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:
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Cleft Lip (D002971)
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Cleft Palate (D002972)
Parent Node:
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Ectodermal Dysplasia (D004476)
Parent Node:
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Hand Deformities, Congenital (D006228)
..Starting node
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)

       Child Nodes:



 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAcheiropodia (C536014)
..expandAcrofacial dysostosis Rodriguez type (C538183)
..expandAcrofacial dysostosis, Palagonia type (C538185)
..expandAcrootoocular Syndrome (C564866)
..expandAcrorenal Syndrome (C563159)
..expandAdactylia, Unilateral (C562417)
..expandAnonychia-Ectrodactyly (C566277)
..expandAnonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..expandAphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandBanki Syndrome (C566228)
..expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
..expandBRACHYDACTYLY, TYPE E2 (OMIM:613382)
..expandCamptodactyly 1 (C567780)
..expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
..expandCamptodactyly syndrome Guadalajara type 1 (C537970)
..expandCamptodactyly syndrome Guadalajara type 2 (C537971)
..expandCamptodactyly taurinuria (C537972)
..expandCamptodactyly vertebral fusion (C537973)
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCamptodactyly-ichthyosis syndrome (C537976)
..expandCamptosynpolydactyly, Complex (C564383)
..expandCarnevale Hernandez Castillo syndrome (C535585)
..expandCatel Manzke syndrome (C535347)
..expandCATSHL syndrome (C537975)
..expandChitayat Meunier Hodgkinson syndrome (C535926)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCoffin-Siris syndrome (C536436)
..expandCranioacrofacial Syndrome (C565147)
..expandCraniosynostosis, Adelaide Type (C563471)
..expandCrisponi syndrome (C536214)
..expandDaneman Davy Mancer syndrome (C535986)
..expandDeafness, congenital onychodystrophy, recessive form (C538204)
..expandDigitorenocerebral Syndrome (C563052)
..expandDigitotalar Dysmorphism (C565097)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandDystelephalangy (C538000)
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..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 Palate Syndrome (C565064)
..expandEiken Skeletal Dysplasia (C564010)
..expandFacial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..expandFairbank disease (C536393)
..expandFemur bifid with monodactylous ectrodactyly (C537917)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandFrontootopalatodigital Osteodysplasia (C567578)
..expandFuhrmann syndrome (C538189)
..expandGoodman camptodactyly (C537287)
..expandGordon syndrome (C537288)
..expandGrowth mental deficiency syndrome of Myhre (C537620)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHairy palms and soles (C535620)
..expandHand foot uterus syndrome (C535627)
..expandHeart-hand syndrome, Slovenian type (C535852)
..expandHecht Scott syndrome (C535856)
..expandHoloprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..expandHydrolethalus syndrome (C536079)
..expandJacobs syndrome (C537560)
..expandJohnson Munson syndrome (C535881)
..expandKeutel syndrome (C536167)
..expandLaurin-Sandrow syndrome (C535689)
..expandLeri pleonosteosis (C537118)
..expandMacrodactyly of the hand (C537720)
..expandMAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..expandMetacarpal 4 5 Fusion (C564100)
..expandMetaphyseal acroscyphodysplasia (C537350)
..expandMichels Caskey syndrome (C537576)
..expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
..expandMononen Karnes Senac syndrome (C535914)
..expandMorillo-Cucci Passarge syndrome (C536983)
..expandMuller Barth Menger syndrome (C537370)
..expandNeurofaciodigitorenal syndrome (C537388)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandOculootoradial syndrome (C535544)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOslam syndrome (C537138)
..expandOto-Palato-digital syndrome type 1 (C536065)
..expandOto-palato-digital syndrome, type 2 (C538089)
..expandOtopalatodigital Spectrum Disorder (C567577)
..expandPatent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..expandPfeiffer Tietze Welte syndrome (C537891)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandProgeroid Facial Appearance with Hand Anomalies (C566563)
..expandPseudotrisomy 13 syndrome (C535829)
..expandPterygium colli mental retardation digital anomalies (C535831)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRhizomelic dysplasia Patterson Lowry type (C537609)
..expandRichieri Costa Guion-Almeida syndrome (C535676)
..expandRichieri Costa Pereira syndrome (C535677)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSaal Bulas syndrome (C537193)
..expandSanderson Fraser syndrome (C537232)
..expandSay Field Coldwell syndrome (C536619)
..expandSchinzel-Giedion syndrome (C536632)
..expandSecond Metatarsal-Metacarpal Syndrome (C564824)
..expandSplit hand split foot nystagmus (C537319)
..expandSplit-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..expandSpondylocamptodactyly (C535779)
..expandStoll Alembik Dott syndrome (C537497)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSymphalangism, C. S. Lewis Type (C566100)
..expandSymphalangism, Distal (C566099) Child1
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandSynpolydactyly 2 (C564278)
..expandTabatznik syndrome (C536784)
..expandTeebi Kaurah syndrome (C536948)
..expandTeebi syndrome (C536951)
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendons, Extensor, of Fingers, Anomalous Insertion of (C566068)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTollner Horst Manzke syndrome (C536964)
..expandTrichorhinophalangeal Syndrome, Type III (C566033)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandTriphalangeal Thumb (C573898)
..expandTriphalangeal thumb non opposable (C536562)
..expandTriphalangeal Thumb with Double Phalanges (C566028)
..expandTukel syndrome (C536925)
..expandVan Maldergem Wetzburger Verloes syndrome (C536530)
..expandVentricular extrasystoles perodactyly Robin sequence (C536537)
..expandVohwinkel syndrome (C536457)
..expandWalbaum Titran Durieux Crepin syndrome (C536566)
..expandWeaver syndrome (C536687)
..expandWeaver-Like Syndrome (C562443)
..expandWeyers ulnar ray/oligodactyly syndrome (C536696)
..expandZimmerman Laband syndrome (C536725)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3640
Name:Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Definition:
Alternative IDs:OMIM:129900
ParentIDs:MESH:D002971|MESH:D002972|MESH:D004476|MESH:D006228
TreeNumbers:C05.390.408/C565062 |C05.500.460.185/C565062 |C05.660.207.540.460.185/C565062 |C05.660.585.988.425/C565062 |C07.320.440.185/C565062 |C07.465.409.225/C565062 |C07.465.525.164/C565062 |C07.465.525.185/C565062 |C07.650.500.460.185/C565062 |C07.650.525.164/C565062 |C0
Synonyms:EEC |EEC1 |EEC Syndrome 1
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease
Reference: MedGen: C565062
MeSH: C565062
OMIM: 129900;

