Experimental Factor Ontology

Last uploaded: June 18, 2024

Preferred Name	obsolete_Goldenhar syndrome
Synonyms	OAVS Oculoauriculovertebral syndrome Oculoauriculovertebral spectrum Expanded spectrum of hemifacial microsomia Oculoauriculovertebral dysplasia OAV dysplasia Facioauriculovertebral dysplasia
Definitions	Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
ID	http://www.orpha.net/ORDO/Orphanet_374
Obsolete	true
database_cross_reference	OMIM:164210 ICD10:Q87.0 UMLS:C0265240 MeSH:D006053 UMLS:C0432130
definition	Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Facioauriculovertebral dysplasia OAV dysplasia Oculoauriculovertebral dysplasia Expanded spectrum of hemifacial microsomia Oculoauriculovertebral spectrum Oculoauriculovertebral syndrome OAVS
label	obsolete_Goldenhar syndrome
obsoleted_in_version	3.41.0
prefLabel	obsolete_Goldenhar syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0015397
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_374	ORDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0008112	MONDO	LOOM