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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Macular Degeneration (D008268)
..Starting node ..Macular Degeneration, Age-Related, 7 (C565718)
Child Nodes:
Sister Nodes:
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Fundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..Geographic Atrophy (D057092)
..Juvenile macular degeneration and hypotrichosis (C537698)
..Macular Degeneration, Age-Related, 1 (C566411)
..Macular Degeneration, Age-Related, 10 (C566935)
..Macular Degeneration, Age-Related, 11 (C567450)
..Macular Degeneration, Age-Related, 2 (C562479)
..Macular Degeneration, Age-Related, 3 (C563838)
..Macular Degeneration, Age-Related, 4 (C565196)
..Macular Degeneration, Age-Related, 6 (C563674)
..Macular Degeneration, Age-Related, 7 (C565718)
..Macular Degeneration, Age-Related, 9 (C566958)
..Macular dystrophy, concentric annular (C537833)
..MACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..Macular Dystrophy, X-Linked (C564110)
..Macular Edema (D008269)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..OCCULT MACULAR DYSTROPHY (OMIM:613587)
..Stargardt disease 1 (C535804)
..Stargardt disease 3 (C535805)
..Stargardt disease 4 (C535521)
..Stargardt Macular Degeneration (C580470)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Vitelliform Macular Dystrophy (D057826) 2
..Wet Macular Degeneration (D057135)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6685

Name:

Macular Degeneration, Age-Related, 7

Definition:

Alternative IDs:

OMIM:610149

ParentIDs:

MESH:D008268

TreeNumbers:

C11.768.585.439/C565718

Synonyms:

MACULAR DEGENERATION, AGE-RELATED, 7;ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY |MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO, INCLUDED |TO, INCLUDED

Slim Mappings:

Eye disease

Reference:

MedGen: C565718
MeSH: C565718
OMIM: 610149;

Genes: HTRA1;

Phenotypes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_002775.4(HTRA1):c.-625G>A	5654	HTRA1	risk factor	11200638	RCV000007914; RCV000007915;	N	MedGen:C1857813,OMIM:610149; MedGen:C1857814	10	124220544	124220544	NM_002775.4:c.-625G>A		NC_000010.10:g.124220544G>A	OMIM Allelic Variant:602194.0001	C1857813 610149 Age-related macular degeneration 7; C1857814 Susceptibility to neovascular type of age-related macular degeneration