Disease Browser
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Parent Node: Macular Degeneration (D008268) | ..Starting node ..Macular Degeneration, Age-Related, 6 (C563674)
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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)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 6684 |
Name: | Macular Degeneration, Age-Related, 6 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D008268 |
TreeNumbers: | C11.768.585.439/C563674 |
Synonyms: | |
Slim Mappings: | Eye disease |
Reference: |
MedGen: C563674
MeSH: C563674
OMIM: 613757;
Genes: RAX2; | 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_032753.3(RAX2):c.344C>A (p.Ser115Ter) | 84839 | RAX2 | Pathogenic | 398124431 | RCV000082311; RCV000177392; | N | MedGen:C1835865,OMIM:610381; MedGen:C3151060,OMIM:613757 | 19 | 3770830 | 3770830 | NM_032753.3:c.344C>A | NP_116142.1:p.Ser115Ter | NC_000019.9:g.3770830G>T | - | C3151060 613757 Age-related macular degeneration 6; C1835865 610381 Cone-rod dystrophy 11 | | | NM_032753.3(RAX2):c.260G>A (p.Arg87Gln) | 84839 | RAX2 | Pathogenic | 121908280 | RCV000001299; | N | MedGen:C3151060,OMIM:613757 | 19 | 3770914 | 3770914 | NM_032753.3:c.260G>A | NP_116142.1:p.Arg87Gln | NC_000019.9:g.3770914C>T | OMIM Allelic Variant:610362.0001 | C3151060 613757 Age-related macular degeneration 6 | | |
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