Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive

Preferred Label : Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive;

Symbol : IBD31;

Type : Phenotype, molecular basis known;

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

Prefixed ID : #619398;

Details

Origin ID

619398;

UMLS CUI

C5444224;

Automatic exact mappings (from CISMeF team)
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome [ORDO Disease]
Genes related to phenotype
- Interleukin 37 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bloody diarrhea [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Infantile onset [HPO term]
- Leukocytosis [HPO term]
- Motor delay [HPO term]
- Ulcerative colitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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