TaoMedAI/RareMedData huggingface dataset:
Gene: TBX1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Small earlobe (HP:0000385)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Unilateral primary pulmonary dysgenesis (HP:0006549)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Long philtrum (HP:0000343)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: High forehead (HP:0000348)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormal aortic arch morphology (HP:0012303)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Tachycardia (HP:0001649)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Short philtrum (HP:0000322)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Short philtrum (HP:0000322)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Anomalous origin of the left common carotid artery from the brachiocephalic artery (HP:0031635)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Strabismus (HP:0000486)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Short neck (HP:0000470)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Wide nose (HP:0000445)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Abnormal coronary artery morphology (HP:0006704)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Cataract (HP:0000518)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX1
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Telecanthus (HP:0000506)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Ptosis (HP:0000508)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Ptosis (HP:0000508)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Exotropia (HP:0000577)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)