Online Mendelian Inheritance in Man - VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/219730 http://purl.bioontology.org/ontology/OMIM/219730
Preferred Name	VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Synonyms	VMCKD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VMCKD
prefLabel	VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Gene Symbol	CRB2 FSGS9 VMCKD
notation	219730
Scope Statement	Most pregnancies with affected fetuses resulted in elective termination [MISCELLANEOUS] Onset in utero [MISCELLANEOUS] Caused by mutation in the crumbs cell polarity complex component 2 gene (CRB2, 609720.0006) [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/MTHU031889 http://purl.bioontology.org/ontology/OMIM/MTHU036560 http://purl.bioontology.org/ontology/OMIM/MTHU045376 http://purl.bioontology.org/ontology/OMIM/MTHU037359 http://purl.bioontology.org/ontology/OMIM/MTHU031881 http://purl.bioontology.org/ontology/OMIM/MTHU031882 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU001601 http://purl.bioontology.org/ontology/OMIM/MTHU031884 http://purl.bioontology.org/ontology/OMIM/MTHU031883 http://purl.bioontology.org/ontology/OMIM/MTHU004804 http://purl.bioontology.org/ontology/OMIM/MTHU031885 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU031888 http://purl.bioontology.org/ontology/OMIM/MTHU037109 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU067572 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	9q33.3
tui	T047
cui	C1857423

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