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 | ||
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 |