cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome Disease Ontology Browser

Disease Ontology Browser

cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (DOID:0050997)
Alliance: disease page
Synonyms: CAMRQ; CAMRQ syndrome; cerebellar ataxia and mental retardation with or without quadrupedal locomotion; cerebellar ataxia, mental retardation, and disequilibrium syndrome; cerebellar ataxia, mental retardation, and dysequilibrium syndrome; DES; disequilibrium syndrome; dysequilibrium syndrome; Uner Tan syndrome; UTS
Alt IDs: MESH:C535731, OMIM:PS224050, ORDO:1766, UMLS_CUI:C0394006
Definition: A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

Disease References using Mouse Models (2)

Allelic Composition	Genetic Background	Reference	Phenotypes
Atp8a2wl-vmd/Atp8a2wl-vmd	C3H/HeSnJ-Atp8a2^wl-vmd/J	J:222308	View
Atp8a2wl-3J/Atp8a2wl-3J	CBA/J-Atp8a2^wl-3J/J	J:222308	View
Atp8a2wl/Atp8a2wl	involves: C57BL/6J	J:222308	View
Atp8a2wl/Atp8a2wl	Not Specified	J:222308	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Car8wdl/Car8wdl	C57BLKS/J-Car8^wdl/GrsrJ	J:230904	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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