TaoMedAI/RareMedData huggingface dataset:
Gene: TBX5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Unroofed coronary sinus (HP:0031297)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Aplasia of the 3rd finger (HP:0009460)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Atrioventricular dissociation (HP:0011709)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Small hypothenar eminence (HP:0010487)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Radial deviation of the hand (HP:0009486)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Hypoplasia of right ventricle (HP:0004762)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Distally placed thumb (HP:0009622)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short digit (HP:0011927)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Y-shaped metatarsals (HP:0010567)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Aplasia of the 2nd finger (HP:0009535)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Congenital onset (HP:0003577)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: 1-2 finger cutaneous syndactyly (HP:0010704)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Atrial septal dilatation (HP:0011995)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Phocomelia (HP:0009829)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Phocomelia (HP:0009829)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Amelia involving the upper limbs (HP:0009812)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Upper limb phocomelia (HP:0009813)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Absent thumb (HP:0009777)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Absent thumb (HP:0009777)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short thumb (HP:0009778)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Broad thumb (HP:0011304)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Second trimester onset (HP:0034198)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Narrow chest (HP:0000774)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short forearm (HP:0005773)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Shield chest (HP:0000914)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX5
Phenotype: Short humerus (HP:0005792)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Aplasia of the distal phalanx of the 4th toe (HP:0100379)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Duplication of the distal phalanx of the 3rd toe (HP:0100398)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Sinus venosus atrial septal defect (HP:0011567)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Common atrium (HP:0011565)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Short clavicles (HP:0000894)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Abnormal coronary artery origin (HP:0011636)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Sacral dimple (HP:0000960)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Kyphosis (HP:0002808)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: High palate (HP:0000218)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Long philtrum (HP:0000343)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX5
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Micrognathia (HP:0000347)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Radial bowing (HP:0002986)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Hypoplasia of deltoid muscle (HP:0030241)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Short neck (HP:0000470)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Meningocele (HP:0002435)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)