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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: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Nevus (D009506)
..Starting node ..Dysplastic Nevus Syndrome (D004416)
Child Nodes:
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3544
Name:	Dysplastic Nevus Syndrome
Definition:	Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)
Alternative IDs:
ParentIDs:	MESH:D009386\|MESH:D009506
TreeNumbers:	C04.557.665.560.260 \|C04.700.305 \|C16.320.700.305
Synonyms:	B K Mole Syndrome \|B-K Mole Syndrome \|Dysplastic Nevi \|Dysplastic Nevus \|Familial Atypical Multiple Mole Melanoma \|Familial Atypical Multiple Mole-Melanoma \|Nevi, Dysplastic \|Nevus, Dysplastic \|Nevus Syndrome, Dysplastic \|Syndrome, B-K Mole \|Syndrome, Dysplastic N
Slim Mappings:	Cancer\|Genetic disease (inborn)
Reference:	MedGen: D004416 MeSH: D004416 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants