Online Mendelian Inheritance in Man - AURICULOCONDYLAR SYNDROME 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/602483 http://purl.bioontology.org/ontology/OMIM/602483
Preferred Name	AURICULOCONDYLAR SYNDROME 1
Synonyms	QUESTION MARK EARS SYNDROME ARCND1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	QUESTION MARK EARS SYNDROME ARCND1
prefLabel	AURICULOCONDYLAR SYNDROME 1
Gene Symbol	GNAI3 ARCND1
Scope Statement	Intrafamilial variability [MISCELLANEOUS] Caused by mutation in the guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 gene (GNAI3, 139370.0001) [MOLECULAR BASIS] Prenatal onset [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005407 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU005405 http://purl.bioontology.org/ontology/OMIM/MTHU005411 http://purl.bioontology.org/ontology/OMIM/MTHU005389 http://purl.bioontology.org/ontology/OMIM/MTHU036377 http://purl.bioontology.org/ontology/OMIM/MTHU005403 http://purl.bioontology.org/ontology/OMIM/MTHU005412 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU005392 http://purl.bioontology.org/ontology/OMIM/MTHU068340 http://purl.bioontology.org/ontology/OMIM/MTHU000316 http://purl.bioontology.org/ontology/OMIM/MTHU068341 http://purl.bioontology.org/ontology/OMIM/MTHU005406 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU005401 http://purl.bioontology.org/ontology/OMIM/MTHU001511 http://purl.bioontology.org/ontology/OMIM/MTHU005391 http://purl.bioontology.org/ontology/OMIM/MTHU000261 http://purl.bioontology.org/ontology/OMIM/MTHU036550 http://purl.bioontology.org/ontology/OMIM/MTHU005394 http://purl.bioontology.org/ontology/OMIM/MTHU005395 http://purl.bioontology.org/ontology/OMIM/MTHU005402 http://purl.bioontology.org/ontology/OMIM/MTHU005413 http://purl.bioontology.org/ontology/OMIM/MTHU005386 http://purl.bioontology.org/ontology/OMIM/MTHU042585 http://purl.bioontology.org/ontology/OMIM/MTHU005409 http://purl.bioontology.org/ontology/OMIM/MTHU005393 http://purl.bioontology.org/ontology/OMIM/MTHU072509 http://purl.bioontology.org/ontology/OMIM/MTHU068338 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU005387 http://purl.bioontology.org/ontology/OMIM/MTHU005410 http://purl.bioontology.org/ontology/OMIM/MTHU038567 http://purl.bioontology.org/ontology/OMIM/MTHU005388 http://purl.bioontology.org/ontology/OMIM/MTHU068339 http://purl.bioontology.org/ontology/OMIM/MTHU005408 See more See less
tui	T047
Gene Locus	1p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602483
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4551996 C1865295
OMIM Entry Type	3
OMIM MimType Value	pound

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