About: acrofacial dysostosis Cincinnati type

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease acrofacial dysostosis nodeID://b50938699 nodeID://b50938700 nodeID://b50938701
label	acrofacial dysostosis Cincinnati type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060353
created_by	elvira
creation_date	2015-07-15T16:37:59Z
database_cross_reference	OMIM:616462
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938702

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