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Ectodermal Dysplasia (D004476)
Parent Node:
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Skin Diseases (D012871)
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Ectodermal dysplasia/ skin fragility syndrome (C536183)

       Child Nodes:



 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:3620
Name:Ectodermal dysplasia/ skin fragility syndrome
Definition:
Alternative IDs:OMIM:604536
ParentIDs:MESH:D004476|MESH:D012871
TreeNumbers:C16.131.077.350/C536183 |C16.131.831.350/C536183 |C16.320.850.250/C536183 |C17.800.804.350/C536183 |C17.800.827.250/C536183 |C17.800/C536183
Synonyms:Ectodermal Dysplasia/Skin Fragility Syndrome |Mcgrath syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: C536183
MeSH: C536183
OMIM: 604536;

Genes: PKP1;
Phenotypes
1 HP:0000968Ectodermal dysplasia
2 HP:0001030Fragile skin
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000299.3(PKP1):c.910C>T (p.Gln304Ter)5317PKP1Pathogenic121918354RCV000008041; NMedGen:C1858302,OMIM:604536,ORPHA:1586681201286763201286763NM_000299.3:c.910C>TNP_000290.2:p.Gln304TerNC_000001.10:g.201286763C>TOMIM Allelic Variant:601975.0001C1858302 604536 Ectodermal dysplasia skin fragility syndrome