgia (HP:0003326)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Tethered cord (HP:0002144)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Peripheral nerve compression (HP:0003406)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Peripheral nerve compression (HP:0003406)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Exostoses (HP:0100777)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Chest pain (HP:0100749)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Forearm undergrowth (HP:0009821)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Bone fracture (HP:0020110)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Short stature (HP:0004322)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Short stature (HP:0004322)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)