Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	oculodentodigital dysplasia
Synonyms	Meyer-Schwickerath syndrome odd syndrome ODDD syndrome oculodentoosseous dysplasia oculodentodigital dysplasia oculodentodigital syndrome oculo-dento-digital dysplasia oculo-dento-digital syndrome ODDD
Definitions	Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
ID	http://purl.obolibrary.org/obo/MONDO_0008111
has_exact_synonym	Meyer-Schwickerath syndrome odd syndrome ODDD syndrome oculodentoosseous dysplasia oculodentodigital dysplasia
has_related_synonym	oculodentodigital syndrome oculo-dento-digital dysplasia oculo-dento-digital syndrome ODDD
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
label	oculodentodigital dysplasia
prefixIRI	MONDO:0008111
prefLabel	oculodentodigital dysplasia
seeAlso	https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia
textual definition	Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0019287 http://purl.obolibrary.org/obo/MONDO_0005328 http://purl.obolibrary.org/obo/MONDO_0015160

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008111	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008111	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008111	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008111	EFO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063691	MEDDRA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563160	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2471	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_2710	ORDO	LOOM
http://identifiers.org/omim/164200	REXO	LOOM
http://identifiers.org/omim/164200	GEXO	LOOM
http://identifiers.org/omim/164200	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_164200	CCO	LOOM
http://purl.obolibrary.org/obo/DOID_0060291	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060291	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060291	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060291	FNS-H	LOOM
http://purl.bioontology.org/ontology/MESH/C563160	MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/164200	OMIM	LOOM
http://purl.obolibrary.org/obo/DERMO_0000051	DERMO	LOOM