TaoMedAI/RareMedData huggingface dataset:
Gene: TBX1
Phenotype: Hypopigmented skin patches (HP:0001053)
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: Aphasia (HP:0002381)
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: Acne (HP:0001061)
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: Acne (HP:0001061)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Cholelithiasis (HP:0001081)
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: Cholelithiasis (HP:0001081)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pilonidal sinus (HP:0010769)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Intervertebral disk degeneration (HP:0008419)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Drooling (HP:0002307)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Multiple renal cysts (HP:0005562)
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: Amblyopia (HP:0000646)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Optic atrophy (HP:0000648)
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: Sclerocornea (HP:0000647)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Posterior embryotoxon (HP:0000627)
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 metabolism/homeostasis (HP:0001939)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Abnormality of the pharynx (HP:0000600)
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 pharynx (HP:0000600)
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: Anemia (HP:0001903)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Broad hallux (HP:0010055)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
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: Multiple suture craniosynostosis (HP:0011324)
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: Carious teeth (HP:0000670)
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 facial shape (HP:0001999)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Abnormal facial shape (HP:0001999)
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: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Short stature (HP:0004322)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: Hypoplastic left heart (HP:0004383)
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 palpebral fissure (HP:0012745)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Anorectal anomaly (HP:0012732)
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 thorax morphology (HP:0000765)
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: Anxiety (HP:0000739)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Anxiety (HP:0000739)
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: Motor stereotypy (HP:0000733)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Depression (HP:0000716)
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: Aggressive behavior (HP:0000718)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Autism (HP:0000717)
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: Autism (HP:0000717)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Emotional lability (HP:0000712)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Atypical behavior (HP:0000708)
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: Corneal neovascularization (HP:0011496)
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: Hypoplasia of the thymus (HP:0000778)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Hypoplasia of the thymus (HP:0000778)
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: Hypoplasia of the thymus (HP:0000778)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormal thymus morphology (HP:0000777)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Abnormal skull morphology (HP:0000929)
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: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX1
Phenotype: Parathyroid hypoplasia (HP:0000860)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Hyperthyroidism (HP:0000836)
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: Adrenocortical abnormality (HP:0000849)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Hypoparathyroidism (HP:0000829)
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: Hypoparathyroidism (HP:0000829)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Hypothyroidism (HP:0000821)
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 aortic arch (HP:0011590)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Tricuspid atresia (HP:0011662)
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: Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: TBX1
Phenotype: Single coronary artery origin (HP:0011640)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Purpura (HP:0000979)
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: Interrupted aortic arch (HP:0011611)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Cyanosis (HP:0000961)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Epicanthus (HP:0000286)
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: Epicanthus (HP:0000286)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Retrognathia (HP:0000278)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Abnormal superior vena cava morphology (HP:0025575)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Turricephaly (HP:0000262)
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 face (HP:0000275)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Long face (HP:0000276)
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: Malar flattening (HP:0000272)
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: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Hydrocephalus (HP:0000238)
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: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: High palate (HP:0000218)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Polyhydramnios (HP:0001561)
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: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Umbilical hernia (HP:0001537)
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: Pierre-Robin sequence (HP:0000201)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Failure to thrive (HP:0001508)
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: Intrauterine growth retardation (HP:0001511)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: CAT; Common aorticopulmonary trunk; Truncus arteriosus; Common arterial trunk (ORPHA:3384)
Gene: TBX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Growth delay (HP:0001510)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Obesity (HP:0001513)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Obesity (HP:0001513)
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)