congenital heart defects, hamartomas of tongue, and polysyndactyly

Summary

DOID:0111591 - congenital heart defects, hamartomas of tongue, and polysyndactyly

Disease Ontology 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.

Synonyms: CHDTHP, Ostravik-Lindemann-Solberg syndrome, heart defect-tongue hamartoma-polysyndactyly syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: wdpcp

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), physical disorder (is_a), syndrome (is_a)