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Preferred Name

CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
Synonyms

CHDTHP
ID

http://purl.bioontology.org/ontology/OMIM/217085
altLabel

CHDTHP
cui

C1857587
Gene Locus

2p15
Gene Symbol

CHDTHP

WDPCP

BBS15

C2orf86
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000492

http://purl.bioontology.org/ontology/OMIM/MTHU018111

http://purl.bioontology.org/ontology/OMIM/MTHU004003

http://purl.bioontology.org/ontology/OMIM/MTHU070572

http://purl.bioontology.org/ontology/OMIM/MTHU045366

http://purl.bioontology.org/ontology/OMIM/MTHU045364

http://purl.bioontology.org/ontology/OMIM/MTHU002571

http://purl.bioontology.org/ontology/OMIM/MTHU045368

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU007070

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU045369

http://purl.bioontology.org/ontology/OMIM/MTHU045365

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU045363

http://purl.bioontology.org/ontology/OMIM/MTHU045361

http://purl.bioontology.org/ontology/OMIM/MTHU045367
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

217085
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
Scope Statement

Caused by mutation in the WD repeat-containing planar cell polarity effector gene (WDPCP, 613580.0005) [MOLECULAR BASIS]

Based on reports of 1 female and 1 male patient (last curated September 2020) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111591 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537137 Medical Subject Headings / 医学主题词表 CUI