Online Mendelian Inheritance in Man - MEIER-GORLIN SYNDROME 7 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/617063 http://purl.bioontology.org/ontology/OMIM/617063
Preferred Name	MEIER-GORLIN SYNDROME 7
Synonyms	MGORS7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MGORS7
prefLabel	MEIER-GORLIN SYNDROME 7
Gene Symbol	CDC45L CDC45L2 MGORS7
notation	617063
Scope Statement	Caused by mutation in the cell division cycle 45, S. cerevisiae, homolog-like gene (CDC45L, 603465.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU070255 http://purl.bioontology.org/ontology/OMIM/MTHU037544 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU055875 http://purl.bioontology.org/ontology/OMIM/MTHU002155 http://purl.bioontology.org/ontology/OMIM/MTHU055893 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU012400 http://purl.bioontology.org/ontology/OMIM/MTHU004590 http://purl.bioontology.org/ontology/OMIM/MTHU070259 http://purl.bioontology.org/ontology/OMIM/MTHU001447 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU070256 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU055880 http://purl.bioontology.org/ontology/OMIM/MTHU055879 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU007616 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU057600 http://purl.bioontology.org/ontology/OMIM/MTHU002016 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU055874 http://purl.bioontology.org/ontology/OMIM/MTHU070257 http://purl.bioontology.org/ontology/OMIM/MTHU036653 http://purl.bioontology.org/ontology/OMIM/MTHU032168 http://purl.bioontology.org/ontology/OMIM/MTHU055876 http://purl.bioontology.org/ontology/OMIM/MTHU011317 http://purl.bioontology.org/ontology/OMIM/MTHU016807 http://purl.bioontology.org/ontology/OMIM/MTHU055878 http://purl.bioontology.org/ontology/OMIM/MTHU055877 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU003464 http://purl.bioontology.org/ontology/OMIM/MTHU051395 http://purl.bioontology.org/ontology/OMIM/MTHU070258 http://purl.bioontology.org/ontology/OMIM/MTHU032859 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU000709 http://purl.bioontology.org/ontology/OMIM/MTHU013648 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU055886 http://purl.bioontology.org/ontology/OMIM/MTHU055885 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU002075 http://purl.bioontology.org/ontology/OMIM/MTHU055881 http://purl.bioontology.org/ontology/OMIM/MTHU009953 http://purl.bioontology.org/ontology/OMIM/MTHU009428 http://purl.bioontology.org/ontology/OMIM/MTHU001173 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	22q11.2
tui	T047
cui	C4310738

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