OBO ID: DOID:0070343
Term Name: CSF1R-related brain malformation and osteopetrosis Search Ontology:
Synonyms:
  • osteoporosis and infantile neuroaxonal dystrophy
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)