TaoMedAI/RareMedData huggingface dataset:
Gene: TBX1
Phenotype: Tetany (HP:0001281)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Tetany (HP:0001281)
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: Intellectual disability, mild (HP:0001256)
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: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Seizure (HP:0001250)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Intestinal malrotation (HP:0002566)
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 immune system physiology (HP:0010978)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Arteria lusoria (HP:0031014)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Renal hypoplasia (HP:0000089)
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: Renal insufficiency (HP:0000083)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Vesicoureteral reflux (HP:0000076)
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: Arthritis (HP:0001369)
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: Joint hypermobility (HP:0001382)
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: Right aortic arch (HP:0012020)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Hypospadias (HP:0000047)
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: Inguinal hernia (HP:0000023)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Inguinal hernia (HP:0000023)
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: Inguinal hernia (HP:0000023)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Esophoria (HP:0025312)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Platybasia (HP:0002691)
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: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Specific learning disability (HP:0001328)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Specific learning disability (HP:0001328)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Varicose veins (HP:0002619)
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: Parkinsonism (HP:0001300)
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: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Bowel incontinence (HP:0002607)
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: Open mouth (HP:0000194)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormality of the dentition (HP:0000164)
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: Narrow mouth (HP:0000160)
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: Submucous cleft hard palate (HP:0000176)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
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 uterus (HP:0000130)
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: Tachypnea (HP:0002789)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Immunodeficiency (HP:0002721)
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: Anal atresia (HP:0002023)
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: Gastroesophageal reflux (HP:0002020)
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: Gastroesophageal reflux (HP:0002020)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Constipation (HP:0002019)
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: Myalgia (HP:0003326)
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: Midface retrusion (HP:0011800)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Asthma (HP:0002099)
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: Asthma (HP:0002099)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Arrhinencephaly (HP:0002139)
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 lung lobation (HP:0002101)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Abnormal lung lobation (HP:0002101)
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 speech pattern (HP:0002167)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Parathyroid agenesis (HP:0008211)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Aplasia/Hypoplasia of the thymus (HP:0010515)
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 T cell physiology (HP:0011840)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Abnormality of T cell physiology (HP:0011840)
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: Gastrointestinal hemorrhage (HP:0002239)
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: Aganglionic megacolon (HP:0002251)
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 tonsils (HP:0100765)
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: Hypertensive crisis (HP:0100735)
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: Atelectasis (HP:0100750)
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: Atelectasis (HP:0100750)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Schizophrenia (HP:0100753)
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: Schizophrenia (HP:0100753)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Paranoia (HP:0011999)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
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: Accommodative esotropia (HP:0020046)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Seborrheic dermatitis (HP:0001051)
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: Seborrheic dermatitis (HP:0001051)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)