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: disease by anatomical system (MONDO:0021199)
Parent Node: disorder by anatomical region (MONDO:0024505)
..Starting node ..integumentary system disease ()
Child Nodes:
........Bartholin duct cyst ()
........Bartholin gland neoplasm ()
........benign mammary dysplasia ()
........breast fibrocystic disease ()
........cervical aortic arch ()
........corneal disease ()
........cutaneous mycosis ()
........demodicidosis ()
........dermis disease ()
........disease of pilosebaceous unit ()
........integumentary system benign neoplasm ()
........integumentary system cancer ()
........keratinization disease ()
........lip disease ()
........nail disease ()
........neoplasm of aortic body ()
........panniculitis ()
........pseudoxanthoma elasticum (inherited or acquired) ()
........skin appendage disease ()
........skin disease ()
........subcutaneous tissue disease ()
Sister Nodes:
..abdominal and pelvic region disorder ()
..head or neck disease/disorder ()
..hip region disease ()
..integumentary system disease ()
..limb disorder ()
..thoracic disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2051
Name:	integumentary system disease
Definition:	A disease involving the integumental system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of integumental system; disease or disorder of integumental system; disorder of integument; disorder of integumental system; disorder of integumental system; integumental system disease; integumental system disease or disorder; integumentary disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal