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Metadata
ID DOID:0061108
Name retinitis pigmentosa 79
Definition A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22.
https://pubmed.ncbi.nlm.nih.gov/25190649/
Xrefs

MIM:617460

SKOS

exactMatch MIM:617460

Synonyms

RP79 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a retinitis pigmentosa

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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