Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Genetic Diseases, Inborn (D030342)
Parent Node:
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Skin Diseases (D012871)
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Skin Diseases, Genetic (D012873)

       Child Nodes:
........expandActinic Prurigo (C566780)
........expandAlbinism (D000417) Child30
........expandAmyloidosis IX (C562643)
........expandAmyloidosis, Cutaneous Bullous (C562644)
........expandAmyloidosis, Primary Cutaneous (C562642)
........expandAnnular Erythema (C562461)
........expandArterial Tortuosity Syndrome (C565942)
........expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
........expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
........expandBuschke-Ollendorff syndrome (C537415)
........expandCollagenosis, Familial Reactive Perforating (C565687)
........expandCutis Laxa (D003483) Child17
........expandDarier Disease (D007644) Child7
........expandDermatitis, Atopic (D003876) Child9
........expanddowling-degos disease (C562924)
........expandDyschromatosis universalis hereditaria (C535730)
........expandDyschromatosis Universalis Hereditaria 1 (C567273)
........expandDyschromatosis Universalis Hereditaria 2 (C567194)
........expandDyskeratosis Congenita (D019871) Child3
........expandEctodermal Dysplasia (D004476) Child144
........expandEhlers-Danlos Syndrome (D004535) Child23
........expandEpidermolysis Bullosa (D004820) Child29
........expandErythrokeratodermia Variabilis (D056266) Child3
........expandErythrokeratodermia with ataxia (C535738)
........expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
........expandFingerprints, Absence of (C565010)
........expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
........expandGerodermia osteodysplastica (C537799)
........expandHereditary Autoinflammatory Diseases (D056660) Child10
........expandHistiocytic Dermatoarthritis (C564183)
........expandHyalinosis, Systemic (D057770)
........expandHyaluronan Metabolism, Defect in (C565742)
........expandIchthyosiform Erythroderma, Congenital (D016113) Child18
........expandIchthyosis Bullosa of Siemens (D053560)
........expandIchthyosis Vulgaris (D016112) Child1
........expandIchthyosis, X-Linked (D016114) Child2
........expandIncontinentia Pigmenti (D007184) Child2
........expandJuvenile Spring Eruption of Ears (C566781)
........expandKeratoderma, Palmoplantar (D007645) Child45
........expandKeratolytic winter erythema (C536155)
........expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
........expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
........expandLeukokeratosis, Hereditary Mucosal (D053529)
........expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
........expandLipoid Proteinosis of Urbach and Wiethe (D008065)
........expandMonilethrix (D056734) Child1
........expandMuir-Torre Syndrome (D055653)
........expandNetherton Syndrome (D056770)
........expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
........expandOculotrichodysplasia (C564934)
........expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
........expandOrofaciodigital syndrome 9 (C557818)
........expandOsseous Heteroplasia, Progressive (C562735)
........expandOsteopoikilosis, Isolated (C563484)
........expandParana Hard Skin Syndrome (C564905)
........expandPeeling Skin Syndrome (C564818)
........expandPemphigus, Benign Familial (D016506)
........expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
........expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
........expandPlasminogen Deficiency, Type I (C566897)
........expandPoikiloderma, Hereditary Sclerosing (C562824)
........expandPorokeratosis (D017499) Child7
........expandPorphyria, Erythropoietic (D017092)
........expandPorphyrias, Hepatic (D017094) Child14
........expandProlidase Deficiency (D056732)
........expandPseudoxanthoma Elasticum (D011561) Child2
........expandRothmund-Thomson Syndrome (D011038) Child5
........expandSjogren-Larsson Syndrome (D016111) Child1
........expandSkin Fragility-Woolly Hair Syndrome (C564359)
........expandStiff Skin Syndrome (C566112)
........expandStorm Syndrome (C566109)
........expandTrichothiodystrophy Syndromes (D054463) Child5
........expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
........expandVohwinkel Syndrome, Variant Form (C565826)
........expandXeroderma Pigmentosum (D014983) Child16



 Sister Nodes: 
..expandAcneiform Eruptions (D017486) Child5
..expandAngiolymphoid Hyperplasia with Eosinophilia (D000796)
..expandBorrone Di Rocco Crovato syndrome (C536577)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBreast Diseases (D001941) Child45
..expandC SYNDROME (OMIM:211750)
..expandCutaneous Fistula (D017577)
..expandDermatitis (D003872) Child57
..expandDermatoleukodystrophy (C538220)
..expandDermatomyositis (D003882) Child2
..expandEctodermal dysplasia/ skin fragility syndrome (C536183)
..expandElastosis perforans serpiginosa (C536202)
..expandElliott Ludman Teebi syndrome (C536204)
..expandErythema (D004890) Child19
..expandExanthema (D005076) Child1
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFACES syndrome (C536384)
..expandFacial Dermatoses (D005148) Child11
..expandFacial ectodermal dysplasia (C536385)
..expandFlynn Aird syndrome (C537066)
..expandFoot Diseases (D005534) Child13
..expandHair Diseases (D006201) Child174
..expandHand Dermatoses (D006229) Child1
..expandHernandez Fragoso syndrome (C536062)
..expandKeratoacanthoma (D007636) Child1
..expandKeratosis (D007642) Child149
..expandLeg Dermatoses (D007868)
..expandLipomatosis (D008068) Child11
..expandLupus Erythematosus, Cutaneous (D008178) Child3
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandMASS syndrome (C536030)
..expandMastocytosis (D008415) Child9
..expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..expandMental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..expandMorgellons Disease (D055535)
..expandNail Diseases (D009260) Child42
..expandNecrobiotic Disorders (D017441) Child3
..expandNecrolytic Migratory Erythema (D058568)
..expandNephrogenic Fibrosing Dermopathy (D054989)
..expandOSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
..expandPanniculitis (D015434) Child6
..expandPhotosensitivity Disorders (D010787) Child31
..expandPigmentation Disorders (D010859) Child147
..expandPrurigo (D011536)
..expandPruritus (D011537) Child6
..expandPseudoatrophoderma Colli (C562909)
..expandPyoderma (D011711) Child3
..expandRosacea (D012393) Child1
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandScalp Dermatoses (D012536) Child10
..expandScleredema Adultorum (D012592)
..expandScleroderma, Localized (D012594) Child5
..expandScleroderma, Systemic (D012595) Child7
..expandSebaceous Gland Diseases (D012625) Child12
..expandSkin Abnormalities (D012868) Child358
..expandSkin Diseases, Eczematous (D017443) Child35
..expandSkin Diseases, Genetic (D012873) Child462
..expandSkin Diseases, Infectious (D012874) Child103
..expandSkin Diseases, Metabolic (D012875) Child33
..expandSkin Diseases, Papulosquamous (D017444) Child26
..expandSkin Diseases, Vascular (D017445) Child33
..expandSkin Diseases, Vesiculobullous (D012872) Child54
..expandSkin Neoplasms (D012878) Child41
..expandSkin Ulcer (D012883) Child10
..expandSweat Gland Diseases (D013543) Child25
..expandUpton Young syndrome (C536473)
..expandXanthogranuloma, Juvenile (D014972)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10279
Name:Skin Diseases, Genetic
Definition:Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Alternative IDs:
ParentIDs:MESH:D012871|MESH:D030342
TreeNumbers:C16.320.850 |C17.800.827
Synonyms:Disease, Genetic Skin |Diseases, Genetic Skin |Genetic Skin Disease |Genetic Skin Diseases |Skin Disease, Genetic
Slim Mappings:Genetic disease (inborn)|Skin disease
Reference: MedGen: D012873
MeSH: D012873
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants