Search Ontology:
Human Disease

retinitis pigmentosa 84

Term ID
DOID:0112141
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models