Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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 ..Breast Diseases (D001941)
Child Nodes:
........Amastia (C562989)
........Breast Cyst (D047688) 1
........Breast Neoplasms (D001943) 17
........Fibrocystic Breast Disease (D005348)
........Gynecomastia (D006177) 7
........Lactation Disorders (D007775) 5
........MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
........Mastitis (D008413) 1
........Polythelia, Familial (C562557)
........Pseudoangiomatous stromal hyperplasia (C535824)
........Sclerosing lymphocytic lobulitis (C537524)
........Symmastia (C538147)
........Ulnar-mammary syndrome (C536937)
........Zuska's Disease (C536730)
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:	1475
Name:	Breast Diseases
Definition:	Pathological processes of the BREAST.
Alternative IDs:
ParentIDs:	MESH:D012871
TreeNumbers:	C17.800.090
Synonyms:	Breast Disease \|Breast Disease, Endocrine \|Breast Diseases, Endocrine \|Disease, Breast \|Disease, Endocrine Breast \|Diseases, Breast \|Diseases, Endocrine Breast \|Endocrine Breast Disease \|Endocrine Breast Diseases
Slim Mappings:	Skin disease
Reference:	MedGen: D001941 MeSH: D001941 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants