{
    "disease_id": "DOID:0070343",
    "recommended_name": {
        "id": "DOID:0070343",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070343",
        "name": "CSF1R-related brain malformation and osteopetrosis",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0070343",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070343",
            "name": "osteoporosis and infantile neuroaxonal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010866",
            "name": "infantile osteopetrosis with neuroaxonal dysplasia",
            "description": "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus."
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070343"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070343",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070343",
            "categories": []
        },
        {
            "id": "MONDO:0010866",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010866",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9I8N6-1",
            "uniprot_ac": "Q9I8N6",
            "uniprot_id": "CSF1R_DANRE",
            "refseq_ac": "NP_571747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Macrophage colony-stimulating factor 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1-R",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fms homolog",
                    "type": "synonym"
                },
                {
                    "name": "c-fms",
                    "type": "synonym"
                },
                {
                    "name": "fms proto-oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony-stimulating factor 1 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony-stimulating factor 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "pfeffer",
                    "type": "synonym"
                },
                {
                    "name": "pfe",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fms homolog",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene fms homolog",
                    "type": "synonym"
                },
                {
                    "name": "salz",
                    "type": "synonym"
                },
                {
                    "name": "sal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "csf1ra",
                    "type": "recommended"
                },
                {
                    "name": "csf1r",
                    "type": "recommended"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "csf1ra",
                    "type": "synonym"
                },
                {
                    "name": "csf1r",
                    "type": "synonym"
                },
                {
                    "name": "fms",
                    "type": "synonym"
                },
                {
                    "name": "panther",
                    "type": "synonym"
                },
                {
                    "name": "si:zfos-1069f5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I8N6-1",
            "evidence": [
                {
                    "id": "0070343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09581-1",
            "uniprot_ac": "P09581",
            "uniprot_id": "CSF1R_MOUSE",
            "refseq_ac": "NP_001032948",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Macrophage colony-stimulating factor 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1-R",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fms",
                    "type": "synonym"
                },
                {
                    "name": "c-fms",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony-stimulating factor 1 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony-stimulating factor 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fms",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene fms",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Csf1r",
                    "type": "recommended"
                },
                {
                    "name": "CD115",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "Csf1r",
                    "type": "synonym"
                },
                {
                    "name": "Csfmr",
                    "type": "synonym"
                },
                {
                    "name": "Fim-2",
                    "type": "synonym"
                },
                {
                    "name": "Fim2",
                    "type": "synonym"
                },
                {
                    "name": "Fms",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "M-CSFR",
                    "type": "synonym"
                }
            ],
            "record_id": "P09581-1",
            "evidence": [
                {
                    "id": "0070343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00495-1",
            "uniprot_ac": "Q00495",
            "uniprot_id": "CSF1R_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Macrophage colony-stimulating factor 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1-R",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fms",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Csf1r",
                    "type": "recommended"
                },
                {
                    "name": "Csfmr",
                    "type": "synonym"
                },
                {
                    "name": "Fms",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00495-1",
            "evidence": [
                {
                    "id": "0070343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07333-1",
            "uniprot_ac": "P07333",
            "uniprot_id": "CSF1R_HUMAN",
            "refseq_ac": "NP_001275634",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Macrophage colony-stimulating factor 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD115 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1-R",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "FMS proto-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                },
                {
                    "name": "McDonough feline sarcoma viral (v-fms) oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fms",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony stimulating factor I receptor",
                    "type": "synonym"
                },
                {
                    "name": "macrophage colony-stimulating factor 1 receptor isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fms",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSF1R",
                    "type": "recommended"
                },
                {
                    "name": "BANDDOS",
                    "type": "synonym"
                },
                {
                    "name": "C-FMS",
                    "type": "synonym"
                },
                {
                    "name": "CD115",
                    "type": "synonym"
                },
                {
                    "name": "CSF-1R",
                    "type": "synonym"
                },
                {
                    "name": "CSF1R",
                    "type": "synonym"
                },
                {
                    "name": "CSFR",
                    "type": "synonym"
                },
                {
                    "name": "FIM2",
                    "type": "synonym"
                },
                {
                    "name": "FMS",
                    "type": "synonym"
                },
                {
                    "name": "GPSC",
                    "type": "synonym"
                },
                {
                    "name": "HDLS1",
                    "type": "synonym"
                },
                {
                    "name": "HDLS",
                    "type": "synonym"
                },
                {
                    "name": "M-CSF-R",
                    "type": "synonym"
                }
            ],
            "record_id": "P07333-1",
            "evidence": [
                {
                    "id": "0070343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070343"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070343"
}