Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Infant, Newborn, Diseases (D007232)
Parent Node: Keratosis (D007642)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Ichthyosis (D007057)
Child Nodes:
........Acquired ichthyosis (C538175)
........Camptodactyly-ichthyosis syndrome (C537976)
........Cataract and congenital ichthyosis (C538281)
........Deal Barratt Dillon syndrome (C538206)
........Dykes Markes Harper syndrome (C535727)
........Erythrokeratoderma, Reticular (C563781)
........Grover's disease (C537306)
........HID Syndrome (C566528)
........Ichthyosiform Erythroderma, Congenital (D016113) 18
........Ichthyosis Bullosa of Siemens (D053560)
........Ichthyosis cheek eyebrow syndrome (C536084)
........Ichthyosis Exfoliativa (C563978)
........Ichthyosis follicularis atrichia photophobia syndrome (C536085)
........Ichthyosis hystrix gravior (C536087)
........Ichthyosis hystrix, Curth Macklin type (C536088)
........Ichthyosis prematurity syndrome (C536271)
........Ichthyosis tapered fingers midline groove up (C536272)
........Ichthyosis Vulgaris (D016112) 1
........Ichthyosis with hypotrichosis, autosomal recessive (C536273) 1
........ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
........Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
........Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
........Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) 1
........Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
........Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
........Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive (C565749)
........Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
........Ichthyosis, X-Linked (D016114) 2
........Ichthyosis, X-Linked, Complicated (C567443)
........Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
........Jagell Holmgren Hofer syndrome (C537364)
........Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
........Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
........Koone Rizzo Elias syndrome (C537023)
........Neu Laxova syndrome (C536405)
........Osteosclerosis with Ichthyosis and Fractures (C563483)
........Rud Syndrome (C535878)
........Ruzicka Goerz Anton syndrome (C537192)
........Sammartino De Crecchio Syndrome (C537229)
........Sjogren-Larsson Syndrome (D016111) 1
........Stormorken Syndrome (C566108)
........Trichodysplasia-Xeroderma (C566032)
........Zunich neuroectodermal syndrome (C536729)
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:	5668
Name:	Ichthyosis
Definition:	Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Alternative IDs:
ParentIDs:	MESH:D007232\|MESH:D007642\|MESH:D012868
TreeNumbers:	C16.131.831.512 \|C16.614.492 \|C17.800.428.333 \|C17.800.804.512
Synonyms:	Ichthyoses \|Xeroderma \|Xerodermas
Slim Mappings:	Congenital abnormality\|Infant-newborn disease\|Skin disease
Reference:	MedGen: D007057 MeSH: D007057 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants