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Metadata
ID DOID:0061298
PURL http://purl.obolibrary.org/obo/DOID_0061298 Copy
Name retinitis pigmentosa 100
Definition A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22.
https://pubmed.ncbi.nlm.nih.gov/37768732/
Xrefs

MIM:621280

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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