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Ontology Browser

Term:
acrofacial dysostosis, Catania type (DOID:0060384)
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Parent Terms Term With Siblings Child Terms
acrofacial dysostosis Cincinnati type  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Catania type 
An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)
acrofacial dysostosis, Patagonia type 
acrofrontofacionasal dysostosis 
acromelic frontonasal dysostosis  
Branchial Arch Syndrome X-Linked 
Diamond Blackfan anemia 15 with mandibulofacial dysostosis  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Fara Chlupackova Syndrome 
Goldenhar syndrome +   
Lyngstadaas Syndrome 
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Mental Deficiency  
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
mandibulofacial dysostosis, Guion-Almeida type  
Nager acrofacial dysostosis  
Opitz Reynolds Fitzgerald syndrome 
Patterson Stevenson Syndrome  
postaxial acrofacial dysostosis  
Richieri Costa Guion-Almeida Syndrome 
Treacher Collins syndrome +   
Weyers acrofacial dysostosis  

Synonyms
Exact Synonyms: Acrofacial Dysostosis Catania Form ;   Opitz Mollica Sorge syndrome ;   Opitz-Caltabiano syndrome
Primary IDs: MESH:C538182
Alternate IDs: OMIM:101805 ;   RDO:0004125
Xrefs: GARD:494 ;   ORDO:1786
Definition Sources: https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type "DO" "DO"

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