OBO ID: DOID:0112141
Term Name: retinitis pigmentosa 84 Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0112141 )
OTHER retinitis pigmentosa 84 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DHX38 Retinitis pigmentosa 84 618220
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None