BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Goldenhar syndrome
Synonyms

Otomandibular dysostosis

HEMIFACIAL MICROSOMIA

First AND second branchial arch syndrome

Facio-auriculo-vertebral spectrum

First arch syndrome

OAV (oculoauriculovertebral) dysplasia

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. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_2907

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:46567003

OMIM:164210

ICD10CM:Q87.0

UMLS_CUI:C0265240

MESH:D006053

GARD:6540

NCI:C84740

ORDO:374

has exact synonym

Otomandibular dysostosis

HEMIFACIAL MICROSOMIA

First AND second branchial arch syndrome

Facio-auriculo-vertebral spectrum

First arch syndrome

OAV (oculoauriculovertebral) dysplasia

has_obo_namespace

disease_ontology

id

DOID:2907

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Goldenhar syndrome

notation

DOID:2907

prefLabel

Goldenhar syndrome

textual 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.

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2907 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2907 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2907 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2907 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2907 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2907 FNS-H SAME_URI
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 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2907 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2907 DDSS 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

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