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: autosomal recessive cerebellar ataxia due to a DNA repair defect (MONDO:0020045)
Parent Node: genetic photodermatosis (MONDO:0015951)
Parent Node: malformation syndrome with skin/mucosae involvement (MONDO:0015331)
Parent Node: polymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
Parent Node: progeroid syndrome (MONDO:0015333)
Parent Node: rare photodermatosis (MONDO:0019304)
..Starting node ..xeroderma pigmentosum ()
Child Nodes:
........xeroderma pigmentosum group A ()
........xeroderma pigmentosum group B ()
........xeroderma pigmentosum group C ()
........xeroderma pigmentosum group D ()
........xeroderma pigmentosum group E ()
........xeroderma pigmentosum group F ()
........xeroderma pigmentosum group G ()
........xeroderma pigmentosum variant type ()
........xeroderma pigmentosum, autosomal dominant, mild ()
Sister Nodes:
..actinic prurigo ()
..Bloom syndrome ()
..chronic actinic dermatitis ()
..Hartnup disease ()
..hereditary acrokeratotic poikiloderma of Kindler-Weary ()
..hydroa vacciniforme ()
..inherited porphyria ()
..Rothmund-Thomson syndrome ()
..solar urticaria ()
..UV-sensitive syndrome ()
..xeroderma pigmentosum ()
..xeroderma pigmentosum-Cockayne syndrome complex ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19600
Name:	xeroderma pigmentosum
Definition:	Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	angioma pigmentosum atrophicum; atrophoderma pigmentosum; Kaposi dermatosis; Kaposi disease; melanosis lenticularis progressiva; pigmented epitheliomatosis; xeroderma of Kaposi; xeroderma pigmentosa; xeroderma pigmentosum syndrome; XP
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal