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: benign neoplasm (MONDO:0005165)
Parent Node: integumentary system disease (MONDO:0002051)
..Starting node ..integumentary system benign neoplasm ()
Child Nodes:
........adiposis dolorosa ()
........Bartholin gland benign neoplasm ()
........benign neoplasm of cornea ()
........benign neoplasm of lip ()
........benign neoplasm of skin ()
........familial multiple lipomatosis ()
........hemangioma of subcutaneous tissue ()
........intraductal breast papilloma ()
........multiple symmetric lipomatosis () L: 00494;
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	652
Name:	integumentary system benign neoplasm
Definition:	A benign neoplasm that involves the integumental system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	integumental system benign neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ABCB7;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal