TaoMedAI/RareMedData huggingface dataset:
Gene: TCF4
Phenotype: Dilated superficial abdominal veins (HP:0030168)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Gene: TCF4
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Astigmatism (HP:0000483)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Astigmatism (HP:0000483)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Strabismus (HP:0000486)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Strabismus (HP:0000486)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Narrow foot (HP:0001786)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Narrow foot (HP:0001786)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Flared nostrils (HP:0000454)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Short neck (HP:0000470)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Short neck (HP:0000470)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Abnormal biliary tract morphology (HP:0012440)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Pes planus (HP:0001763)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Pes planus (HP:0001763)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Triangular nasal tip (HP:0000451)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Recurrent systemic pyogenic infections (HP:0005429)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Overlapping toe (HP:0001845)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Gene: TCF4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Uveitis (HP:0000554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Visual loss (HP:0000572)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Spider hemangioma (HP:0012522)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Abnormal eosinophil morphology (HP:0001879)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Myopia (HP:0000545)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Myopia (HP:0000545)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TBX3
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Stiff elbow (HP:0025259)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Axillary apocrine gland hypoplasia (HP:0007397)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Small scrotum (HP:0000046)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Micropenis (HP:0000054)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Aplasia of the ulna (HP:0003982)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Deformed radius (HP:0003977)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Absent radius (HP:0003974)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Anal stenosis (HP:0002025)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Anal atresia (HP:0002023)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Anal atresia (HP:0002023)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Aplasia of the 3rd finger (HP:0009460)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Short 5th toe (HP:0011917)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Hernia of the abdominal wall (HP:0004299)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Aplasia of the 5th metacarpal (HP:0010046)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Aplasia of the 3rd metacarpal (HP:0010040)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Aplasia of the 4th metacarpal (HP:0010043)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Short stature (HP:0004322)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Young adult onset (HP:0011462)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Inverted nipples (HP:0003186)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Short humerus (HP:0005792)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Aplasia of the 4th finger (HP:0009281)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Short clavicles (HP:0000894)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Aplasia of the 5th finger (HP:0009238)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Short 5th finger (HP:0009237)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Short 4th toe (HP:0008093)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Imperforate hymen (HP:0030011)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Obesity (HP:0001513)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Obesity (HP:0001513)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Absent hand (HP:0004050)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Gene: TBX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)