Wolfram syndrome, mitochondrial form

Preferred Label : Wolfram syndrome, mitochondrial form;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Didmoad syndrome, mitochondrial form; Diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form;

Inheritance : Mitochondrial form; also autosomal recessive;

Prefixed ID : #598500;

Details

Origin ID

598500;

UMLS CUI

C1838782;

Automatic exact mappings (from CISMeF team)
- Wolfram syndrome, mitochondrial form [DO Concept]
Broader ORDO disease(s)
- Wolfram syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- wolfram syndrome, mitochondrial form [MeSH concept]
- wolfram syndrome, mitochondrial form [MeSH Supplementary Concept]
DO Cross reference
- Wolfram syndrome, mitochondrial form [DO Concept]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormality of the skeletal system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Deafness [HPO term]
- Diabetes insipidus [HPO term]
- Diabetes mellitus [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Intellectual disability [HPO term]
- Megaloblastic anemia [HPO term]
- Mitochondrial inheritance [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sideroblastic anemia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Wolfram syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- wolfram syndrome, mitochondrial form [MeSH Supplementary Concept]
- wolfram syndrome, mitochondrial form [MeSH concept]

Keyword's position in hierarchy(ies) :

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