Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614262 http://purl.bioontology.org/ontology/OMIM/614262
Preferred Name	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Synonyms	APUG
Type	http://www.w3.org/2002/07/owl#Class

altLabel	APUG
prefLabel	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Gene Symbol	LCCS10 NEK9 APUG NC NERCC1
Scope Statement	Caused by mutation in the NIMA-related kinase 9 gene (NEK9, 609798.0002) [MOLECULAR BASIS] One family with 3 affected girls has been reported (as of October 2011) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU035483 http://purl.bioontology.org/ontology/OMIM/MTHU004090 http://purl.bioontology.org/ontology/OMIM/MTHU033304 http://purl.bioontology.org/ontology/OMIM/MTHU021307 http://purl.bioontology.org/ontology/OMIM/MTHU004603 http://purl.bioontology.org/ontology/OMIM/MTHU001440 http://purl.bioontology.org/ontology/OMIM/MTHU005153 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU002185 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU005783 http://purl.bioontology.org/ontology/OMIM/MTHU035481 http://purl.bioontology.org/ontology/OMIM/MTHU035482 See more See less
tui	T047
Gene Locus	14q24.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614262
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3280309
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display