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Term:
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy (DOID:9004693)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
acheiropody  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acrootoocular Syndrome 
acrorenal syndrome +  
Adams-Oliver syndrome +   
ADULT syndrome  
Alves Castelo dos Santos Syndrome 
Anal Sphincter Dysplasia 
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aplasia Cutis Congenita Intestinal Lymphangiectasia 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
Banki Syndrome 
Basan Syndrome  
bestrophinopathy  
brachydactyly type E1  
brachydactyly type E2  
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
cardiofaciocutaneous syndrome +   
Carnevale Hernandez Castillo Syndrome 
Catel Manzke Syndrome  
Cerebellar Ataxia Ectodermal Dysplasia 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Chitayat Meunier Hodgkinson Syndrome 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Clouston syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
congenital hypotrichosis with juvenile macular dystrophy  
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
Daneman Davy Mancer Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Congenital Onychodystrophy, Recessive Form 
degeneration of macula and posterior pole +   
Dermatoosteolysis Kirghizian Type 
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Distal Symphalangism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant  
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE  
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE  
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 7, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 
Ectodermal Dysplasia, Pure Hair-Nail Type 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Euhidrotic Ectodermal Dysplasia 
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Femur Bifid with Monodactylous Ectrodactyly 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
focal dermal hypoplasia +   
Freire-Maia Odontotrichomelic Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Geographic Atrophy  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goodman Camptodactyly 
Gordon Syndrome  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
Halal Setton Wang Syndrome 
hand-foot-genital syndrome  
Hay Wells Syndrome Recessive Type 
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrolethalus syndrome +   
hypohidrotic ectodermal dysplasia +   
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kuhnt-Junius degeneration +   
Ladda Zonana Ramer syndrome 
Laurin-Sandrow Syndrome  
Lelis Syndrome 
Leri Pleonosteosis 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Macrodactyly of the Hand 
Macular Degeneration, Early-Onset  
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT  
Macular Dystrophy, Concentric Annular  
Macular Dystrophy, Retinal, 3 
Macular Dystrophy, X-Linked +   
macular retinal edema +   
Mammary-Digital-Nail Syndrome 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Naegeli Syndrome  
NEMO Mutation with Immunodeficiency 
Neurocutaneous Syndromes +   
Neurofaciodigitorenal Syndrome 
occult macular dystrophy  
Oculootoradial Syndrome  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 7 +   
Oslam syndrome 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
pachyonychia congenita +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
patterned macular dystrophy +   
Pfeiffer Tietze Welte Syndrome 
Photosensitive Trichothiodystrophy 1  
Pinheiro Freire-Maia Miranda Syndrome 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Progeroid Facial Appearance with Hand Anomalies 
Pseudotrisomy 13 Syndrome 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Rapp-Hodgkin syndrome  
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Robinson Miller Bensimon Syndrome 
Rosselli-Gulienetti Syndrome 
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
Second Metatarsal-Metacarpal Syndrome 
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Sorsby's fundus dystrophy  
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Stargardt disease +   
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synpolydactyly 2  
Tabatznik Syndrome 
tarsal-carpal coalition syndrome  
Taurodontia Absent Teeth Sparse Hair 
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tollner Horst Manzke Syndrome 
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Trueb Burg Bottani Syndrome 
Tukel Syndrome 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
vitelliform macular dystrophy +   
Vohwinkel Syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
Yunis-Varon syndrome  
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME ;   EEM Syndrome ;   EEMS ;   Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy
Primary IDs: MESH:C536190
Alternate IDs: OMIM:225280 ;   RDO:0001670

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.