Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEye Diseases, Hereditary (D015785)
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandMacular Degeneration (D008268)
..Starting node
..expandMacular Dystrophy, X-Linked (C564110)

       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, 2 (C562479)
..expandMacular Degeneration, Age-Related, 3 (C563838)
..expandMacular Degeneration, Age-Related, 4 (C565196)
..expandMacular Degeneration, Age-Related, 6 (C563674)
..expandMacular Degeneration, Age-Related, 7 (C565718)
..expandMacular Degeneration, Age-Related, 9 (C566958)
..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 (C580470)
..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, CTD
Term ID:6694
Name:Macular Dystrophy, X-Linked
Definition:
Alternative IDs:
ParentIDs:MESH:D008268|MESH:D015785|MESH:D040181
TreeNumbers:C11.270/C564110 |C11.768.585.439/C564110 |C16.320.290/C564110 |C16.320.322/C564110
Synonyms:
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C564110
MeSH: C564110
OMIM: 309100;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0007754Macular dystrophy
Disease Causing ClinVar Variants