PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Goldenhar Syndrome

Synonyms
Definitions

A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

ID

http://www.phoc.org.cn/pmo/class/PMO_00037618

Database_Cross_Reference

RCD:X7894

SNOMEDCT_US:46567003

MTH:NOCODE

SNM:D-5104

SNOMEDCT_US:254026007

CHV:0000025862

RCD:PG0F.

SNOMEDCT_US:367462009

CSP:0725-7823

SNOMEDCT_US:703973009

ICD10CM:Q87.0

MEDCIN:312432

NCI:C84740

NCI_NICHD:C84740

NDFRT:N0000001375

MSH:D006053

SNOMEDCT_US:109393007

MDR:10050349

SNMI:D4-01301

SNMI:D4-00720

SNOMEDCT_US:254025006

DO:DOID:2907

SNOMEDCT_US:205418005

SNM:D-5101

JABL:492

MDR:10051934

SNOMEDCT_US:15557005

OMIM:164210

Definition

A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

label

Goldenhar Syndrome

MCID

MC00090095

PMOID

PMO:00037618

prefixIRI

pmo:PMO_00037618

prefLabel

Goldenhar Syndrome

Synonym

First arch syndrome, NOS

Dysplasias, Facioauriculovertebral

Otomandibular syndrome

Craniofacial microsomia

Oculoauriculovertebral dysplasia

hemignathia and microtia syndrome

Microsomia, Craniofacial

Goldenhar Gorlin Syndrome

Facio-auriculo-vertebral spectrum

Facial Dysplasia, Lateral

Microsomias, Craniofacial

Dysplasia, Lateral Facial

Oculoauricular vertebral dysplasia

Oculoauriculovertebral Spectrum

Oculoauriculovertebral Dysplasias

first and second branchial arch syndrome

facio-auriculovertebral sequence

mandibulofacial dysostosis with epibulbar dermoids syndrome

oculoauriculovertebral dysplasia

unilateral craniofacial microsomia

lateral facial dysplasia (LFD)

OCULOAURICULOVERTEBRAL SPECTRUM

oculo-auriculovertebral spectrum

Oral Mandibular Auricular Syndrome

Goldenhar syndrome (GS)

otomandibular facial dysmorphogenesis

first arch syndrome

First and Second Branchial Arch Syndrome

unilateral intrauterine facial necrosis

Disease, Goldenhar

First arch syndrome

OAV DYSPLASIA

Lateral Facial Dysplasias

goldenhars syndrome

Oculoauriculovertebral Dysplasia

Goldenhar Syndrome [Disease/Finding]

First and second arch syndrome

Goldenhar sequence

Oculoauriculovertebral Syndrome

intrauterine facial necrosis

Goldenhar-Gorlin Syndromes

oculo-auriculovertebral (OAV) dysplasia

syndrome goldenhar

Dysplasia, Facioauriculovertebral

Facio-auriculo-vertebral spectrum (disorder) [Ambiguous]

goldenhar's syndrome

Facioauriculovertebral Sequences

Facio-auriculo-vertebral spectrum (disorder)

First and Second Pharyngeal Arch Syndromes

facio-auriculovertebral malformation complex

Otomandibular Dysostoses

Facio-auriculo-vertebral anomalad

FACIOAURICULOVERTEBRAL SEQUENCE

Craniofacial microsomia (disorder)

Craniofacial Microsomia

Lateral Facial Dysplasia

Goldenhar Disease

Syndrome, Oculoauriculovertebral

Dysplasias, Oculoauriculovertebral

Goldenhar-Gorlin Syndrome

Oral-Mandibular-Auricular Syndromes

Otomandibular Dysostosis

otofacial dysostosis

oculo-auriculovertebral spectrum (OAVS)

Otomandibular dysostosis

otomandibular syndrome

Syndrome, Goldenhar

facio-auriculovertebral (FAV) sequence

Dysplasia, Oculoauriculovertebral

Otomandibular dysostosis (disorder)

lateral facial dysplasia

Goldenhar syndrome (disorder)

First and second branchial arch syndrome (disorder)

Oculoauriculovertebral Spectrums

Craniofacial Microsomias

Syndrome, Oral-Mandibular-Auricular

otomandibular dysostosis

oculo-auriculovertebral dysplasia

Goldenhar's syndrome

unilateral mandibulofacial dysostosis

Syndrome, Goldenhar-Gorlin

Dysplasias, Lateral Facial

Hemifacial Microsomia

Franceschetti-Goldenhar syndrome

Facioauriculovertebral Sequence

OAVS

Syndromes, Oral-Mandibular-Auricular

OAV (oculoauriculovertebral) dysplasia

goldenhar syndrome

Moeschler Clarren Syndrome

Goldenhar's syndrome (diagnosis)

oromandibulo-otic syndrome

First arch syndrome (disorder)

FAV SEQUENCE

Oral-Mandibular-Auricular Syndrome

necrotic facial dysplasia

Facioauriculovertebral Dysplasias

Goldenhar-Gorlin syndrome

oromandibulo-auricular syndrome

Goldenhar syndrome

Dysostosis, Otomandibular

Dysostoses, Otomandibular

Syndromes, Goldenhar-Gorlin

First and second branchial arch syndrome

Syndrome, Moeschler Clarren

facio-auriculovertebral anomalad

First AND second branchial arch syndrome

HEMIFACIAL MICROSOMIA

auriculobranchiogenital dysplasia

congenital deformity of head Goldenhar's syndrome

Facial Dysplasias, Lateral

OCULOAURICULOVERTEBRAL DYSPLASIA

GOLDENHAR SYNDROME

dysplasia oculo-auricularis

Facioauriculovertebral Dysplasia

Tree Number

T9.3.9.22.2.1.3.1

T9.3.6.8.1.3.1

T9.8.3.7.8.1.3.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00037617

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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://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://www.limics.org/hrdo/rdfns#pat_id_499 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265240 OCHV LOOM