{
    "disease_id": "DOID:0050719",
    "recommended_name": {
        "id": "DOID:0050719",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050719",
        "name": "cerebral folate receptor alpha deficiency",
        "description": "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy."
    },
    "synonyms": [
        {
            "id": "DOID:0050719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050719",
            "name": "Neurodegeneration due to cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "neurodegenerative syndrome due to cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "neurodegenerative syndrome due to cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "cerebral folate deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MIM:613068",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613068",
            "name": "Neurodegeneration due to cerebral folate transport deficiency",
            "description": "Neurodegeneration due to cerebral folate transport deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050719"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050719",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050719",
            "categories": []
        },
        {
            "id": "MONDO:0013110",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "categories": []
        },
        {
            "id": "MIM:613068",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613068",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35846-1",
            "uniprot_ac": "P35846",
            "uniprot_id": "FOLR1_MOUSE",
            "refseq_ac": "NP_001239481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folate receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "FR-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Folate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Folate-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor 1 (adult)",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "folate-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Folr1",
                    "type": "recommended"
                },
                {
                    "name": "FBP1",
                    "type": "synonym"
                },
                {
                    "name": "Fbp1",
                    "type": "synonym"
                },
                {
                    "name": "Folbp-1",
                    "type": "synonym"
                },
                {
                    "name": "Folbp1",
                    "type": "synonym"
                },
                {
                    "name": "Folr1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35846-1",
            "evidence": [
                {
                    "id": "0050719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15328-1",
            "uniprot_ac": "P15328",
            "uniprot_id": "FOLR1_HUMAN",
            "refseq_ac": "NP_000793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folate receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "Adult folate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FBP",
                    "type": "synonym"
                },
                {
                    "name": "FR-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Folate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Folate receptor, adult",
                    "type": "synonym"
                },
                {
                    "name": "KB cells FBP",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian tumor-associated antigen MOv18",
                    "type": "synonym"
                },
                {
                    "name": "adult folate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "folate binding protein",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor 1 (adult)",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor, adult",
                    "type": "synonym"
                },
                {
                    "name": "ovarian tumor-associated antigen MOv18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOLR1",
                    "type": "recommended"
                },
                {
                    "name": "FBP",
                    "type": "synonym"
                },
                {
                    "name": "FOLR1",
                    "type": "synonym"
                },
                {
                    "name": "FOLR",
                    "type": "synonym"
                },
                {
                    "name": "FR-alpha",
                    "type": "synonym"
                },
                {
                    "name": "FRalpha",
                    "type": "synonym"
                },
                {
                    "name": "NCFTD",
                    "type": "synonym"
                }
            ],
            "record_id": "P15328-1",
            "evidence": [
                {
                    "id": "613068",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613068"
                },
                {
                    "id": "0050719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8M6-1",
            "uniprot_ac": "G3V8M6",
            "uniprot_id": "G3V8M6_RAT",
            "refseq_ac": "NP_598211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Folate receptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "folate binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor 1 (adult)",
                    "type": "synonym"
                },
                {
                    "name": "folate receptor alpha precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Folr1",
                    "type": "recommended"
                },
                {
                    "name": "Fbp1",
                    "type": "synonym"
                },
                {
                    "name": "Folr1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8M6-1",
            "evidence": [
                {
                    "id": "0050719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02783-1",
            "uniprot_ac": "P02783",
            "uniprot_id": "SVS4_RAT",
            "refseq_ac": "NP_036794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seminal vesicle secretory protein 4",
                    "type": "recommended"
                },
                {
                    "name": "ADP",
                    "type": "synonym"
                },
                {
                    "name": "Androgen-dependent protein",
                    "type": "synonym"
                },
                {
                    "name": "SVS IV",
                    "type": "synonym"
                },
                {
                    "name": "SVS protein S",
                    "type": "synonym"
                },
                {
                    "name": "Seminal vesicle protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Seminal vesicle protein-4",
                    "type": "synonym"
                },
                {
                    "name": "Seminal vesicle secretory protein IV",
                    "type": "synonym"
                },
                {
                    "name": "androgen-dependent protein",
                    "type": "synonym"
                },
                {
                    "name": "seminal vesicle protein 2",
                    "type": "synonym"
                },
                {
                    "name": "seminal vesicle protein 4",
                    "type": "synonym"
                },
                {
                    "name": "seminal vesicle secretory protein 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "seminal vesicle secretory protein IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Svs4",
                    "type": "recommended"
                },
                {
                    "name": "ADP",
                    "type": "synonym"
                },
                {
                    "name": "RNSVSP4U",
                    "type": "synonym"
                },
                {
                    "name": "SVS IV",
                    "type": "synonym"
                },
                {
                    "name": "SVSIV1",
                    "type": "synonym"
                },
                {
                    "name": "Svp2",
                    "type": "synonym"
                },
                {
                    "name": "Svp4",
                    "type": "synonym"
                },
                {
                    "name": "Svs4",
                    "type": "synonym"
                }
            ],
            "record_id": "P02783-1",
            "evidence": [
                {
                    "id": "0050719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050719"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050719"
}