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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: Diseases (C)
Parent Node: Myofibrillar Myopathy (C580316)
..Starting node ..MYOPATHY, SPHEROID BODY (OMIM:182920)
Child Nodes:
Sister Nodes:
..MYOPATHY, SPHEROID BODY (OMIM:182920)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7697

Name:

MYOPATHY, SPHEROID BODY

Definition:

Alternative IDs:

ParentIDs:

MESH:C580316

TreeNumbers:

C05.651.575/C580316/182920 |C10.668.491.550/C580316/182920

Synonyms:

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 182920
MeSH: 182920
OMIM: 182920;

Genes: MYOT;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003674	Onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0003438	Absent Achilles reflex
5	HP:0002136	Broad-based gait
6	HP:0002460	Distal muscle weakness
7	HP:0002015	Dysphagia
8	HP:0003236	Elevated circulating creatine kinase concentration
9	HP:0003198	Myopathy
10	HP:0001611	Nasal speech
11	HP:0003722	Neck flexor weakness
12	HP:0007126	Proximal amyotrophy
13	HP:0003701	Proximal muscle weakness
14	HP:0003677	Slowly progressive
15	HP:0003828	Variable expressivity
16	HP:0002515	Waddling gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe)	9499	MYOT	Pathogenic	121908461	RCV000006196;	N	MedGen:C1866785,OMIM:182920,ORPHA:268129	5	137206456	137206456	NM_006790.2:c.116C>T	NP_006781.1:p.Ser39Phe	NC_000005.9:g.137206456C>T	OMIM Allelic Variant:604103.0006	C1866785 182920 Spheroid body myopathy