MeSH Browser

MeSH Supplementary: Auriculo-condylar syndrome
Unique ID: C538270
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538270
Entry Term(s): ARCND1; Auriculocondylar syndrome; Auriculocondylar syndrome 1; Cosman ear; Ears prominent and constricted; Question Mark Ears Syndrome; Question mark ear; Question-Mark Ear Syndrome
Registry Number: 0
Heading Mapped to: Ear / *abnormalities; *Ear Diseases
Frequency: 34
Note: An autosomal dominant disorder that affects morphogenesis of the BRANCHIAL REGION of the embryo, specifically the first and second pharyngeal arches. It is characterized by malformed ears (question mark ears), prominent cheeks,MICROSTOMIA, abnormal TEMPOROMANDIBULAR JOINT, and MANDIBULAR CONDYLE hypoplasia. Mutations in the GNAI3 gene have been identified. OMIM: 602483
Date of Entry: 2010/08/25
Revision Date: 2022/02/10

Concept UI: M0532731
Registry Number: 0
Terms: Auriculo-condylar syndrome Preferred Term
Term UI T745269
Date02/24/2009
LexicalTag NON
ThesaurusID; Question mark ear
Term UI T745271
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Cosman ear
Term UI T001118127
Date02/10/2022
LexicalTag NON
ThesaurusID NLM (2022); Question Mark Ears Syndrome
Term UI T808701
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Question-Mark Ear Syndrome
Term UI T840961
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Auriculocondylar syndrome
Term UI T745270
Date02/24/2009
LexicalTag NON
ThesaurusID; Ears prominent and constricted
Term UI T745272
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Auriculo-condylar syndrome MeSH Supplementary Concept Data 2024