Inflammatory Bowel Disease 28

Preferred Label : Inflammatory Bowel Disease 28;

NCIt synonyms : IBD28;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation.;

Details

Origin ID

C164676;

UMLS CUI

C2751053;

Currated CISMeF NLP mapping
- Inflammatory bowel disease 28, autosomal recessive [OMIM Phenotype]
- inflammatory bowel disease 28 [DO Concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH Supplementary Concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Intestine [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inflammatory bowel disease 28, autosomal recessive [OMIM Phenotype]
- inflammatory bowel disease 28, autosomal recessive [MeSH Supplementary Concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Intestine [NCIt concept]
disease_mapped_to_gene
- IL10RA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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