MCID: RRG076
MIFTS: 6

Rare Genetic Eye Disease

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rare Genetic Eye Disease

MalaCards integrated aliases for Rare Genetic Eye Disease:

Name: Rare Genetic Eye Disease 58
Rare Genetic Ophthalmologic Disease 58

Classifications:



External Ids:

Orphanet 58 ORPHA101435

Summaries for Rare Genetic Eye Disease

MalaCards based summary : Rare Genetic Eye Disease, is also known as rare genetic ophthalmologic disease. Affiliated tissues include eye.

Related Diseases for Rare Genetic Eye Disease

Symptoms & Phenotypes for Rare Genetic Eye Disease

Drugs & Therapeutics for Rare Genetic Eye Disease

Search Clinical Trials , NIH Clinical Center for Rare Genetic Eye Disease

Genetic Tests for Rare Genetic Eye Disease

Anatomical Context for Rare Genetic Eye Disease

MalaCards organs/tissues related to Rare Genetic Eye Disease:

40
Eye

Publications for Rare Genetic Eye Disease

Articles related to Rare Genetic Eye Disease:

# Title Authors PMID Year
1
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. 61
31323021 2019
2
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. 61
17306875 2007

Variations for Rare Genetic Eye Disease

Expression for Rare Genetic Eye Disease

Search GEO for disease gene expression data for Rare Genetic Eye Disease.

Pathways for Rare Genetic Eye Disease

GO Terms for Rare Genetic Eye Disease

Sources for Rare Genetic Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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