Search Ontology:
Human Disease
retinitis pigmentosa 84
- Term ID
- DOID:0112141
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0112141 )
- is a type of
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