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Metadata
ID DOID:5768
Name Nager acrofacial dysostosis
Definition An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis, http://ghr.nlm.nih.gov/condition/nager-syndrome, https://www.faces-cranio.org/nager
Xrefs

GARD:498

NCI:C35795

OMIM:154400

UMLS_CUI:C1332140

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

acrofacial dysostosis 1, Nager type [EXACT]

AFD [EXACT]

Nager syndrome [EXACT]

preaxial acrofacial dysostosis [EXACT]

preaxial manibulofacial dysostosis [EXACT]

Parent Relationships

is_a acrofacial dysostosis

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