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 | |
SKOS |
exactMatch MIM:617781 |
Synonyms |
RP80 [EXACT] |
Parent Relationships |
is_a retinitis pigmentosa |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |