Goldenhar syndrome

Summary
Synonym
  • Facio-auriculo-vertebral spectrum
  • First AND second branchial arch syndrome
  • First arch syndrome
  • HEMIFACIAL MICROSOMIA
  • OAV (oculoauriculovertebral) dysplasia
  • Otomandibular dysostosis
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.
Super Class
syndrome
Disease Ontology
DOID:2907
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2268 FGR FGR proto-oncogene, Src family tyrosine kinase
3055 HCK HCK proto-oncogene, Src family tyrosine kinase
6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase
10992 SF3B2 splicing factor 3b subunit 2
Displaying all 5 entries
Gene ID Gene Symbol Description Source
17096 Lyn LYN proto-oncogene, Src family tyrosine kinase
20779 Src Rous sarcoma oncogene
22612 Yes1 YES proto-oncogene 1, Src family tyrosine kinase
22773 Zic3 zinc finger protein of the cerebellum 3
319322 Sf3b2 splicing factor 3b, subunit 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024