MCID: ISL145
MIFTS: 4

Isolated Macular Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Isolated Macular Dystrophy

MalaCards integrated aliases for Isolated Macular Dystrophy:

Name: Isolated Macular Dystrophy 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA519302

Summaries for Isolated Macular Dystrophy

MalaCards based summary : Isolated Macular Dystrophy Affiliated tissues include eye.

Related Diseases for Isolated Macular Dystrophy

Symptoms & Phenotypes for Isolated Macular Dystrophy

Drugs & Therapeutics for Isolated Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Isolated Macular Dystrophy

Genetic Tests for Isolated Macular Dystrophy

Anatomical Context for Isolated Macular Dystrophy

MalaCards organs/tissues related to Isolated Macular Dystrophy:

40
Eye

Publications for Isolated Macular Dystrophy

Articles related to Isolated Macular Dystrophy:

# Title Authors PMID Year
1
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES. 61
31318848 2019
2
CRX-linked macular dystrophy with intrafamilial variable expressivity. 61
30067412 2018

Variations for Isolated Macular Dystrophy

Expression for Isolated Macular Dystrophy

Search GEO for disease gene expression data for Isolated Macular Dystrophy.

Pathways for Isolated Macular Dystrophy

GO Terms for Isolated Macular Dystrophy

Sources for Isolated Macular Dystrophy

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
Content
Loading form....