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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: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
Parent Node: Myopathy, Central Core (D020512)
..Starting node ..Chudley-Rozdilsky syndrome (C535458)
Child Nodes:
Sister Nodes:
..Chudley-Rozdilsky syndrome (C535458)
..Minicore Myopathy, Moderate, with Hand Involvement (C566147)
..Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber (C567162)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2382
Name:	Chudley-Rozdilsky syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D007006\|MESH:D008607\|MESH:D020512
TreeNumbers:	C05.651.575.300/C535458 \|C10.597.606.643/C535458 \|C10.668.491.550.300/C535458 \|C19.391.482/C535458 \|C23.888.592.604.646/C535458 \|F03.550.600/C535458
Synonyms:	Chudley Rozdilsky syndrome \|Chudley syndrome
Slim Mappings:	Endocrine system disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535458 MeSH: C535458 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants