TaoMedAI/RareMedData huggingface dataset:
Gene: SGCG
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Long face (HP:0000276)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGCG
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 (OMIM:253700)
Gene: SGCG
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Limb-girdle muscular dystrophy type 2C; LGMD type 2C; Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Gamma-sarcoglycan-related LGMD R5; Gamma-sarcoglycanopathy; LGMD2C; LGMD due to gamma-sarcoglycan deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2C; Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353)
Gene: SGSH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Seizure (HP:0001250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Diarrhea (HP:0002014)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Ovoid thoracolumbar vertebrae (HP:0003309)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Synophrys (HP:0000664)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Thickened ribs (HP:0000900)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity (HP:4000193)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Dense calvaria (HP:0000250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Gene: SGSH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SGSH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SGSH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Central giant cell lesion of the jaw (HP:6000715)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Bone cyst (HP:0012062)
Associated disease: Cherubism; CRBM (ORPHA:184)
Gene: SH3BP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cherubism; CRBM (ORPHA:184)
Gene: SH3BP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Narrow palate (HP:0000189)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cherubism; CRBM (ORPHA:184)
Gene: SH3BP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Cherubism; CRBM (ORPHA:184)
Gene: SH3BP2
Phenotype: Submandibular lymph node enlargement (HP:0033176)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Marcus Gunn pupil (HP:0200057)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Macular scar (HP:0200056)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cherubism; CRBM (ORPHA:184)
Gene: SH3BP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Oligodontia (HP:0000677)
Associated disease: Cherubism; CRBM (ORPHA:184)
Gene: SH3BP2
Phenotype: Oligodontia (HP:0000677)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CHERUBISM (OMIM:118400)
Gene: SH3BP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3BP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3BP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)