Inflammatory skin and bowel disease, neonatal, 1

Preferred Label : Inflammatory skin and bowel disease, neonatal, 1;

Symbol : NISBD1;

CISMeF acronym : NISBD1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADAM metallopeptidase domain 17 gene (ADAM17, 603639.0001);

Prefixed ID : #614328;

Details

Origin ID

614328;

UMLS CUI

C3280501;

Automatic exact mappings (from CISMeF team)
- ADAM17 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Neonatal inflammatory skin and bowel disease [ORDO Disease]
- Neonatal inflammatory skin and bowel disease (disorder) [SNOMED CT concept]
Genes related to phenotype
- A disintegrin and metalloproteinase domain 17 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharitis [HPO term]
- Bloody diarrhea [HPO term]
- Duodenitis [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Increased circulating IgE level [HPO term]
- Onychogryposis [HPO term]
- Otitis externa [HPO term]
- Paronychia [HPO term]
- Perianal erythema [HPO term]
- Perioral erythema [HPO term]
- Pustule [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Neonatal inflammatory skin and bowel disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal inflammatory skin and bowel disease [ORDO Disease]

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