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: muscular dystrophy (MONDO:0020121)
..Starting node ..Hauptmann-Thannhauser muscular dystrophy ()
Child Nodes:
Sister Nodes:
..congenital muscular dystrophy ()
..distal myopathy ()
..Fukuda-Miyanomae-Nakata syndrome ()
..Hauptmann-Thannhauser muscular dystrophy ()
..muscular dystrophy, Barnes type ()
..muscular dystrophy, cardiac type ()
..muscular dystrophy, Hemizygous lethal type ()
..muscular dystrophy, Mabry type ()
..muscular dystrophy, progressive Pectorodorsal ()
..progressive 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:	21570
Name:	Hauptmann-Thannhauser muscular dystrophy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign scapuloperoneal muscular dystrophy with cardiomyopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal