MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: Emery-Dreifuss muscular dystrophy (MONDO:0016830)
Parent Node: laminopathy (MONDO:0021106)
..Starting node ..autosomal dominant Emery-Dreifuss muscular dystrophy ()
Child Nodes:
........Emery-Dreifuss muscular dystrophy 2, autosomal dominant ()
........Emery-Dreifuss muscular dystrophy 4, autosomal dominant ()
........Emery-Dreifuss muscular dystrophy 5, autosomal dominant ()
........Emery-Dreifuss muscular dystrophy 7, autosomal dominant ()
Sister Nodes:
..adult-onset autosomal dominant demyelinating leukodystrophy ()
..atypical Werner syndrome ()
..autosomal dominant Emery-Dreifuss muscular dystrophy ()
..autosomal dominant limb-girdle muscular dystrophy type 1B ()
..Buschke-Ollendorff syndrome ()
..Charcot-Marie-Tooth disease type 2B1 ()
..Emery-Dreifuss muscular dystrophy 3, autosomal recessive ()
..familial partial lipodystrophy ()
..Greenberg dysplasia ()
..Hutchinson-Gilford progeria syndrome ()
..lethal restrictive dermopathy ()
..mandibuloacral dysplasia with type A lipodystrophy ()
..mandibuloacral dysplasia with type B lipodystrophy ()
..Pelger-Huet anomaly ()
..X-linked Emery-Dreifuss muscular dystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20336
Name:	autosomal dominant Emery-Dreifuss muscular dystrophy
Definition:	Autosomal dominant form of Emery-Dreifuss muscular dystrophy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	EDMD2; Emery-Dreifuss muscular dystrophy, autosomal dominant
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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