MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Macular Degeneration (D008268)
..Starting node
..expand
Macular Degeneration, Age-Related, 6 (C563674)

       Child Nodes:



 Sister Nodes: 
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandFundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..expandGeographic Atrophy (D057092)
..expandJuvenile macular degeneration and hypotrichosis (C537698)
..expandMacular Degeneration, Age-Related, 1 (C566411)
..expandMacular Degeneration, Age-Related, 10 (C566935)
..expandMacular Degeneration, Age-Related, 11 (C567450)
..expandMACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
..expandMACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
..expandMACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
..expandMACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
..expandMacular Degeneration, Age-Related, 2 (C562479)
..expandMacular Degeneration, Age-Related, 3 (C563838)
..expandMacular Degeneration, Age-Related, 4 (C565196)
..expandMACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
..expandMacular Degeneration, Age-Related, 6 (C563674)
..expandMacular Degeneration, Age-Related, 7 (C565718)
..expandMACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
..expandMacular Degeneration, Age-Related, 9 (C566958)
..expandMACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMacular dystrophy, concentric annular (C537833)
..expandMACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMacular Edema (D008269)
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandOCCULT MACULAR DYSTROPHY (OMIM:613587)
..expandStargardt disease 1 (C535804)
..expandStargardt disease 3 (C535805)
..expandStargardt disease 4 (C535521)
..expandStargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..expandVitelliform Macular Dystrophy (D057826) Child2
..expandWet Macular Degeneration (D057135)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7324
Name:Macular Degeneration, Age-Related, 6
Definition:
Alternative IDs:OMIM:613757
ParentIDs:MESH:D008268
TreeNumbers:C11.768.585.439/C563674
Synonyms:ARMD6
Slim Mappings:Eye disease
Reference: MedGen: C563674
MeSH: C563674
OMIM: 613757;
MSeqDR LSDB:  
Genes: RAX2;
Phenotypes
1 HP:0000608Macular degeneration
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_032753.3(RAX2):c.260G>A (p.Arg87Gln)84839RAX2Pathogenic121908280RCV000001299; NMedGen:C3151060,OMIM:6137571937709143770914OMIM Allelic Variant:610362.0001,UniProtKB (protein):Q96IS3#VAR_031907C3151060 613757 Age-related macular degeneration 6;
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