Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

Preferred Label : Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;

Symbol : EEMS;

CISMeF acronym : EEMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eem syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cadherin 3 gene (CDH3, 114021.0003);

Prefixed ID : #225280;

Détails

Origin ID

225280;

UMLS CUI

C1857041;

Automatic exact mappings (from CISMeF team)
- Ectodermal dysplasia - ectrodactyly - macular dystrophy [ICD-11 More detail]
- ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [DO Concept]
Currated CISMeF NLP mapping
- EEM syndrome [Disease (Nov.)]
- EEM syndrome [ORDO Disease]
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MeSH concept]
- ectodermal dysplasia, ectrodactyly, and macular dystrophy [MeSH Supplementary Concept]
DO Cross reference
- ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [DO Concept]
Genes related to phenotype
- Cadherin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Ectodermal dysplasia [HPO term]
- Joint contracture of the hand [HPO term]
- Macular dystrophy [HPO term]
- Microdontia [HPO term]
- Selective tooth agenesis [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Split hand [HPO term]
- Syndactyly [HPO term]
- Widely spaced teeth [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
- Hyperhidrosis [HPO term]
ORDO concept(s)
- EEM syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EEM syndrome [ORDO Disease]
- EEM syndrome [Disease (Nov.)]
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MeSH concept]
- ectodermal dysplasia, ectrodactyly, and macular dystrophy [MeSH Supplementary Concept]

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

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