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Ontology Browser

Term:
acrofacial dysostosis (DOID:0060379)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
dysostosis +     
Achard syndrome 
acrodysostosis +   
acrofacial dysostosis +   
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)
acrofrontofacionasal dysostosis 
acromelic frontonasal dysostosis  
Agenesis of Cervical Vertebrae 
brachydactyly +   
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Cenani-Lenz syndactyly syndrome  
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes +   
Cousin Syndrome  
Crouzon syndrome +   
Diaphanospondylodysostosis  
focal dermal hypoplasia +   
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia 1  
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency  
Isolated Thoracic Dysostosis 
Klippel-Feil syndrome +   
Laurin-Sandrow syndrome  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
orofaciodigital syndrome +   
Rubinstein-Taybi syndrome +   
spondylocostal dysostosis +   
Spondylospinal Thoracic Dysostosis 
synostosis +   
Thoracopelvic Dysostosis 

Synonyms
Primary IDs: RDO:9004061
Definition Sources: https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis "DO"

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