FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital heart defects, hamartomas of tongue, and polysyndactyly ID (Ontology) DOID:0111591 (Human Disease)
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.
Also Known As "CHDTHP" ; "heart defect-tongue hamartoma-polysyndactyly syndrome" ; "Ostravik-Lindemann-Solberg syndrome"
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 Genes
 congenital heart defects, hamartomas of tongue, and polysyndactyly       1
 for disease ribbon | congenital heart defects, hamartomas of tongue, and polysyndactyly       1
 model of | congenital heart defects, hamartomas of tongue, and polysyndactyly       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__physical disorder____________|
 |__syndrome_____________________|
                                 congenital heart defects, hamartomas of tongue, and polysyndactyly  1 rec.
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Is a autosomal recessive disease
physical disorder
syndrome
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Synonyms
  • "CHDTHP" EXACT OMO:0003012
    "heart defect-tongue hamartoma-polysyndactyly syndrome" EXACT
    "Ostravik-Lindemann-Solberg syndrome" EXACT
Secondary IDs
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GARD:4166
MESH:C535849
MIM:217085
ORDO:1338
SNOMEDCT_US_2023_03_01:783738002
UMLS_CUI:C2931046