Genes: EEC1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001739Abnormal nasopharynx morphology
3 HP:0000198Absence of Stensen duct
4 HP:0002023Anal atresia
5 HP:0000015Bladder diverticulum
6 HP:0000498Blepharitis
7 HP:0000581Blepharophimosis
8 HP:0000635Blue irides
9 HP:0000455Broad nasal tip
10 HP:0000670Carious teeth
11 HP:0000863Central diabetes insipidus
12 HP:0000453Choanal atresia
13 HP:0000175Cleft palate
14 HP:0000204Cleft upper lip
15 HP:0000405Conductive hearing impairment
16 HP:0000028Cryptorchidism
17 HP:0000620Dacryocystitis
18 HP:0000824Decreased response to growth hormone stimulation test
19 HP:0000437Depressed nasal tip
20 HP:0000081Duplicated collecting system
21 HP:0000968Ectodermal dysplasia
22 HP:0002286Fair hair
23 HP:0007513Generalized hypopigmentation
24 HP:0001161Hand polydactyly
25 HP:0001425Heterogeneous
26 HP:0000126Hydronephrosis
27 HP:0000072Hydroureter
28 HP:0000962Hyperkeratosis
29 HP:0000316Hypertelorism
30 HP:0000044Hypogonadotropic hypogonadism
31 HP:0000327Hypoplasia of the maxilla
32 HP:0002557Hypoplastic nipples
33 HP:0000023Inguinal hernia
34 HP:0001249Intellectual disability
35 HP:0000272Malar flattening
36 HP:0000252Microcephaly
37 HP:0000691Microdontia
38 HP:0000054Micropenis
39 HP:0008551Microtia
40 HP:0001803Nail pits
41 HP:0000677Oligodontia
42 HP:0000613Photophobia
43 HP:0000143Rectovaginal fistula
44 HP:0002205Recurrent respiratory infections
45 HP:0000104Renal agenesis
46 HP:0000110Renal dysplasia
47 HP:0001592Selective tooth agenesis
48 HP:0002507Semilobar holoprosencephaly
49 HP:0000535Sparse and thin eyebrow
50 HP:0002215Sparse axillary hair
51 HP:0000653Sparse eyelashes
52 HP:0002225Sparse pubic hair
53 HP:0002209Sparse scalp hair
54 HP:0001839Split foot
55 HP:0001171Split hand
56 HP:0000506Telecanthus
57 HP:0000963Thin skin
58 HP:0001770Toe syndactyly
59 HP:0000145Transverse vaginal septum
60 HP:0000070Ureterocele
61 HP:0000076Vesicoureteral reflux
62 HP:0000217Xerostomia
Disease Causing ClinVar Variants