ZFIN Human Disease: ischiocoxopodopatellar syndrome

OBO ID: DOID:0111382

Term Name:	ischiocoxopodopatellar syndrome		Search Ontology:
Synonyms:	congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis Scott-Taor syndrome small patella syndrome SPS
Definition:	A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. (2)
References:	GARD:3030 MESH:C535540 MESH:C536307 OMIM:147891 ORDO:1509 SNOMEDCT_US_2023_03_01:720752007 UMLS_CUI:C1840061 UMLS_CUI:C1868581
Ontology:	Human Disease ( DOID:0111382 )

Relationships

is a type of:	autosomal dominant disease dysostosis autosomal dominant disease dysostosis Show first 5 Terms

OTHER ischiocoxopodopatellar syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBX4	tbx4	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	147891

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None