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: Dermatitis (D003872)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Acrodermatitis (D000169)
Child Nodes:
........Acrodermatitis enteropathica (C538178)
Sister Nodes:
..Acrodermatitis (D000169) 1
..Anetoderma (D057088) 2
..Arthropathy, Erosive (C565273)
..Barber Say syndrome (C537908)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Book Syndrome (C562993)
..Carney Complex (D056733) 1
..COCOON SYNDROME (OMIM:613630)
..Comedones, Familial Dyskeratotic (C562838)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Dermal Ridges, Nelson Syndrome (C565110)
..Dermal Ridges, Patternless (C565109)
..Dermoodontodysplasia (C565103)
..Dyskeratosis Congenita (D019871) 3
..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Familial popliteal pterygium syndrome (C535891)
..Hairy palms and soles (C535620)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis (D007057) 66
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Incontinentia Pigmenti (D007184) 2
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Michelin tire baby syndrome (C537575)
..Microphthalmia, syndromic 7 (C537466)
..Multiple pterygium syndrome (C537377) 1
..Oculocerebrocutaneous syndrome (C538088)
..Poikiloderma with Neutropenia (C565820)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Port-Wine Stain (D019339) 4
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Pterygium Colli, Isolated (C566741)
..Ridges-off-the-end syndrome (C531754)
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..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)
..Tight skin contracture syndrome, lethal (C536920)
..Trichothiodystrophy Syndromes (D054463) 5
..Urban Schosser Spohn syndrome (C536476)
..Vascular Hyalinosis (C564750)
..Winter Shortland Temple syndrome (C536735)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	181
Name:	Acrodermatitis
Definition:	Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome.
Alternative IDs:
ParentIDs:	MESH:D003872\|MESH:D012868
TreeNumbers:	C16.131.831.066 \|C17.800.174.100 \|C17.800.804.066
Synonyms:	Acrodermatitides \|Acrodermatitis Papulosa Infantum \|Acrodermatitis Papulosa Infantums \|Acropapulo Vesicular Syndrome \|Acropapulo-Vesicular Syndrome \|Acropapulo-Vesicular Syndromes \|Childhood Papular Acrodermatitides \|Childhood Papular Acrodermatitis \|Erythemato
Slim Mappings:	Congenital abnormality\|Skin disease
Reference:	MedGen: D000169 MeSH: D000169 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants