About: otopalatodigital syndrome spectrum disorder

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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	bone development disease
label	otopalatodigital syndrome spectrum disorder
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111782
database_cross_reference	ORDO:364541
has_exact_synonym	OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.
is subClassOf of	otopalatodigital syndrome type 1 otopalatodigital syndrome type 2 frontometaphyseal dysplasia Melnick-Needles syndrome Frank-Ter Haar syndrome
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945456

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