Congenital heart defects, hamartomas of tongue, and polysyndactyly

Preferred Label : Congenital heart defects, hamartomas of tongue, and polysyndactyly;

Symbol : CHDTHP;

CISMeF acronym : CHDTHP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing planar cell polarity effector gene (WDPCP, 613580.0005);

Prefixed ID : #217085;

Détails

Origin ID

217085;

UMLS CUI

C1857587;

Automatic exact mappings (from CISMeF team)
- Heart defect, tongue hamartoma and polysyndactyly [MeSH concept]
- Heart defect-tongue hamartoma-polysyndactyly syndrome [ORDO Disease]
- Orstavik Lindemann Solberg syndrome [MeSH concept]
- congenital heart defects, hamartomas of tongue, and polysyndactyly [DO Concept]
- heart defect, tongue hamartoma and polysyndactyly [MeSH Supplementary Concept]
- orstavik lindemann solberg syndrome [MeSH Supplementary Concept]
DO Cross reference
- congenital heart defects, hamartomas of tongue, and polysyndactyly [DO Concept]
Genes related to phenotype
- Wd repeat-containing planar cell polarity effector [OMIM gene]
HPO term(s)
- 2-3 finger syndactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad hallux [HPO term]
- Coarctation of aorta [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Hamartoma of tongue [HPO term]
- Hypertelorism [HPO term]
- Postaxial hand polydactyly [HPO term]
- Subvalvular aortic stenosis [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
- Oral cleft [HPO term]
ORDO concept(s)
- Heart defect-tongue hamartoma-polysyndactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Orstavik Lindemann Solberg syndrome [MeSH concept]
- orstavik lindemann solberg syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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