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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Muscle Weakness (D018908)
..Starting node ..Episodic Muscle Weakness, X-Linked (C564565)
Child Nodes:
Sister Nodes:
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Camera Marugo Cohen syndrome (C537964)
..Coenzyme Q10 Deficiency (C564403)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Episodic Muscle Weakness, X-Linked (C564565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3933

Name:

Episodic Muscle Weakness, X-Linked

Definition:

Alternative IDs:

OMIM:300211

ParentIDs:

MESH:D018908|MESH:D040181

TreeNumbers:

C05.651.515/C564565 |C10.597.613.593/C564565 |C16.320.322/C564565 |C23.550.695/C564565 |C23.888.592.608.593/C564565

Synonyms:

EMWX

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms

Reference:

MedGen: C564565
MeSH: C564565
OMIM: 300211;

Genes: EMWX;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001324	Muscle weakness	HP:0040280

Disease Causing ClinVar Variants