ZFIN Human Disease: congenital heart defects, hamartomas of tongue, and polysyndactyly

OBO ID: DOID:0111591

Term Name:	congenital heart defects, hamartomas of tongue, and polysyndactyly		Search Ontology:
Synonyms:	CHDTHP heart defect-tongue hamartoma-polysyndactyly syndrome Ostravik-Lindemann-Solberg syndrome
Definition:	A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. (2)
References:	GARD:4166 MESH:C535849 OMIM:217085 ORDO:1338 SNOMEDCT_US_2023_03_01:783738002 UMLS_CUI:C2931046
Ontology:	Human Disease ( DOID:0111591 )

Relationships

is a type of:	autosomal recessive disease physical disorder syndrome autosomal recessive disease physical disorder syndrome Show first 5 Terms

OTHER congenital heart defects, hamartomas of tongue, and polysyndactyly PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WDPCP	wdpcp	Congenital heart defects, hamartomas of tongue, and polysyndactyly	217085

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None