Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	otopalatodigital syndrome spectrum disorder
Synonyms	fronto-otopalatodigital osteodysplasia OPD spectrum disorder OPSD
Definitions	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.
ID	http://purl.obolibrary.org/obo/DOID_0111782
database_cross_reference	ORDO:364541
definition	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.
has exact synonym	fronto-otopalatodigital osteodysplasia OPD spectrum disorder OPSD
has_obo_namespace	disease_ontology
id	DOID:0111782
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	otopalatodigital syndrome spectrum disorder
notation	DOID:0111782
prefLabel	otopalatodigital syndrome spectrum disorder
subClassOf	http://purl.obolibrary.org/obo/DOID_0080006

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