Search Ontology:
Human Disease
congenital heart defects, hamartomas of tongue, and polysyndactyly
- Term ID
- DOID:0111591
- Synonyms
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- 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
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- GARD:4166
- MESH:C535849
- MIM:217085
- ORDO:1338
- SNOMEDCT_US_2023_03_01:783738002
- UMLS_CUI:C2931046
- Ontology
- Human Disease ( DOID:0111591 )
- is a type of
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Genes Involved
Zebrafish Models