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congenital stationary night blindness 1C

http://purl.obolibrary.org/obo/DOID_0110867

A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

congenital stationary night blindness 1C

Synonyms

CSNB1C
congenital stationary night blindness 1C autosomal recessive

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disease_ontology

DOID:0110867

Term relations

Subclass of:

autosomal recessive disease
congenital stationary night blindness
has material basis in some autosomal recessive inheritance