Disease browser and phenotype 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

Disease Browser
Parent Node: Nevi and Melanomas (D018326)
..Starting node ..Nevus (D009506)
Child Nodes:
........Becker Nevus Syndrome (C565735)
........Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
........Connective Tissue Nevus (C562737)
........Dysplastic Nevus Syndrome (D004416)
........Epidermal Nevus (C580062)
........Nevus, Halo (D055882)
........Nevus, Intradermal (D018330)
........Nevus, Pigmented (D009508) 11
........Nevus, Sebaceous of Jadassohn (D054000) 1
Sister Nodes:
..Melanoma (D008545) 16
..Nevus (D009506) 21
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8037
Name:	Nevus
Definition:	A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin.
Alternative IDs:
ParentIDs:	MESH:D018326
TreeNumbers:	C04.557.665.560
Synonyms:	Mole, Skin \|Moles, Skin \|Nevi \|Skin Mole \|Skin Moles
Slim Mappings:	Cancer
Reference:	MedGen: D009506 MeSH: D009506 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants