Details of Disease

General Information of Disease (ID: DISW6J8X)

Disease Name Cone-rod dystrophy 9
Synonyms cone-rod dystrophy 9; cone-rod dystrophy type 9; CORD9; ADAM9 cone-rod dystrophy; cone-rod dystrophy caused by mutation in ADAM9
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DIS3FXZL: ADAM9-related retinopathy
DISW6J8X: Cone-rod dystrophy 9
Disease Identifiers
MONDO ID
MONDO_0013002
UMLS CUI
C1423873
OMIM ID
612775
MedGen ID
244692

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADAM9 TTTYQNS Disputed Biomarker [1]
ADAM9 TTTYQNS Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAM9 OT70Z4II Definitive Autosomal recessive [2]
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References

1 Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.Br J Ophthalmol. 2014 Dec;98(12):1718-23. doi: 10.1136/bjophthalmol-2014-305231. Epub 2014 Aug 4.
2 Pelvic aneurysmal bone cyst in a dog. J Vet Med Sci. 1997 Nov;59(11):1027-30. doi: 10.1292/jvms.59.1027.