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Metadata
ID DOID:0051098
PURL http://purl.obolibrary.org/obo/DOID_0051098 Copy
Name retinitis pigmentosa 107
Definition A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduced visual acuity and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP20 gene on chromosome 16q21.
https://pubmed.ncbi.nlm.nih.gov/35246562/, https://pubmed.ncbi.nlm.nih.gov/36329026/
Xrefs

MIM:621587

Parent Relationships

is_a retinitis pigmentosa

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Adult onset

has material basis in some autosomal recessive inheritance

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