Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111591 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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