TaoMedAI/RareMedData huggingface dataset:
Gene: EXT1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Madelung-like forearm deformities (HP:0003068)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Short long bone (HP:0003026)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Aplasia/Hypoplasia of the mandible (HP:0009118)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Protuberances at ends of long bones (HP:0003105)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Scapular exostoses (HP:0000918)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Scapular exostoses (HP:0000918)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Abnormal lower limb bone morphology (HP:0040069)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Rib exostoses (HP:0000896)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Rib exostoses (HP:0000896)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Femoroacetabular impingement (HP:0030883)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Pelvic bone exostoses (HP:0003276)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Coxa vara (HP:0002812)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Short lower limbs (HP:0006385)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Multiple long-bone exostoses (HP:0005039)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Growth delay (HP:0001510)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Pseudoaneurysm (HP:0031625)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Osteochondroma (HP:0030431)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Gene: EXT1
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: CHONDROSARCOMA (OMIM:215300)
Gene: EXT1
Phenotype: Abnormality of the tarsal bones (HP:0001850)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Pain (HP:0012531)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT1
Phenotype: Talipes (HP:0001883)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: EXT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Poor speech (HP:0002465)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Motor delay (HP:0001270)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Bursitis (HP:0025232)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Seizure (HP:0001250)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Seizure (HP:0001250)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Seizure (HP:0001250)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Volvulus (HP:0002580)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Proteinuria (HP:0000093)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Arthritis (HP:0001369)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Micropenis (HP:0000054)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Urinary retention (HP:0000016)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Parietal foramina (HP:0002697)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Coxa valga (HP:0002673)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Deformed radius (HP:0003977)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Deformed forearm bones (HP:0003959)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Hemothorax (HP:0012151)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Tendon pain (HP:0032510)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Multiple exostoses (HP:0002762)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Abnormal cartilage morphology (HP:0002763)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Talipes valgus (HP:0004684)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Nausea (HP:0002018)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Constipation (HP:0002019)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Constipation (HP:0002019)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Myalgia (HP:0003326)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Tethered cord (HP:0002144)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)