Ectodermal Dysplasia and Immunodeficiency 2

Preferred Label : Ectodermal Dysplasia and Immunodeficiency 2;

NCIt synonyms : Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant; EDAID2; Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2; Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2;

NCIt related terms : Autosomal Dominant Anhidrotic Ectodermal Dysplasia;

NCIt definition : A rare disorder caused by mutations in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.;

Details

Origin ID

C176826;

UMLS CUI

C2677481;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant hypohidrotic ectodermal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Ectodermal dysplasia and immunodeficiency 2 [OMIM Phenotype]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia and immunodeficiency 2 [OMIM Phenotype]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NFKBIA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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