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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Skin Diseases (D012871)
..Starting node ..Photosensitivity Disorders (D010787)
Child Nodes:
........Actinic Prurigo (C566780)
........Cutaneous photosensitivity and colitis, lethal (C536224)
........Dermatitis, Photoallergic (D017454)
........Dermatitis, Phototoxic (D017484)
........Hair defect with photosensitivity and mental retardation (C537628)
........Hydroa Vacciniforme (D006837) 1
........PHOTOPAROXYSMAL RESPONSE 1 (OMIM:132100)
........PHOTOPAROXYSMAL RESPONSE 2 (OMIM:609572)
........Photoparoxysmal Response 3 (C563695)
........Poikiloderma of Kindler (C536321)
........Sunburn (D013471)
........TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
........UV-Sensitive Syndrome (C563466)
........Xeroderma Pigmentosum (D014983) 16
Sister Nodes:
..Acneiform Eruptions (D017486) 5
..Angiolymphoid Hyperplasia with Eosinophilia (D000796)
..Borrone Di Rocco Crovato syndrome (C536577)
..Boudhina Yedes Khiari syndrome (C537939)
..Breast Diseases (D001941) 45
..C SYNDROME (OMIM:211750)
..Cutaneous Fistula (D017577)
..Dermatitis (D003872) 57
..Dermatoleukodystrophy (C538220)
..Dermatomyositis (D003882) 2
..Ectodermal dysplasia/ skin fragility syndrome (C536183)
..Elastosis perforans serpiginosa (C536202)
..Elliott Ludman Teebi syndrome (C536204)
..Erythema (D004890) 19
..Exanthema (D005076) 1
..Eyebrows duplication of, with stretchable skin and syndactyly (C536383)
..FACES syndrome (C536384)
..Facial Dermatoses (D005148) 11
..Facial ectodermal dysplasia (C536385)
..Flynn Aird syndrome (C537066)
..Foot Diseases (D005534) 13
..Hair Diseases (D006201) 174
..Hand Dermatoses (D006229) 1
..Hernandez Fragoso syndrome (C536062)
..Keratoacanthoma (D007636) 1
..Keratosis (D007642) 149
..Leg Dermatoses (D007868)
..Lipomatosis (D008068) 11
..Lupus Erythematosus, Cutaneous (D008178) 3
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..MASS syndrome (C536030)
..Mastocytosis (D008415) 9
..Median cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..Morgellons Disease (D055535)
..Nail Diseases (D009260) 42
..Necrobiotic Disorders (D017441) 3
..Necrolytic Migratory Erythema (D058568)
..Nephrogenic Fibrosing Dermopathy (D054989)
..OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
..Panniculitis (D015434) 6
..Photosensitivity Disorders (D010787) 31
..Pigmentation Disorders (D010859) 147
..Prurigo (D011536)
..Pruritus (D011537) 6
..Pseudoatrophoderma Colli (C562909)
..Pyoderma (D011711) 3
..Rosacea (D012393) 1
..Roy Maroteaux Kremp syndrome (C535875)
..Scalp Dermatoses (D012536) 10
..Scleredema Adultorum (D012592)
..Scleroderma, Localized (D012594) 5
..Scleroderma, Systemic (D012595) 7
..Sebaceous Gland Diseases (D012625) 12
..Skin Abnormalities (D012868) 358
..Skin Diseases, Eczematous (D017443) 35
..Skin Diseases, Genetic (D012873) 462
..Skin Diseases, Infectious (D012874) 103
..Skin Diseases, Metabolic (D012875) 33
..Skin Diseases, Papulosquamous (D017444) 26
..Skin Diseases, Vascular (D017445) 33
..Skin Diseases, Vesiculobullous (D012872) 54
..Skin Neoplasms (D012878) 41
..Skin Ulcer (D012883) 10
..Sweat Gland Diseases (D013543) 25
..Upton Young syndrome (C536473)
..Xanthogranuloma, Juvenile (D014972)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8916
Name:	Photosensitivity Disorders
Definition:	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Alternative IDs:
ParentIDs:	MESH:D012871
TreeNumbers:	C17.800.600
Synonyms:	Actinic Dermatitides \|Actinic Dermatitides, Chronic \|Actinic Dermatitis \|Actinic Dermatitis, Chronic \|Actinic Reticuloid Syndrome \|Actinic Reticuloid Syndromes \|Chronic Actinic Dermatitides \|Chronic Actinic Dermatitis \|Dermatitides, Actinic \|Dermatitides, Chronic
Slim Mappings:	Skin disease
Reference:	MedGen: D010787 MeSH: D010787 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants