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Metadata
ID DOID:0061107
Name retinitis pigmentosa 92
Definition A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22.
https://pubmed.ncbi.nlm.nih.gov/30085091/
Xrefs

MIM:619614

SKOS

exactMatch MIM:619614

Synonyms

RP92 [EXACT]

Parent Relationships

is_a retinitis pigmentosa

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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