(Q55999862)

English

cone-rod synaptic disorder, congenital nonprogressive

human disease

CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
CRSD
Night Blindness, Congenital Stationary, Type 2B, Formerly
Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive, Formerly
Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive
Night Blindness, Congenital Stationary, Type 2B

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Statements

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1 reference

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

congenital stationary night blindness

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genetic association

1 reference

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

http://www.orpha.net/ORDO/Orphanet_215

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Identifiers

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

UniProt disease ID

0 references

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