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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Pigmentation Disorders (D010859)
..Starting node ..Hyperpigmentation (D017495)
Child 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)
Sister Nodes:
..Acroleukopathy, Symmetric (C566322)
..Anonychia with Flexural Pigmentation (C566278)
..Argyria (D001129)
..BADS Syndrome (C562663)
..Basaran Yilmaz syndrome (C537660)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cafe-au-Lait Spots (D019080) 4
..Dyschromatosis symmetrica hereditaria 1 (C535729)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Elejalde Disease (C536203)
..FLOTCH syndrome (C537065)
..Graying of Hair, Precocious (C564209)
..Griscelli syndrome type 1 (C537301)
..Griscelli syndrome type 3 (C537303)
..Grouped Pigmentation of the Macula (C565530)
..Heterochromia iridis (C538115)
..Hyperpigmentation (D017495) 30
..Hypopigmentation (D017496) 49
..Incontinentia Pigmenti (D007184) 2
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Macules hereditary congenital hypopigmented and hyperpigmented (C537836)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Peeling skin syndrome, acral type (C536316)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Pigmented purpuric eruption (C537186)
..Propping Zerres syndrome (C538052)
..Red skin pigment anomaly of New Guinea (C535515)
..Russell-Silver Syndrome, X-Linked (C562446)
..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..Spastic paraplegia 23 (C536859)
..Tang Hsi Ryu syndrome (C536897)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thumb deformity, alopecia, pigmentation anomaly (C536904)
..Urticaria Pigmentosa (D014582)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..White forelock with malformations (C536700)
..Whyte Murphy syndrome (C536054)
..Xeroderma Pigmentosum (D014983) 16
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5461
Name:	Hyperpigmentation
Definition:	Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Alternative IDs:
ParentIDs:	MESH:D010859
TreeNumbers:	C17.800.621.430
Synonyms:	Hypermelanoses \|Hypermelanosis
Slim Mappings:	Skin disease
Reference:	MedGen: D017495 MeSH: D017495 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants