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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: GARD:6540;   NCI:C84740;   ORDO:374
For additional species annotation, visit the Alliance of Genome Resources.


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Goldenhar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Goldenhar syndrome 1
        Axial Mesodermal Dysplasia Spectrum 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Goldenhar syndrome 1
                          Axial Mesodermal Dysplasia Spectrum 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.