|  Help  |  About  |  Contact Us

DO Term : congenital heart defects, hamartomas of tongue, and polysyndactyly [DOID:0111591] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • UMLS_CUI:C2931046,
  • SNOMEDCT_US_2023_03_01:783738002,
  • 217085,
  • MESH:C535849,
  • Ostravik-Lindemann-Solberg syndrome,
  • OMIM:217085,
  • GARD:4166,
  • ORDO:1338,
  • heart defect-tongue hamartoma-polysyndactyly syndrome,
  • CHDTHP
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents