Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3

Preferred Label : Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3;

MeSH note : mutation in TP63;

CISMeF synonym : ectrodactyly, ectodermal dysplasia, and cleft Lip/Palate syndrome 3;

MeSH synonym : EEC syndrome 3; EEC3;

Details

Origin ID

C565799;

UMLS CUI

C1858562;

CISMeF manual mappings
- ectrodactyly ectodermal dysplasia cleft syndrome 3 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [OMIM Phenotype]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
MeSH term(s) associated for indexing
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
- fingers [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
Record concept(s)
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [OMIM Phenotype]
- ectrodactyly ectodermal dysplasia cleft syndrome 3 [Disease (Nov.)]

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