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Namespace Prefixes

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Statements

Subject Item

n2:DOID_5768

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0060379

rdfs:label

Nager acrofacial dysostosis

rdfs:comment

OMIM mapping confirmed by DO. [SN].

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obo:id

DOID:5768

obo:hasDbXref

OMIM:154400 GARD:498 NCI:C35795 UMLS_CUI:C1332140

obo:hasExactSynonym

preaxial acrofacial dysostosis acrofacial dysostosis 1, Nager type preaxial manibulofacial dysostosis AFD Nager syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n7:NCIthesaurus

n2:IAO_0000115

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.