OBO ID: DOID:0070343 |
Term Name: | CSF1R-related brain malformation and osteopetrosis | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793/ | ||
References: | |||
Ontology: | Human Disease ( DOID:0070343 ) |
OTHER CSF1R-related brain malformation and osteopetrosis PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
Fish | Conditions | Citations |
---|---|---|
csf1raj4e1/j4e1 | standard conditions | Oosterhof et al., 2019 |
PHENOTYPE
No data available
CITATIONS (2)
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.