Details of Disease | DrugMAP

General Information of Disease (ID: DISU86UI)

Disease Name	Basal ganglia calcification, idiopathic, 7, autosomal recessive
Synonyms	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7
Disease Hierarchy	DISNZJTB: Bilateral striopallidodentate calcinosis DISBBY0S: Idiopathic disease DISU86UI: Basal ganglia calcification, idiopathic, 7, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0032673 UMLS CUI C5193025 OMIM ID 618317 MedGen ID 1683911

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYORG	OTVK4VMH	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14.