Mitochondrial dna depletion syndrome 16b (neuroophthalmic type)

Preferred Label : Mitochondrial dna depletion syndrome 16b (neuroophthalmic type);

Symbol : MTDPS16B;

Type : Phenotype, molecular basis known;

Prefixed ID : #619425;

Details

Origin ID

619425;

UMLS CUI

C5543632;

Genes related to phenotype
- Polymerase, dna, gamma-2 [OMIM gene]
HPO term(s)
- Amenorrhea [HPO term]
- Anxiety [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Depression [HPO term]
- Difficulty walking [HPO term]
- Headache [HPO term]
- Open angle glaucoma [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Premature ovarian insufficiency [HPO term]
- Visual loss [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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