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Ontology Browser

Term:
Autosomal Recessive Craniometaphyseal Dysplasia (DOID:9007245)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (0) Pig: (1)
Parent Terms Term With Siblings Child Terms
Autosomal Dominant Craniometaphyseal Dysplasia  
Autosomal Recessive Craniometaphyseal Dysplasia  
Basel-Vanagaite-Smirin-Yosef syndrome  
Bazopoulou Kyrkanidou Syndrome 
Cote Katsantoni Syndrome 
Craniofacial Dysostosis with Diaphyseal Hyperplasia 
Crouzon syndrome-acanthosis nigricans syndrome  
Freeman-Sheldon Syndrome  
Hallermann-Streiff syndrome +  
Hypomandibular Faciocranial Dysostosis 
Kaplan Plauchu Fitch Syndrome 
Mandibulofacial Dysostosis +   
Maxillofacial Dysostosis 
Oculomaxillofacial Dysostosis  
Schwartz-Lelek Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Whistling Face Syndrome, Recessive Form 

Synonyms
Exact Synonyms: CMDR ;   craniometaphyseal dysplasia, autosomal recessive type
Primary IDs: MESH:C536570
Alternate IDs: OMIM:218400 ;   RDO:0002190

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