Term Name: | retinitis pigmentosa 84 |
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Synonyms: | RP84 |
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. |
Ontology: | Human Disease [DOID:0112141] ( DOID:0112141 ) |