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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: Eyelid Diseases (D005141)
Parent Node: Hyperpigmentation (D017495)
..Starting node ..Hyperpigmentation of Eyelids (C562400)
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:

5464

Name:

Hyperpigmentation of Eyelids

Definition:

Alternative IDs:

ParentIDs:

MESH:D005141|MESH:D017495

TreeNumbers:

C11.338/C562400 |C17.800.621.430/C562400

Synonyms:

Slim Mappings:

Eye disease|Skin disease

Reference:

MedGen: C562400
MeSH: C562400
OMIM: 145100;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007406	Hyperpigmentation of eyelids

Disease Causing ClinVar Variants