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: Histiocytosis, Non-Langerhans-Cell (D015616)
Parent Node: Skin Diseases (D012871)
..Starting node ..Xanthogranuloma, Juvenile (D014972)
Child Nodes:
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:	11806
Name:	Xanthogranuloma, Juvenile
Definition:	Benign disorder of infants and children caused by proliferation of HISTIOCYTES, macrophages found in tissues. These histiocytes, usually lipid-laden non-Langerhans cells, form multiple yellow-red nodules most often in the skin, the eye, and sometimes in the viscera. Patients appear to have normal lipid metabolism and are classified as a normolipemic non-Langerhans cell histiocytosis.
Alternative IDs:
ParentIDs:	MESH:D012871\|MESH:D015616
TreeNumbers:	C15.604.250.410.900 \|C17.800.973
Synonyms:	Juvenile Xanthogranuloma \|Juvenile Xanthogranulomas \|Juvenile Xanthoma \|Juvenile Xanthomas \|Nevoxanthoendothelioma \|Nevoxanthoendotheliomas \|Xanthogranulomas, Juvenile \|Xanthoma, Juvenile \|Xanthomas, Juvenile
Slim Mappings:	Lymphatic disease\|Skin disease
Reference:	MedGen: D014972 MeSH: D014972 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants