MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Abnormalities, Multiple (D000015)
Parent Node:
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Skin Abnormalities (D012868)
Parent Node:
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Skin Diseases, Genetic (D012873)
..Starting node
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Ectodermal Dysplasia (D004476)

       Child Nodes:
........expandAdams Oliver syndrome (C538225)
........expandAlves Castelo dos Santos syndrome (C536593)
........expandAnal sphincter dysplasia (C538254)
........expandAplasia cutis congenita intestinal lymphangiectasia (C537788)
........expandAplasia cutis congenita of limbs recessive (C536840)
........expandAplasia Cutis Congenita with Epibulbar Dermoids (C563969)
........expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
........expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
........expandAREDYLD Syndrome (C537427)
........expandArthrogryposis and ectodermal dysplasia (C537441)
........expandBasan syndrome (C537659)
........expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
........expandBrunoni syndrome (C537408)
........expandCardiofaciocutaneous syndrome (C535579)
........expandCerebellar ataxia ectodermal dysplasia (C535350)
........expandCleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
........expandCongenital ectodermal dysplasia with hearing loss (C535757)
........expandCONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
........expandContractures ectodermal dysplasia cleft lip palate (C535465)
........expandCranioectodermal Dysplasia (C562966) Child1
........expandDeafness with Anhidrotic Ectodermal Dysplasia (C565119)
........expandDermatoosteolysis Kirghizian type (C535373)
........expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
........expandECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
........expandECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
........expandECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
........expandEctodermal Dysplasia 3, Anhidrotic (D053359)
........expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
........expandECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
........expandECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
........expandEctodermal dysplasia adrenal cyst (C538015)
........expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
........expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
........expandEctodermal dysplasia mental retardation syndactyly (C538018)
........expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
........expandEctodermal Dysplasia with Natal Teeth, Turnpenny Type (C563347)
........expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
........expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
........expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
........expandEctodermal Dysplasia, Hidrotic, Autosomal Recessive (C566553)
........expandEctodermal dysplasia, hidrotic, Christianson-Fourie type (C536180)
........expandEctodermal Dysplasia, Hypohidrotic, Autosomal Recessive (D053360)
........expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
........expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
........expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
........expandEctodermal Dysplasia, Pure Hair-Nail Type (C566592)
........expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
........expandEctodermal Dysplasia, Trichoodontoonychial Type (C565068)
........expandEctodermal Dysplasia-Skin Fragility Syndrome (C536183)
........expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
........expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
........expandECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
........expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate (C565065)
........expandEctrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 (C565062)
........expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 (C565799)
........expandEctrodactyly-cleft lip-palate syndrome (C536189)
........expandEllis-Van Creveld Syndrome (D004613) Child6
........expandEpidermolysis bullosa with pyloric atresia (C535377)
........expandEuhidrotic ectodermal dysplasia (C535763)
........expandFacial ectodermal dysplasia (C536385)
........expandFocal Dermal Hypoplasia (D005489) Child1
........expandFocal facial dermal dysplasia (C537068)
........expandFreire-Maia odontotrichomelic syndrome (C535637)
........expandHalal Setton Wang syndrome (C535621)
........expandHay Wells syndrome recessive type (C535846)
........expandHay-Wells syndrome (C535847)
........expandHyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
........expandJohanson Blizzard syndrome (C535880)
........expandJones Hersh Yusk syndrome (C535885)
........expandLadda Zonana Ramer syndrome (C538135)
........expandLelis Syndrome (C564261)
........expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
........expandMadokoro Ohdo Sonoda syndrome (C537838)
........expandNaegeli syndrome (C538331)
........expandNEMO mutation with immunodeficiency (C538399)
........expandNeurocutaneous Syndromes (D020752) Child42  LSDB C:1
........expandOdontomicronychial dysplasia (C537741)
........expandOdontoonychodermal dysplasia (C537742)
........expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
........expandOrofacial Cleft 7 (C563464)
........expandPachyonychia Congenita (D053549) Child5
........expandPinheiro Freire-Maia Miranda syndrome (C537402)
........expandPropping Zerres syndrome (C538052)
........expandRapp-Hodgkin syndrome (C535289)
........expandRobinson Miller Bensimon syndrome (C535864)
........expandRosselli-Gulienetti Syndrome (C563117)
........expandSener syndrome (C537579)
........expandSeres-Santamaria Arimany Muniz syndrome (C537585)
........expandTaurodontia absent teeth sparse hair (C536945)
........expandTetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
........expandTrichodental syndrome (C536551)
........expandTrichoodontoonychial Dysplasia (C564760)
........expandTrichoscyphodysplasia (C536557)
........expandTRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
........expandTrueb Burg Bottani syndrome (C536565)
........expandYunis Varon syndrome (C536719)
........expandZlotogora-Ogur syndrome (C536726)



 Sister 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)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..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
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3967
Name:Ectodermal Dysplasia
Definition:A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Alternative IDs:DO:DOID:14693|OMIM:107600|OMIM:129500
ParentIDs:MESH:D000015|MESH:D012868|MESH:D012873
TreeNumbers:C16.131.077.350 |C16.131.831.350 |C16.320.850.250 |C17.800.804.350 |C17.800.827.250
Synonyms:ACC |Anhidrotic Ectodermal Dysplasia |Anhidrotic, Ectodermal Dysplasia |Anhidrotic Ectodermal Dysplasias |Anhidrotics, Ectodermal Dysplasia |Anhydrotic Ectodermal Dysplasia |Anhydrotic Ectodermal Dysplasias |Aplasia Cutis Congenita |Aplasia Cutis Congenita, Nons
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: D004476
MeSH: D004476
OMIM: 107600;
MSeqDR LSDB:
MSeqDR has 1 matches in descendants: 00392;  
Genes: BMS1; GJB6; SLC16A1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0004471Aplasia cutis congenita over the scalp vertex
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014753.4(BMS1):c.2225C>T (p.Pro742Leu)9790BMS1Uncertain significance-1RCV001682624; NHuman Phenotype Ontology:HP:0001057,MONDO:MONDO:0007145,MedGen:C0282160,OMIM:107600, Orphanet:1114104329405143294051CT43294051-
NM_014753.4(BMS1):c.2789G>A (p.Arg930His)9790BMS1Pathogenicrs587777706RCV000144047; NHuman Phenotype Ontology:HP:0001057,MONDO:MONDO:0007145,MedGen:C0282160,OMIM:107600, Orphanet:1114104331597543315975GANC_000010.10:g.43315975G>AClinGen:CA170730,UniProtKB:Q14692#VAR_072539,OMIM:611448.0001
MSeqDR Portal