congenital heart defects, hamartomas of tongue, and polysyndactyly Disease Ontology Browser

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Disease Ontology Browser

congenital heart defects, hamartomas of tongue, and polysyndactyly (DOID:0111591)
Alliance: disease page
Synonyms: CHDTHP; heart defect-tongue hamartoma-polysyndactyly syndrome; Ostravik-Lindemann-Solberg syndrome
Alt IDs: OMIM:217085, MESH:C535849, ORDO:1338, UMLS_CUI:C2931046
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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