Inflammatory bowel disease 28, autosomal recessive

Preferred Label : Inflammatory bowel disease 28, autosomal recessive;

Symbol : IBD28;

CISMeF acronym : IBD28;

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 interleukin 10 receptor, alpha gene (IL10RA, 146933.0001);

Prefixed ID : #613148;

Détails

Origin ID

613148;

UMLS CUI

C2751053;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive early-onset inflammatory bowel disease [ICD-11 More detail]
- IL10RA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Inflammatory Bowel Disease 28 [NCIt concept]
- inflammatory bowel disease 28 [DO Concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- inflammatory bowel disease 28 [DO Concept]
Genes related to phenotype
- Interleukin 10 receptor, alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Colitis [HPO term]
- Crohn's disease [HPO term]
- Enterocolitis [HPO term]
- Folliculitis [HPO term]
- Growth delay [HPO term]
- Hematochezia [HPO term]
- Oral ulcer [HPO term]
- Perianal abscess [HPO term]
- Pyoderma [HPO term]
ORDO concept(s)
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome [ORDO Disease]
See also inter- (CISMeF)
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inflammatory Bowel Disease 28 [NCIt concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH Supplementary Concept]
- inflammatory bowel disease 28, autosomal recessive [MeSH concept]

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

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