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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

Disease Browser
Parent Node: Corneal Diseases (D003316)
Parent Node: Iris Diseases (D007499)
..Starting node ..Iridocorneal Endothelial Syndrome (D057129)
Child Nodes:
Sister Nodes:
..Aniridia (D015783) 10
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Exfoliation Syndrome (D017889)
..Heterochromia iridis (C538115)
..Iridocorneal Endothelial Syndrome (D057129)
..Iridocyclitis (D015863)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Iris Neoplasms (D015811)
..Iritis (D007500)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5900
Name:	Iridocorneal Endothelial Syndrome
Definition:	A grouping of three closely linked conditions: iris nevus (or Cogan-Reese) syndrome, Chandler Syndrome, and essential (progressive) iris atrophy. The most common features of this syndrome are the movement of endothelial cells off the cornea onto the iris leading to corneal swelling, distortion of the iris, and variable degrees of distortion of the pupil. The abnormal cell movement plugs fluid outflow channels of the eye causing GLAUCOMA.
Alternative IDs:
ParentIDs:	MESH:D003316\|MESH:D007499
TreeNumbers:	C11.204.497 \|C11.941.375.322
Synonyms:	Chandler's Syndrome \|Chandlers Syndrome \|Chandler Syndrome \|Cornea, Dystrophy Endothelial \|Corneas, Dystrophy Endothelial \|Dystrophy Endothelial Cornea \|Dystrophy Endothelial Corneas \|Endothelial Cornea, Dystrophy \|Endothelial Corneas, Dystrophy \|Endothelial Synd
Slim Mappings:	Eye disease
Reference:	MedGen: D057129 MeSH: D057129 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants