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: limb disorder (MONDO:0044967)
Parent Node: skin disease (MONDO:0005093)
Parent Node: vasculitis (MONDO:0018882)
..Starting node ..livedoid vasculopathy ()
Child Nodes:
Sister Nodes:
..aortitis ()
..arteritis ()
..central nervous system vasculitis ()
..choroiditis ()
..cutaneous vasculitis ()
..hypersensitivity vasculitis ()
..livedoid vasculopathy ()
..lymphangitis ()
..phlebitis ()
..predominantly large-vessel vasculitis ()
..predominantly medium-vessel vasculitis ()
..predominantly small-vessel vasculitis ()
..retinal vasculitis ()
..secondary vasculitis ()
..Shwartzman phenomenon ()
..unclassified vasculitis ()
..vasculitis, lymphocytic, nodular ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	25514
Name:	livedoid vasculopathy
Definition:	Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring ( atrophie blanche ) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.
Alternative IDs:
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Synonyms:	idiopathic atrophic blanche; livedo reticularis with summer ulcerations; livedo reticularis with winter ulcerations; livedo vasculitis; livedoid vasculitis; livedoid vasculopathy; segmental hyalinizing vasculopathy; white atrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal