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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   cystoid macular dystrophy
  

Disease ID 857
Disease cystoid macular dystrophy
Definition
Fluid accumulation in the outer layer of the MACULA LUTEA at the center of the RETINA in a petaloid pattern where cystic spaces are formed and may lead to macular depressions or holes.
Synonym
central retinal edema, cystoid
cme - cystoid macular edema
cme - cystoid macular oedema
cmo - cystoid macular edema
cmo - cystoid macular oedema
cymd
cystoid edema macular
cystoid macular edema
cystoid macular edema (disorder)
cystoid macular oedema
dcmd
edema, cystoid macular
macular dystrophy, dominant cystoid
macular edema
macular edema [disease/finding]
macular edema, cystoid
mddc
Orphanet
OMIM
DOID
UMLS
C0024440
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:75)
C0035328  |  retinal vein occlusion  |  118
C0154841  |  central retinal vein occlusion  |  32
C0035309  |  retinopathy  |  30
C0011884  |  diabetic retinopathy  |  28
C0456909  |  vision loss  |  23
C0154830  |  proliferative diabetic retinopathy  |  16
C0035333  |  retinitis  |  15
C0035334  |  retinitis pigmentosa  |  15
C0086543  |  cataract  |  14
C0011847  |  diabetes  |  13
C0004606  |  nonproliferative diabetic retinopathy  |  10
C0042164  |  uveitis  |  9
C0035328  |  retinal vein occlusions  |  5
C0024441  |  macular hole  |  4
C0011860  |  type 2 diabetes  |  3
C0035305  |  retinal detachment  |  3
C0022116  |  ischemia  |  3
C0042165  |  anterior uveitis  |  3
C0011849  |  diabetes mellitus  |  3
C0042384  |  vasculitis  |  2
C0003864  |  arthritis  |  2
C0730285  |  diabetic macular edema  |  2
C0015397  |  ocular disease  |  2
C0037315  |  sleep disordered breathing  |  2
C0024440  |  cystoid macular edema  |  2
C0154832  |  coats' disease  |  2
C0553662  |  juvenile idiopathic arthritis  |  2
C0035326  |  retinal vascular occlusion  |  2
C0029134  |  optic neuritis  |  2
C0017601  |  glaucoma  |  2
C0043119  |  werner syndrome  |  1
C0042167  |  posterior uveitis  |  1
C0030343  |  panuveitis  |  1
C0018916  |  hemangiomas  |  1
C0027813  |  neuritis  |  1
C0024441  |  macular holes  |  1
C1849394  |  enhanced s-cone syndrome  |  1
C0029124  |  optic atrophy  |  1
C0004114  |  astrocytoma  |  1
C0042373  |  vascular disorder  |  1
C0002871  |  anemia  |  1
C0034951  |  refractive error  |  1
C0034152  |  henoch-schonlein purpura  |  1
C0035309  |  retinal diseases  |  1
C0238301  |  nasopharyngeal carcinoma  |  1
C0023473  |  chronic myeloid leukaemia  |  1
C0152026  |  retinal vasculitis  |  1
C0011860  |  diabetes mellitus type 2  |  1
C0024437  |  macular degeneration  |  1
C0023418  |  leukaemia  |  1
C0026769  |  multiple sclerosis  |  1
C0015397  |  eye diseases  |  1
C0423361  |  posterior vitreous detachment  |  1
C0152439  |  retinoschisis  |  1
C0029124  |  optic nerve atrophy  |  1
C0042166  |  intermediate uveitis  |  1
C0023470  |  myeloid leukaemia  |  1
C0011854  |  type 1 diabetes  |  1
C0008525  |  choroideremia  |  1
C0220633  |  uveal melanoma  |  1
C0025202  |  melanoma  |  1
C0547030  |  visual disturbance  |  1
C1853959  |  birdshot chorioretinopathy  |  1
C0006017  |  pertussis  |  1
C0006123  |  branch retinal artery occlusion  |  1
C0024437  |  age-related macular degeneration  |  1
C0015397  |  eye disease  |  1
C0035302  |  retinal artery occlusion  |  1
C0162293  |  papillitis  |  1
C0034150  |  purpura  |  1
C0018916  |  hemangioma  |  1
C0271097  |  usher syndrome  |  1
C0456909  |  blindness  |  1
C0035309  |  retinal disease  |  1
C0030353  |  papilledema  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1541  |  CYMD  |  OMIM
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
3569  |  IL6  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:46)
3267  |  AGFG1  |  1.613  |  DISEASES
262  |  AMD1  |  1.281  |  DISEASES
578  |  BAK1  |  1.777  |  DISEASES
7439  |  BEST1  |  3.251  |  DISEASES
23418  |  CRB1  |  3.547  |  DISEASES
399697  |  CTXN2  |  3.74  |  DISEASES
285440  |  CYP4V2  |  2.712  |  DISEASES
1641  |  DCX  |  1.051  |  DISEASES
