Cleft lip/palate-ectodermal dysplasia syndrome

Preferred Label : Cleft lip/palate-ectodermal dysplasia syndrome;

Symbol : CLPED1;

CISMeF acronym : CLPED1; ED4; OFC7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Zlotogora-ogur syndrome; Ectodermal dysplasia, margarita island type; Ectodermal dysplasia, type 4; Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly; ED4;

Included titles and symbols : Orofacial cleft 7; Cleft lip with or without cleft palate, nonsyndromic, 7; OFC7;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the poliovirus receptor-like 1 gene (PVRL1, 600644.0001);

Prefixed ID : #225060;

Détails

Origin ID

225060;

UMLS CUI

C2931488;

Automatic exact mappings (from CISMeF team)
- Cleft lip with or without cleft palate [ORDO Disease]
- NECTIN1 wt Allele [NCIt concept]
- Zlotogora-Ogur syndrome [ICD-11 More detail]
- cleft lip with or without cleft palate, nonsyndromic, 7 [MeSH Supplementary Concept]
- cleft lip with or without cleft palate, nonsyndromic, 7 [MeSH concept]
- nectin cell adhesion molecule 1 [ORDO Gene]
- nectin cell adhesion molecule 1 [HGNC gene]
- orofacial cleft 7 [DO Concept]
- orofacial cleft 7 [MeSH concept]
- orofacial cleft 7 [MeSH Supplementary Concept]
- symbol withdrawn ED4 [HGNC gene]
Currated CISMeF NLP mapping
- Cleft Lip/Palate-Ectodermal Dysplasia Syndrome [NCIt 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]
- Zlotogora-Ogur syndrome [MeSH concept]
- Zlotogora-Ogur syndrome [MeSH Supplementary Concept]
- cleft lip-palate-ectodermal dysplasia syndrome [DO Concept]
DO Cross reference
- cleft lip-palate-ectodermal dysplasia syndrome [DO Concept]
Genes related to phenotype
- Nectin cell adhesion molecule 1 [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Abnormality of the ear [HPO term]
- Abnormality of the philtrum [HPO term]
- Anodontia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Ectodermal dysplasia [HPO term]
- Hypodontia [HPO term]
- Malar flattening [HPO term]
- Microdontia [HPO term]
- Nail dysplasia [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Progressive hypotrichosis [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Triangular face [HPO term]
Not associated HPO term(s)
- Hyperhidrosis [HPO term]
ORDO concept(s)
- Cleft lip and alveolus [ORDO Disease]
- Cleft lip/palate [ORDO Disease]
- Cleft lip/palate-ectodermal dysplasia syndrome [ORDO Disease]
- Isolated cleft lip [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleft Lip/Palate-Ectodermal Dysplasia Syndrome [NCIt 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]
- Zlotogora-Ogur syndrome [MeSH Supplementary Concept]
- Zlotogora-Ogur syndrome [MeSH concept]
- cleft lip-palate-ectodermal dysplasia syndrome [DO Concept]

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