About: orofaciodigital syndrome IX

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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://b50938750
label	orofaciodigital syndrome IX
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060382
created_by	elvira
creation_date	2015-09-18T15:24:17Z
database_cross_reference	GARD:10520 MESH:C557818 OMIM:258865 ORDO:141007 SNOMEDCT_US_2021_09_01:718680001 UMLS_CUI:C0796102
has_exact_synonym	OFD9 (en) orofaciodigital syndrome with retinal abnormalities (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 highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938751

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