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: integumentary system disease (MONDO:0002051)
Parent Node: parasitic infection (MONDO:0005135)
..Starting node ..demodicidosis ()
Child Nodes:
........Demodex folliculitis ()
........demodicidosis of sebaceous gland ()
Sister Nodes:
..amoebiasis due to Entamoeba histolytica ()
..amoebiasis due to free-living amoebae ()
..ankylostomiasis ()
..coccidioidomycosis ()
..cryptococcosis ()
..cutaneous larva migrans ()
..demodicidosis ()
..distomatosis ()
..helminthiasis ()
..microsporidiosis ()
..parasitemia ()
..parasitic disease, non-human animal ()
..parasitic eye infection ()
..parasitic Ichthyosporea infectious disease ()
..parasitic intestinal disease ()
..parasitic skin disease ()
..protozoa infectious disease ()
..Trichinellosis ()
..zoonoses ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17280
Name:	demodicidosis
Definition:	Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Demodex caused disease or disorder; Demodex disease or disorder; Demodex infectious disease; Demodicosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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