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DO Term : retinitis pigmentosa 84 [DOID:0112141] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618220,
  • 618220,
  • RP84
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents