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Metadata
ID DOID:0112141
Name retinitis pigmentosa 84
Definition A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2.
https://pubmed.ncbi.nlm.nih.gov/24737827/, https://pubmed.ncbi.nlm.nih.gov/30208423/
Xrefs

MIM:618220

Synonyms

RP84 [EXACT]

Parent Relationships

is_a retinitis pigmentosa

is_a autosomal recessive disease

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