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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: Hyperpigmentation (D017495)
..Starting node ..Melanosis, Universal (C563594)
Child Nodes:
Sister Nodes:
..Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
..Dermatopathia pigmentosa reticularis (C535374)
..dowling-degos disease (C562924)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hyperpigmentation of Eyelids (C562400)
..Hyperpigmentation of Fuldauer and Kuijpers (C564164)
..Hyperpigmentation, Familial Progressive (C564163)
..HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 (OMIM:145250)
..Melanosis (D008548) 18
..Melanosis, Universal (C563594)
..Patterson pseudoleprechaunism syndrome (C536310)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6926
Name:	Melanosis, Universal
Definition:
Alternative IDs:
ParentIDs:	MESH:D017495
TreeNumbers:	C17.800.621.430/C563594
Synonyms:
Slim Mappings:	Skin disease
Reference:	MedGen: C563594 MeSH: C563594 OMIM: 155800; Genes:
Phenotypes
Disease Causing ClinVar Variants