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: rheumatologic disorder (MONDO:0005554)
Parent Node: systemic autoimmune disease (MONDO:0015939)
Parent Node: systemic disease with skin involvement (MONDO:0017368)
..Starting node ..scleroderma (disease) ()
Child Nodes:
........localized scleroderma ()
........neonatal scleroderma ()
........systemic sclerosis ()
Sister Nodes:
..autoinflammatory syndrome with skin involvement ()
..dermatomyositis ()
..drug-induced lupus erythematosus ()
..Reynolds syndrome ()
..scleroderma (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19340
Name:	scleroderma (disease)
Definition:	Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	dermatosclerosis; Scleroderma; scleroderma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal