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Metadata
ID DOID:0061105
Name retinitis pigmentosa 93
Definition A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
https://pubmed.ncbi.nlm.nih.gov/30267408/
Xrefs

MIM:619845

SKOS

exactMatch MIM:619845

Synonyms

RP93 [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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