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Metadata
ID DOID:0111790
Name congenital nystagmus 1
Definition A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26.
https://www.ncbi.nlm.nih.gov/pubmed/17013395
Xrefs

GARD:2969

MIM:310700

Subsets

DO_rare_slim

Synonyms

congenital motor nystagmus 1 [EXACT]

NYS1 [EXACT]

X-linked infantile nystagmus 1 [EXACT]

Parent Relationships

is_a congenital nystagmus

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

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