Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615007 http://purl.bioontology.org/ontology/OMIM/615007
Preferred Name	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
Synonyms	IBGC4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IBGC4
prefLabel	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
Gene Symbol	IMF1 PDGFR PENTT PDGFRB KOGS OPDKD IBGC4 See more See less
Scope Statement	Caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (PDGFRB, 173410.0001) [MOLECULAR BASIS] One large French family and 1 patient with sporadic occurrence have been reported (last curated January 2013) [MISCELLANEOUS] Most patients are asymptomatic [MISCELLANEOUS] Variable age of onset of symptoms [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000541 http://purl.bioontology.org/ontology/OMIM/MTHU000138 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU069512 http://purl.bioontology.org/ontology/OMIM/MTHU069510 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU069511 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	5q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615007
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3554321
OMIM Entry Type	3
OMIM MimType Value	pound

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