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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: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. (DO)
Synonyms:exact_synonym: CFM1;   Craniofacial Microsomia;   FAV SEQUENCE;   Facioauriculovertebral Dysplasia;   Facioauriculovertebral Sequence;   First and Second Branchial 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;   craniofacial microsomia 1;   craniofacial microsomias;   facio-auriculo-vertebral spectrum;   facioauriculovertebral dysplasias;   facioauriculovertebral sequences;   first and second pharyngeal arch syndromes;   first arch syndrome;   oral-mandibular-auricular syndrome;   oral-mandibular-auricular syndromes;   otomandibular dysostoses;   otomandibular dysostosis
 primary_id: MESH:D006053
 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 Foxi3 forkhead box I3 ISS
ISO		 OMIM:164210
ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Goldenhar syndrome		 MouseDO
ClinVar		 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 4:102,933,487...102,937,655
Ensembl chr 4:102,933,409...102,937,655 		JBrowse link
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Goldenhar syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7811205 PMID:34344887 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
G Zyg11b zyg-11 family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar PMID:25741868 PMID:32738032 NCBI chr 5:122,985,548...123,042,735
Ensembl chr 5:122,992,147...123,042,736 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Goldenhar syndrome 6
        Axial Mesodermal Dysplasia Spectrum 0
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      musculoskeletal system disease 8216
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              dysostosis 571
                synostosis 371
                  craniosynostosis 312
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Goldenhar syndrome 6
                          Axial Mesodermal Dysplasia Spectrum 0
paths to the root