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: scabies (MONDO:0004525)
..Starting node ..Norwegian scabies ()
Child Nodes:
Sister Nodes:
..Norwegian scabies ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1951
Name:	Norwegian scabies
Definition:	A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	crusted scabies; seven year itch
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: KANK1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal