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Metadata
ID DOID:0061103
Name retinitis pigmentosa 76
Definition A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.
https://pubmed.ncbi.nlm.nih.gov/27391550/
Xrefs

MIM:617123

SKOS

exactMatch MIM:617123

Synonyms

RP76 [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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