Anhidrotic Ectodermal Dysplasia 1

Preferred Label : Anhidrotic Ectodermal Dysplasia 1;

NCIt definition : A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the structures originating from the ectoderm.;

Details

Origin ID

C84562;

UMLS CUI

C0162359;

Currated CISMeF NLP mapping
- Ectodermal dysplasia 1, hypohidrotic, X-linked [OMIM Phenotype]
- Hypohidrotic X-linked ectodermal dysplasia (disorder) [SNOMED CT concept]
- X-linked hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 1 [DO Concept]
- ectodermal dysplasia 1, anhidrotic [MeSH Descriptor]
- ectodermal dysplasia 1, anhidrotic [MeSH concept]
- hypohidrotic ectodermal dysplasia x linked [Disease (Nov.)]
DO Cross reference
- ectodermal dysplasia 1 [DO Concept]
- hypohidrotic ectodermal dysplasia [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia 1, hypohidrotic, X-linked [OMIM Phenotype]
- Hypohidrotic X-linked ectodermal dysplasia (disorder) [SNOMED CT concept]
- Hypohidrotic ectodermal dysplasia [MedDRA LLT]
- Hypohidrotic ectodermal dysplasia [HPO term]
- X-linked hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 1 [DO Concept]
- ectodermal dysplasia 1, anhidrotic [MeSH concept]
- ectodermal dysplasia 1, anhidrotic [MeSH Descriptor]
- hypohidrotic ectodermal dysplasia [DO Concept]
- hypohidrotic ectodermal dysplasia [Disease (Nov.)]
- hypohidrotic ectodermal dysplasia syndrome, nos [SNOMED Notion]
- hypohidrotic ectodermal dysplasia x linked [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- EDA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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