Ectodermal Dysplasia and Immunodeficiency

Preferred Label : Ectodermal Dysplasia and Immunodeficiency;

NCIt synonyms : Anhidrotic Ectodermal Dysplasia with Immune Deficiency; EDA-ID; Hypohidrotic Ectodermal Dysplasia with Immune Deficiency;

NCIt definition : A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or 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

C118844;

UMLS CUI

C1846006;

Currated CISMeF NLP mapping
- Anhidrotic ectodermal dysplasia with immune deficiency (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH concept]
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anhidrotic ectodermal dysplasia with immune deficiency (disorder) [SNOMED CT concept]
- Ectodermal dysplasia and immunodeficiency 1 [OMIM Phenotype]
- Ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH concept]
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Ectodermal dysplasia and immunodeficiency 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- IKBKG Gene [NCIt concept]
- NFKBIA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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