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: Melanosis (D008548)
..Starting node ..Lentigo (D007911)
Child Nodes:
........Arterial Dissection with Lentiginosis (C563937)
........Lentiginosis Profusa (C573023)
........Lentiginosis, Centrofacial Neurodysraphic (C563630)
........LEOPARD Syndrome (D044542) 2
........Peutz-Jeghers Syndrome (D010580)
Sister Nodes:
..Acanthosis Nigricans (D000052) 7
..Lentigo (D007911) 7
..Neurocutaneous melanosis (C537387)
..Schwartz Cohen-Addad Lambert syndrome (C535835)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6306
Name:	Lentigo
Definition:	Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).
Alternative IDs:
ParentIDs:	MESH:D008548
TreeNumbers:	C17.800.621.430.530.550
Synonyms:	Lentigines \|Lentiginoses \|Lentiginosis \|Lentigos
Slim Mappings:	Skin disease
Reference:	MedGen: D007911 MeSH: D007911 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants