Inflammatory skin and bowel disease, neonatal, 2

Preferred Label : Inflammatory skin and bowel disease, neonatal, 2;

Symbol : NISBD2;

CISMeF acronym : NISBD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the epidermal growth factor gene (EGFR, 131550.0007);

Prefixed ID : #616069;

Details

Origin ID

616069;

UMLS CUI

C4015130;

Automatic exact mappings (from CISMeF team)
- EGFR wt Allele [NCIt concept]
Genes related to phenotype
- Epidermal growth factor receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Edema [HPO term]
- Epidermal acanthosis [HPO term]
- Failure to thrive [HPO term]
- Hypertension [HPO term]
- Long eyelashes [HPO term]
- Papule [HPO term]
- Pustule [HPO term]
- Recurrent bronchiolitis [HPO term]
- Recurrent pneumonia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Neonatal inflammatory skin and bowel disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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