MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandMacular Degeneration (D008268)
..Starting node
..expandMacular Degeneration, Age-Related, 9 (C566958)

       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:7327
Name:Macular Degeneration, Age-Related, 9
Definition:
Alternative IDs:OMIM:611378
ParentIDs:MESH:D008268
TreeNumbers:C11.768.585.439/C566958
Synonyms:ARMD9
Slim Mappings:Eye disease
Reference: MedGen: C566958
MeSH: C566958
OMIM: 611378;
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000064.3(C3):c.2951-9_2951-4CTG[1]718C3Uncertain significance-1RCV000767911; RCV000767911; RCV000767911; NMedGen:C1969651,OMIM:611378; MedGen:C2752037,OMIM:612925, Orphanet:ORPHA93575; MedGen:C3151071,OMIM:613779, Orphanet:ORPHA2801331966946526694654-
NM_000064.3(C3):c.463A>C (p.Lys155Gln)718C3Uncertain significance147859257RCV000765476; RCV000765476; RCV000765476; RCV000077796; RCV000202831; NMedGen:C1969651,OMIM:611378; MedGen:C2752037,OMIM:612925, Orphanet:ORPHA93575; MedGen:C3151071,OMIM:613779, Orphanet:ORPHA280133; na; MedGen:CN1693741967181466718146OMIM Allelic Variant:120700.0010,UniProtKB (protein):P01024#VAR_070941CN169374 not specified;
MSeqDR Portal