TaoMedAI/RareMedData huggingface dataset:
Gene: EXT2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Peripheral nerve compression (HP:0003406)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Peripheral nerve compression (HP:0003406)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Exostoses (HP:0100777)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Exostoses (HP:0100777)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Chest pain (HP:0100749)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Forearm undergrowth (HP:0009821)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Bone fracture (HP:0020110)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Anemia (HP:0001903)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Short stature (HP:0004322)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Madelung-like forearm deformities (HP:0003068)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Short long bone (HP:0003026)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Autism (HP:0000717)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Protuberances at ends of long bones (HP:0003105)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Flat forehead (HP:0004425)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Scapular exostoses (HP:0000918)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Scapular exostoses (HP:0000918)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Hypertension (HP:0000822)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Abnormal lower limb bone morphology (HP:0040069)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Rib exostoses (HP:0000896)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Rib exostoses (HP:0000896)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Femoroacetabular impingement (HP:0030883)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Pelvic bone exostoses (HP:0003276)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Sparse hair (HP:0008070)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Encopresis (HP:0040183)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Coxa vara (HP:0002812)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Short lower limbs (HP:0006385)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Genu valgum (HP:0002857)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: High forehead (HP:0000348)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Pseudoaneurysm (HP:0031625)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Strabismus (HP:0000486)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Strabismus (HP:0000486)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Pes planus (HP:0001763)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Proximal 11p deletion syndrome; Potocki-Shaffer syndrome; 11p11.2 deletion (ORPHA:52022)
Gene: EXT2
Phenotype: Osteochondroma (HP:0030431)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Gene: EXT2
Phenotype: Abnormality of the tarsal bones (HP:0001850)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME (OMIM:616682)
Gene: EXT2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXT2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Seizures-scoliosis-macrocephaly syndrome; SSM syndrome (ORPHA:466926)
Gene: EXT2
Phenotype: Pain (HP:0012531)
Associated disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Gene: EXT2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXT2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)