Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
orofacial cleft +     
syndactyly +     
acrocephalosyndactylia +   
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  
Aphalangia Syndactyly Microcephaly 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
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 
Aurocephalosyndactyly 
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Basan Syndrome  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Bonneau Syndrome 
brachydactyly-syndactyly syndrome  
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
cardiofaciocutaneous syndrome +   
Cenani-Lenz syndactyly syndrome  
Cerebellar Ataxia Ectodermal Dysplasia 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
cleft lip +   
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate +   
Clouston syndrome  
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Crossed Polysyndactyly 
Deafness with Anhidrotic Ectodermal Dysplasia 
Dermatoosteolysis Kirghizian Type 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
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 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, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
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  
EEC syndrome +   
Ellis-Van Creveld syndrome +   
Euhidrotic Ectodermal Dysplasia 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi Syndrome  
focal dermal hypoplasia +   
Fraser syndrome +   
Freire-Maia Odontotrichomelic Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Gollop Coates Syndrome 
Grange Syndrome  
Green Sandford Davison 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  
Kleiner Holmes Syndrome 
Kozlowski-Krajewska Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Landy Donnai Syndrome 
Lelis Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Martinez Monasterio Pinheiro Syndrome 
Naegeli Syndrome  
Naguib-Richieri-Costa Syndrome 
NEMO Mutation with Immunodeficiency 
Neurocutaneous Syndromes +   
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculodentoosseous Dysplasia Recessive 
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
orofacial cleft 1  
orofacial cleft 10  
orofacial cleft 11  
orofacial cleft 12 
orofacial cleft 13 
orofacial cleft 14 
orofacial cleft 15  
orofacial cleft 2 
orofacial cleft 3 
orofacial cleft 4 
orofacial cleft 5  
orofacial cleft 7 +   
An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)
orofacial cleft 8  
orofacial cleft 9 
Orstavik Lindemann Solberg Syndrome  
pachyonychia congenita +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Papillon-Lefevre disease +   
Pavone Fiumara Rizzo Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Pfeiffer Rockelein Syndrome 
Photosensitive Trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Poland syndrome 
popliteal pterygium syndrome +   
Postaxial Polydactyly, Type A4 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Rapp-Hodgkin syndrome  
Robinson Miller Bensimon Syndrome 
Rosselli-Gulienetti Syndrome 
sclerosteosis +   
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction  
Syndactyly, Type 3  
Syndactyly, Type I  
Syndactyly, Type IV  
Syndactyly, Type V  
Syndactyly-Polydactyly-Earlobe Syndrome 
synpolydactyly +   
tarsal-carpal coalition syndrome  
Taurodontia Absent Teeth Sparse Hair 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Timothy syndrome  
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations  
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Winter Shortland Temple Syndrome  
Yunis-Varon syndrome  
Zerres Rietschel Majewski Syndrome 
Zygodactyly 1 

Synonyms
Primary IDs: MESH:C563464
Alternate IDs: DOID:9002828 ;   RDO:0012712
Definition Sources: https://www.omim.org/entry/225060

paths to the root

NHLBI Logo

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