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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: Anophthalmos (D000853)
Parent Node: Cryptorchidism (D003456)
Parent Node: Esophageal Atresia (D004933)
..Starting node ..Arroyo Garcia Cimadevilla syndrome (C537439)
Child Nodes:
Sister Nodes:
..Arroyo Garcia Cimadevilla syndrome (C537439)
..Microphthalmia, Syndromic 3 (C565948)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	876
Name:	Arroyo Garcia Cimadevilla syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000853\|MESH:D003456\|MESH:D004933
TreeNumbers:	C06.198.330/C537439 \|C06.405.117.260/C537439 \|C11.250.080/C537439 \|C12.294.829.258/C537439 \|C12.706.258/C537439 \|C16.131.314.330/C537439 \|C16.131.384.159/C537439 \|C16.131.939.258/C537439 \|C19.391.829.258/C537439
Synonyms:	Bilateral anophthalmia, esophageal atresia, and right cryptorchidism
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Endocrine system disease\|Eye disease\|Urogenital disease (male)
Reference:	MedGen: C537439 MeSH: C537439 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants