wolfram syndrome, mitochondrial form

Preferred Label : wolfram syndrome, mitochondrial form;

MeSH note : PROM mutation in WFS1;

MeSH synonym : DIDMOAD syndrome, mitochondrial form; diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form;

Détails

Origin ID

C564012;

UMLS CUI

C1838782;

Automatic exact mappings (from CISMeF team)
- Wolfram syndrome, mitochondrial form [DO Concept]
Currated CISMeF NLP mapping
- Wolfram syndrome, mitochondrial form [OMIM Phenotype]
MeSH term(s) associated for indexing
- diabetes insipidus [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- optic atrophies, hereditary [MeSH Descriptor]
Record concept(s)
- wolfram syndrome, mitochondrial form [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wolfram syndrome, mitochondrial form [OMIM Phenotype]

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

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