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: lice infestation (MONDO:0003472)
Parent Node: skin infection (MONDO:0021201)
..Starting node ..Pthirus pubis infestation ()
Child Nodes:
Sister Nodes:
..cercarial dermatitis ()
..cutaneous diphtheria ()
..deep seated dermatophytosis ()
..Demodex folliculitis ()
..dermatophytosis ()
..erysipelas ()
..gonococcal keratitis ()
..herpes simplex dermatitis ()
..herpes zoster dermatitis ()
..impetigo ()
..infection by Trypanosoma gambiense ()
..Pthirus pubis infestation ()
..scabies ()
..tinea favosa ()
..tinea infection ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1794
Name:	Pthirus pubis infestation
Definition:	Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	crabs; infections, Pthirus pubis; infestation by Phthirus pubis; pediculosis pubis; Pediculus pubis; phthiriasis; phthiriasis pubis; Phthirus pubis; Phthirus pubis [pubic louse]; Phthirus/pediculus pubis - pubic lice - crabs; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); Pthirus pub
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal