General Information of Disease (ID: DISKVIFE)

Disease Name Brain abnormalities, neurodegeneration, and dysosteosclerosis
Synonyms BANDDOS; BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Disease Hierarchy
DISYKSRF: Genetic disease
DISKVIFE: Brain abnormalities, neurodegeneration, and dysosteosclerosis
Disease Identifiers
MONDO ID
MONDO_0032772
UMLS CUI
C5193117
OMIM ID
618476
MedGen ID
1678789

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CSF1R TT7MRDV Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CSF1R OTDYTB9C Definitive Autosomal recessive [1]
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References

1 Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. Am J Hum Genet. 2019 May 2;104(5):936-947. doi: 10.1016/j.ajhg.2019.03.010. Epub 2019 Apr 11.