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ONTOLOGY REPORT - ANNOTATIONS


Term:Goldenhar syndrome
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Accession:DOID:2907 term browser browse the term
Definition:Mandibulofacial dysostosis with congenital eyelid dermoids.
Synonyms:exact_synonym: Craniofacial Microsomia;   Craniofacial Microsomias;   FAV SEQUENCE;   Facio-auriculo-vertebral spectrum;   Facioauriculovertebral Dysplasia;   Facioauriculovertebral Dysplasias;   Facioauriculovertebral Sequence;   Facioauriculovertebral Sequences;   First and Second Branchial Arch Syndrome;   First and Second Pharyngeal Arch Syndromes;   First arch syndrome;   Goldenhar Disease;   Goldenhar Gorlin Syndrome;   Goldenhar Syndrome with Ipsilateral Radial Defect;   Goldenhar-Gorlin Syndromes;   HFM;   Hemifacial Microsomia;   Hemifacial Microsomia with Radial Defects;   Lateral Facial Dysplasia;   Lateral Facial Dysplasias;   Microsomia Hemifacial Radial Defects;   Moeschler Clarren Syndrome;   OAV (oculoauriculovertebral) dysplasia;   OAV DYSPLASIA;   OAVS;   OAVS with Radial Defect;   Oculoauriculovertebral Dysplasia;   Oculoauriculovertebral Dysplasias;   Oculoauriculovertebral Spectrum;   Oculoauriculovertebral Spectrum with Radial Defect;   Oculoauriculovertebral Spectrums;   Oculoauriculovertebral Syndrome;   Oral Mandibular Auricular Syndrome;   Oral-Mandibular-Auricular Syndromes;   Otomandibular Dysostoses;   Otomandibular Dysostosis
 primary_id: MESH:D006053;   RDO:0003095
 alt_id: OMIM:141400;   OMIM:164210
 xref: ORDO:374
For additional species annotation, visit the Alliance of Genome Resources.


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Goldenhar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Goldenhar syndrome 2
        Axial Mesodermal Dysplasia Spectrum 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        Goldenhar syndrome 2
                          Axial Mesodermal Dysplasia Spectrum 0
paths to the root