congenital heart defects, hamartomas of tongue, and polysyndactyly

Term ID

DOID:0111591

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 )