Inflammatory bowel disease 25, autosomal recessive

Preferred Label : Inflammatory bowel disease 25, autosomal recessive;

Symbol : IBD25;

CISMeF acronym : IBD25;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Inflammatory bowel disease, early-onset, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gene encoding interleukin 10 receptor, beta (IL10RB, 123889.0002);

Prefixed ID : #612567;

Détails

Origin ID

612567;

UMLS CUI

C2675508;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive early-onset inflammatory bowel disease [ICD-11 More detail]
- inflammatory bowel disease 25 [DO Concept]
Currated CISMeF NLP mapping
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome [ORDO Disease]
- inflammatory bowel disease 25, autosomal recessive [MeSH concept]
- inflammatory bowel disease 25, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- inflammatory bowel disease 25 [DO Concept]
Genes related to phenotype
- Interleukin 10 receptor, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Enterocolitis [HPO term]
- Enterocutaneous fistula [HPO term]
- Folliculitis [HPO term]
- Infantile onset [HPO term]
- Pancolitis [HPO term]
- Perianal abscess [HPO term]
- Rectovaginal fistula [HPO term]
- Recurrent bronchitis [HPO term]
ORDO concept(s)
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome [ORDO Disease]
- inflammatory bowel disease 25, autosomal recessive [MeSH Supplementary Concept]
- inflammatory bowel disease 25, autosomal recessive [MeSH concept]

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

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