Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Connective Tissue Diseases (D003240)
Parent Node: Skin Diseases (D012871)
..Starting node ..Scleroderma, Localized (D012594)
Child Nodes:
........Cataract, alopecia, sclerodactyly (C535336)
........Juvenile linear scleroderma (C543758)
........Juvenile-onset scleroderma (C543759)
........Lipodermatosclerosis (C537026)
........Sclerotylosis (C537526)
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:	10061
Name:	Scleroderma, Localized
Definition:	A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.
Alternative IDs:
ParentIDs:	MESH:D003240\|MESH:D012871
TreeNumbers:	C17.300.787 \|C17.800.767
Synonyms:	Circumscribed Scleroderma \|Dermatosclerosis \|Frontal Linear Scleroderma en Coup de Sabre \|Linear Scleroderma \|Localized Scleroderma \|Morphea \|Morpheas \|Scleroderma, Circumscribed \|Scleroderma, Linear \|Sclerodermas, Localized
Slim Mappings:	Connective tissue disease\|Skin disease
Reference:	MedGen: D012594 MeSH: D012594 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants