Online Mendelian Inheritance in Man - BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/213600 http://purl.bioontology.org/ontology/OMIM/213600
Preferred Name	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
Synonyms	IBGC2, FORMERLY PRIMARY FAMILIAL BRAIN CALCIFICATION PFBC STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET IBGC1 STRIOPALLIDODENTATE CALCINOSIS, BILATERAL BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2, FORMERLY BSPDC BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY IBGC3, FORMERLY CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET FERROCALCINOSIS, CEREBROVASCULAR FAHR DISEASE, FAMILIAL, FORMERLY IBGC See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IBGC2, FORMERLY PRIMARY FAMILIAL BRAIN CALCIFICATION PFBC STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET IBGC1 STRIOPALLIDODENTATE CALCINOSIS, BILATERAL BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2, FORMERLY BSPDC BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY IBGC3, FORMERLY CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET FERROCALCINOSIS, CEREBROVASCULAR FAHR DISEASE, FAMILIAL, FORMERLY IBGC See more See less
prefLabel	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
Gene Symbol	MLVAR GLVR2 SLC20A2 IBGC1 IBGC2
Scope Statement	Asymptomatic younger patients show characteristic basal ganglia calcifications [MISCELLANEOUS] Adult onset (range 30 to 50 years) [MISCELLANEOUS] Caused by mutation in the solute carrier family 20 (phosphate transporter), member 2 gene (SLC20A, 158378.0001) [MOLECULAR BASIS] See also a childhood-onset form (114100) [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004522 http://purl.bioontology.org/ontology/OMIM/MTHU004613 http://purl.bioontology.org/ontology/OMIM/MTHU007513 http://purl.bioontology.org/ontology/OMIM/MTHU003622 http://purl.bioontology.org/ontology/OMIM/MTHU014015 http://purl.bioontology.org/ontology/OMIM/MTHU012413 http://purl.bioontology.org/ontology/OMIM/MTHU003911 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU003010 http://purl.bioontology.org/ontology/OMIM/MTHU004053 http://purl.bioontology.org/ontology/OMIM/MTHU014023 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU014022 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU014020 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU000870 http://purl.bioontology.org/ontology/OMIM/MTHU001205 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU014016 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU014024 http://purl.bioontology.org/ontology/OMIM/MTHU014018 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU014019 http://purl.bioontology.org/ontology/OMIM/MTHU000534 http://purl.bioontology.org/ontology/OMIM/MTHU014021 http://purl.bioontology.org/ontology/OMIM/MTHU002752 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	8p11.21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	213600
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4551624
Moved from	614540 606656
OMIM Entry Type	3
OMIM MimType Value	pound

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