TaoMedAI/RareMedData huggingface dataset:
Gene: SHMT2
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Scissor gait (HP:0012407)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHMT2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Gene: SHOX
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Short femoral neck (HP:0100864)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Mesomelic short stature (HP:0008845)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Broad ulna (HP:0003993)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Coxa valga (HP:0002673)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Mesomelic/rhizomelic limb shortening (HP:0005026)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Multiple exostoses (HP:0002762)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SHORT STATURE, IDIOPATHIC, X-LINKED (OMIM:300582)
Gene: SHOX
Phenotype: Abnormal femoral neck morphology (HP:0003367)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Episodic ketoacidosis (HP:0005974)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Exostoses (HP:0100777)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Severe short stature (HP:0003510)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Lower limb undergrowth (HP:0009816)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Forearm undergrowth (HP:0009821)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, IDIOPATHIC, X-LINKED (OMIM:300582)
Gene: SHOX
Phenotype: Short stature (HP:0004322)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Madelung deformity (HP:0003067)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Madelung deformity (HP:0003067)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Madelung deformity (HP:0003067)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Madelung deformity (HP:0003067)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Madelung deformity (HP:0003067)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Mesomelia (HP:0003027)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Mesomelia (HP:0003027)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Mesomelia (HP:0003027)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Increased carrying angle (HP:0003102)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Increased carrying angle (HP:0003102)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Short tibia (HP:0005736)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Short tibia (HP:0005736)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Short tibia (HP:0005736)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Ulnar radial head dislocation (HP:0005856)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Dorsal subluxation of ulna (HP:0006459)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Dorsal subluxation of ulna (HP:0006459)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Rudimentary fibula (HP:0006381)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: High palate (HP:0000218)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: High palate (HP:0000218)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: High palate (HP:0000218)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: High palate (HP:0000218)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Genu valgum (HP:0002857)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Obesity (HP:0001513)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Aplasia/Hypoplasia of the fibula (HP:0006492)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Micrognathia (HP:0000347)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Tibial bowing (HP:0002982)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SHOX-related short stature (ORPHA:314795)