Details of Disease

General Information of Disease (ID: DISI8BH2)

Disease Name Cone-rod dystrophy 11
Synonyms cone-rod dystrophy caused by mutation in RAX2; cone-rod dystrophy type 11; RAX2 cone-rod dystrophy; CORD11; cone-rod dystrophy 11
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISI8BH2: Cone-rod dystrophy 11
Disease Identifiers
MONDO ID
MONDO_0012483
MESH ID
C563671
UMLS CUI
C1835865
OMIM ID
610381
MedGen ID
322767

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAX2 OT1HD6CF Strong Autosomal dominant [1]
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References

1 The chicken RaxL gene plays a role in the initiation of photoreceptor differentiation. Development. 2002 Dec;129(23):5363-75. doi: 10.1242/dev.00114.