Wolfram syndrome 2

Preferred Label : Wolfram syndrome 2;

Symbol : WFS2;

CISMeF acronym : WFS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CDGSH iron sulfur domain protein 2 gene (CISD2, 611507.0001);

Prefixed ID : #604928;

Détails

Origin ID

604928;

UMLS CUI

C1858028;

Automatic exact mappings (from CISMeF team)
- CISD2 wt Allele [NCIt concept]
- symbol withdrawn WFS2 [HGNC gene]
Broader ORDO disease(s)
- Wolfram syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Wolfram syndrome 2 [DO Concept]
- Wolfram syndrome type 2 [Disease (Nov.)]
- wolfram syndrome 2 [MeSH concept]
- wolfram syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Wolfram syndrome 2 [DO Concept]
Genes related to phenotype
- Cdgsh iron sulfur domain protein 2 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Depression [HPO term]
- Diabetes mellitus [HPO term]
- Gastric ulcer [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Neurogenic bladder [HPO term]
- Oligomenorrhea [HPO term]
- Optic atrophy [HPO term]
- Optic neuropathy [HPO term]
- Primary amenorrhea [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Diabetes insipidus [HPO term]
ORDO concept(s)
- Wolfram syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wolfram syndrome 2 [DO Concept]
- Wolfram syndrome type 2 [Disease (Nov.)]
- wolfram syndrome 2 [MeSH Supplementary Concept]
- wolfram syndrome 2 [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients