About: orofaciodigital syndrome V

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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 recessive disease orofaciodigital syndrome nodeID://b50938740
label	orofaciodigital syndrome V
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060375
created_by	elvira
creation_date	2015-09-18T15:00:19Z
database_cross_reference	MESH:C557819 OMIM:174300 ORDO:2919 SNOMEDCT_US_2021_09_01:722105002 UMLS_CUI:C1868118
has_exact_synonym	polydactyly, postaxial, with median cleft of upper lip (en) OFD5 (en) orofaciodigital syndrome Thurston type (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938741

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