1805  |  DPT  |  1.023  |  DISEASES
10938  |  EHD1  |  2.56  |  DISEASES
2048  |  EPHB2  |  2.58  |  DISEASES
2058  |  EPRS  |  1.84  |  DISEASES
10457  |  GPNMB  |  1.85  |  DISEASES
3440  |  IFNA2  |  1.344  |  DISEASES
3614  |  IMPDH1  |  2.143  |  DISEASES
3712  |  IVD  |  2.238  |  DISEASES
3778  |  KCNMA1  |  3.284  |  DISEASES
8564  |  KMO  |  2.188  |  DISEASES
9211  |  LGI1  |  1.218  |  DISEASES
4094  |  MAF  |  1.122  |  DISEASES
79104  |  MEG8  |  1.51  |  DISEASES
83552  |  MFRP  |  3.001  |  DISEASES
4512  |  MT-CO1  |  1.204  |  DISEASES
10003  |  NAALAD2  |  3.064  |  DISEASES
56953  |  NT5M  |  2.728  |  DISEASES
4942  |  OAT  |  2.072  |  DISEASES
5158  |  PDE6B  |  2.839  |  DISEASES
5148  |  PDE6G  |  3.062  |  DISEASES
5824  |  PEX19  |  2.074  |  DISEASES
5830  |  PEX5  |  1.533  |  DISEASES
5251  |  PHEX  |  1.539  |  DISEASES
63895  |  PIEZO2  |  2.094  |  DISEASES
5795  |  PTPRJ  |  2.094  |  DISEASES
83695  |  RHNO1  |  1.791  |  DISEASES
8732  |  RNGTT  |  2.031  |  DISEASES
6238  |  RRBP1  |  1.916  |  DISEASES
23212  |  RRS1  |  1.53  |  DISEASES
6247  |  RS1  |  1.953  |  DISEASES
26503  |  SLC17A5  |  1.516  |  DISEASES
6540  |  SLC6A13  |  1.573  |  DISEASES
6752  |  SSTR2  |  1.217  |  DISEASES
7124  |  TNF  |  2.177  |  DISEASES
7133  |  TNFRSF1B  |  2.019  |  DISEASES
7178  |  TPT1  |  1.513  |  DISEASES
7391  |  USF1  |  1.141  |  DISEASES
7422  |  VEGFA  |  3.868  |  DISEASES
Locus(Waiting for update.)
Disease ID 857
Disease cystoid macular dystrophy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:61)
HP:0012636  |  Retinal vein occlusion  |  123
HP:0000572  |  Visual loss  |  34
HP:0000488  |  Noninflammatory retina disease  |  32
HP:0000505  |  Poor vision  |  18
HP:0000518  |  Cataract  |  16
HP:0000510  |  Retinitis pigmentosa  |  15
HP:0000554  |  Uveitis  |  8
HP:0100014  |  Macular pucker  |  8
HP:0000573  |  Retinal hemorrhage  |  6
HP:0011508  |  Macular hole  |  4
HP:0000819  |  Diabetes mellitus  |  4
HP:0000969  |  Dropsy  |  4
HP:0007663  |  Central visual loss  |  3
HP:0000541  |  Detached retina  |  3
HP:0007902  |  Vitreous hemorrhage  |  3
HP:0011505  |  Cystoid macular edema  |  3
HP:0007868  |  ARMD  |  3
HP:0100653  |  Optic neuritis  |  2
HP:0000501  |  Glaucoma  |  2
HP:0000648  |  Optic-nerve degeneration  |  2
HP:0001369  |  Arthritis  |  2
HP:0030498  |  Macular thickening  |  2
HP:0005681  |  Juvenile idiopathic arthritis  |  2
HP:0012122  |  Anterior uveitis  |  2
HP:0030005  |  Capillary leak  |  2
HP:0002633  |  Vasculitis  |  2
HP:0001028  |  Strawberry mark  |  1
HP:0000618  |  Blindness  |  1
HP:0002861  |  Melanoma  |  1
HP:0007872  |  Choroidal hemangioma  |  1
HP:0000622  |  Blurred vision  |  1
HP:0001259  |  Coma  |  1
HP:0001139  |  Choroideremia  |  1
HP:0001147  |  Retinal exudate  |  1
HP:0011510  |  Drusen  |  1
HP:0001146  |  Retinal pigmentary degeneration  |  1
HP:0030652  |  Vitreous haze  |  1
HP:0007716  |  Intraocular melanoma  |  1
HP:0003077  |  Hyperlipidemia  |  1
HP:0002664  |  Neoplasia  |  1
HP:0011531  |  Hyalitis  |  1
HP:0009592  |  Astrocytoma  |  1
HP:0012123  |  Posterior uveitis  |  1
HP:0012152  |  Retinoschisis involving the fovea  |  1
HP:0012121  |  Panuveitis  |  1
HP:0005306  |  Capillary hemangioma  |  1
HP:0000529  |  Slowly progressive visual loss  |  1
HP:0100533  |  Ocular inflammation  |  1
HP:0009711  |  Retinal capillary hemangioma  |  1
HP:0040049  |  Macular edema  |  1
HP:0012124  |  Intermediate uveitis  |  1
HP:0001085  |  Papilledema  |  1
HP:0001903  |  Anemia  |  1
HP:0030502  |  Retinoschisis  |  1
HP:0001489  |  Posterior vitreous detachment  |  1
HP:0000159  |  Lip abnormality  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0000608  |  Macular degeneration  |  1
HP:0001083  |  Dislocated lenses  |  1
HP:0000979  |  Purpura  |  1
Disease ID 857
Disease cystoid macular dystrophy
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0035328  |  retinal vein occlusion  |  122
C0456909  |  vision loss  |  23
C0456909  |  blindness  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 857
Disease cystoid macular dystrophy
Case(Waiting for update.)