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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
dermoid cyst +     
ectodermal dysplasia +     
46,XX Gonadal Dysgenesis Epibulbar Dermoid 
ACCES Syndrome  
Adams-Oliver syndrome +   
ADULT syndrome  
Alves Castelo dos Santos Syndrome 
Anal Sphincter Dysplasia  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Intestinal Lymphangiectasia 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia  
BASAN syndrome  
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
cardiofaciocutaneous syndrome +   
cartilage-hair hypoplasia  
Cerebellar Ataxia and Ectodermal Dysplasia 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8  
cleft lip-palate-ectodermal dysplasia syndrome  
Clouston syndrome  
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
cranioectodermal dysplasia +   
Deafness with Anhidrotic Ectodermal Dysplasia 
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
dermoid cyst of ovary +   
dermoid cyst of skin 
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 8 
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
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 
EEC syndrome +   
Ellis-Van Creveld syndrome +   
Euhidrotic Ectodermal Dysplasia 
Familial Frontonasal Dermoid Cysts 
focal dermal hypoplasia  
Focal Facial Dermal Dysplasia +   
Freire-Maia Odontotrichomelic Syndrome 
Halal Setton Wang Syndrome 
Hay Wells Syndrome Recessive Type 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
hypohidrotic ectodermal dysplasia +   
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Ladda Zonana Ramer Syndrome 
Lelis Syndrome 
linear skin defects with multiple congenital anomalies 2  
Marshall syndrome +   
Naegeli-Franceschetti-Jadassohn syndrome  
NEMO Mutation with Immunodeficiency 
Neurocutaneous Syndromes +   
nonsyndromic aplasia cutis congenita  
oculoectodermal syndrome  
An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. (DO)
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
orofacial cleft 7 +   
pachyonychia congenita +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Papillon-Lefevre disease +   
photosensitive trichothiodystrophy 1  
Pinheiro Freire-Maia Miranda Syndrome 
pure hair and nail ectodermal dysplasia +   
Rapp-Hodgkin syndrome  
ring dermoid of cornea  
Robinson Miller Bensimon Syndrome 
Rosselli-Gulienetti Syndrome 
scalp-ear-nipple syndrome  
Schinzel Giedion syndrome  
Schopf-Schulz-Passarge syndrome  
Sener Syndrome 
Seres-Santamaria Arimany Muniz Syndrome 
spinal cord dermoid cyst 
Taurodontia, Absent Teeth, Sparse Hair 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 

Synonyms
Exact Synonyms: Aplasia Cutis Congenita with Epibulbar Dermoids ;   OES ;   Toriello-Lacassie-Droste syndrome ;   aplasia cutis congenita-epibulbar dermoids syndrome ;   oculoectodermal syndrome, somatic
Primary IDs: MESH:C563969
Alternate IDs: OMIM:600268
Xrefs: GARD:10366 ;   ORDO:3339
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/25808193 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26970110 "DO" "DO"

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