Cleft Lip/Palate-Ectodermal Dysplasia Syndrome

Preferred Label : Cleft Lip/Palate-Ectodermal Dysplasia Syndrome;

NCIt synonyms : CLPED1;

NCIt definition : A very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes.;

Details

Origin ID

C122656;

UMLS CUI

C2931488;

Currated CISMeF NLP mapping
- Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- Cleft lip/palate-ectodermal dysplasia syndrome [OMIM Phenotype]
- Cleft lip/palate-ectodermal dysplasia syndrome [ORDO Disease]
- Cleft lip/palate-ectodermal dysplasia syndrome [ORDO Disease]
- Zlotogora-Ogur syndrome [MeSH Supplementary Concept]
- Zlotogora-Ogur syndrome [MeSH concept]
- cleft lip-palate-ectodermal dysplasia syndrome [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- nectin cell adhesion molecule 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- Cleft lip/palate-ectodermal dysplasia syndrome [ORDO Disease]
- Cleft lip/palate-ectodermal dysplasia syndrome [ORDO Disease]
- Cleft lip/palate-ectodermal dysplasia syndrome [OMIM Phenotype]
- Zlotogora-Ogur syndrome [MeSH Supplementary Concept]
- Zlotogora-Ogur syndrome [MeSH concept]
- cleft lip-palate-ectodermal dysplasia syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- NECTIN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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