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Metadata
ID DOID:0061111
Name retinitis pigmentosa 80
Definition A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
https://pubmed.ncbi.nlm.nih.gov/26359340/
Xrefs

MIM:617781

SKOS

exactMatch MIM:617781

Synonyms

RP80 [EXACT]

Parent Relationships

is_a retinitis pigmentosa

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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