Preferred Name

Goldenhar syndrome

Synonyms

Syndrome oculo-auriculo-vertébrale

OAVS

Microsomia emifacciale

OAV dysplasia

ID

http://www.limics.org/hrdo/rdfns#pat_id_499

ageOfDeath

Normal

Normal

Normal

Normale

Normal

Normal

Normal

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Syndrome oculo-auriculo-vertébrale

OAVS

Microsomia emifacciale

OAV dysplasia

Craniofacial microsomia

Microsomie cranio-faciale

Oculoauriculovertebral syndrome

Oculoauriculovertebral spectrum

Dysplasie, okulo-aurikulo-vertebrale

OAVS

Displasia óculo-auriculo-vertebral (OAV)

Dysplasie oculo-auriculo-vertébrale

Dysplasie facio-auriculo-vertébrale

Microssomia hemifacial

Displasia oculo-auricolo-vertebrale (OAV)

Oculoauriculovertebral dysplasia

Mikrosomie, kraniofaziale

Okulo-Aurikulo-Vertebrales Syndrom

Facioauriculovertebral dysplasia

Syndrom des ersten und zweiten Kiemenbogens

Dysplasie OAV

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22goldenhar+syndrome%22%5BMeSH+Terms%5D+OR+Goldenhar+syndrome%5BText+Word%5D+OR+Oculoauriculovertebral%5Btiab%5D

id_MeSH

D006053

id_MIM

164210

id_OMS

Q87.0

id_Orpha

374

id_SNOMEDCT

15557005

205418005

254026007

367462009

id_UMLS

C0265240

C0432130

inheritance

Autosomal dominant

Autosomique dominant

Esporádico

Autosomal dominant

Autosomica dominante

Autosómico dominate

Sporadic

Sporadisch

Sporadique

Autosomal-dominant

Sporadica

Sporadic

Autossómica dominante

Esporádica

patType

malformation syndrome

prefixIRI

hrdo:pat_id_499

prefLabel

Syndrome de Goldenhar

Síndrome de Goldenhar

Sindrome di Goldenhar

Goldenhar syndrome

Síndrome de Goldenhar

Goldenhar-Syndrom

prevalence

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2907 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2907 DOID LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Goldenhar_Syndrome PEDTERM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25862 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Goldenhar_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/MESH/D006053 MESH LOOM
http://purl.org/skeletome/bonedysplasia#Goldenhar_syndrome BDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2907 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006053 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_374 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.231.576.410 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84740 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0007241 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.231.576.410 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037618 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906099663728477 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.231.576.410 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84740 BERO LOOM
http://purl.obolibrary.org/obo/DOID_2907 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2907 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2907 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2907 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205418005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/PG0F. RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265240 OCHV LOOM