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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: Dwarfism (D004392)
Parent Node: Growth Disorders (D006130)
Parent Node: Intellectual Disability (D008607)
Parent Node: Puberty, Delayed (D011628)
..Starting node ..Cantu Sanchez-Corona Fragoso syndrome (C535571)
Child Nodes:
Sister Nodes:
..Cantu Sanchez-Corona Fragoso syndrome (C535571)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1620
Name:	Cantu Sanchez-Corona Fragoso syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004392\|MESH:D006130\|MESH:D008607\|MESH:D011628
TreeNumbers:	C05.116.099.343/C535571 \|C10.597.606.643/C535571 \|C16.320.240/C535571 \|C19.297/C535571 \|C19.391.690/C535571 \|C23.550.393/C535571 \|C23.888.592.604.646/C535571 \|F03.550.600/C535571
Synonyms:	Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C535571 MeSH: C535571 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants