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Entry	Name	Description	Category	Gene
H00107	Other well-defined immunodeficiency syndromes	Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions ...	Primary immunodeficiency	WAS [HSA:7454] [KO:K05747] TBX1 [HSA:6899] [KO:K10175] STAT3 [HSA:6774] [KO:K04692] TYK2 [HSA:7297] [KO:K11219] SH2D1A [HSA:4068] [KO:K07990] XIAP [HSA:331] [KO:K04725] ITK [HSA:3702] [KO:K07363] AIRE [HSA:326] [KO:K10603] FOXP3 [HSA:50943] [KO:K10163] RMRP [HSA:6023] [KO:K14576]
H00549	Tetralogy of Fallot	The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from ...	Congenital malformation	NKX2-5 [HSA:1482] [KO:K09345] JAG1 [HSA:182] [KO:K06052] ZFPM2 [HSA:23414] [KO:K17442] GATA4 [HSA:2626] [KO:K09183] GATA6 [HSA:2627] [KO:K17897] TBX1 [HSA:6899] [KO:K10175] GDF1 [HSA:2657] [KO:K05495]
H00873	Cousin syndrome Pelviscapular dysplasia	... pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency.	Congenital malformation	TBX15 [HSA:6913] [KO:K10182]
H01004	Velocardiofacial syndrome	Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive ...	Chromosomal abnormality	TBX1 [HSA:6899] [KO:K10175] DGCR2 [HSA:9993] DGCR6 [HSA:8214] DGCR8 [HSA:54487] [KO:K18419] ESS2 [HSA:8220] [KO:K13118]
H01011	Adrenocorticotropic hormone deficiency Isolated ACDH deficiency	... be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation ...	Endocrine and metabolic disease	TBX19 [HSA:9095] [KO:K10184]
H01524	DiGeorge syndrome	... with the phenotypic features of this syndrome have no detectable genomic deletion. Several mutations in TBX1 have been identified recently in non-deleted patients, including missense and frameshift mutations	Primary immunodeficiency	TBX1 [HSA:6899] [KO:K10175]
H01525	22q11.2 deletion syndrome CATCH22	The 22q11.2 deletion syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in 3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 ...	Chromosomal abnormality	TBX1 [HSA:6899] [KO:K10175]
H01867	Congenital anomalies of kidney and urinary tract	Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent ...	Congenital malformation	(CAKUT1) DSTYK [HSA:25778] [KO:K16288] (CAKUT2) TBX18 [HSA:9096] [KO:K10183] (CAKUT3) NRIP1 [HSA:8204] [KO:K17965] (CAKUTHED) PBX1 [HSA:5087] [KO:K09355]

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