{
    "disease_id": "DOID:0060556",
    "recommended_name": {
        "id": "DOID:0060556",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060556",
        "name": "Kufor-Rakeb syndrome",
        "description": "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0060556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060556",
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            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060556",
            "name": "autosomal recessive juvenile onset Parkinson disease 9",
            "description": ""
        },
        {
            "id": "MONDO:0011706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011706",
            "name": "Kufor-Rakeb syndrome",
            "description": "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment."
        },
        {
            "id": "MONDO:0011706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011706",
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            "description": ""
        },
        {
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            "resource": "MONDO",
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            "description": ""
        },
        {
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            "resource": "MONDO",
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            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011706",
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            "description": ""
        },
        {
            "id": "MONDO:0011706",
            "resource": "MONDO",
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            "description": ""
        },
        {
            "id": "MONDO:0011706",
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            "url": "https://monarchinitiative.org/disease/MONDO:0011706",
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        },
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        },
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            "resource": "MONDO",
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            "name": "park 9",
            "description": ""
        },
        {
            "id": "MIM:606693",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606693",
            "name": "Kufor-Rakeb syndrome",
            "description": "Kufor-Rakeb syndrome"
        }
    ],
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    ],
    "unlinked_id_list": [],
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            "id": "DOID:0060556",
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            "categories": []
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyamine-transporting ATPase 13A3",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.16",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family homolog up-regulated in senescence cells 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase type 13A3",
                    "type": "synonym"
                },
                {
                    "name": "Putrescine transporting ATPase",
                    "type": "synonym"
                },
                {
                    "name": "polyamine-transporting ATPase 13A3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "polyamine-transporting ATPase 13A3",
                    "type": "synonym"
                },
                {
                    "name": "probable cation-transporting ATPase 13A3",
                    "type": "synonym"
                },
                {
                    "name": "putrescine transporting ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP13A3",
                    "type": "recommended"
                },
                {
                    "name": "AFURS1",
                    "type": "synonym"
                },
                {
                    "name": "ATP13A3",
                    "type": "synonym"
                },
                {
                    "name": "PPH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H7F0-1",
            "evidence": [
                {
                    "id": "0060556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4VNC0-1",
            "uniprot_ac": "Q4VNC0",
            "uniprot_id": "AT135_HUMAN",
            "refseq_ac": "NP_940907",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cation-transporting ATPase 13A5",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase type 13A5",
                    "type": "synonym"
                },
                {
                    "name": "P5-ATPase isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "P5-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "probable cation-transporting ATPase 13A5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP13A5",
                    "type": "recommended"
                },
                {
                    "name": "ATP13A5",
                    "type": "synonym"
                },
                {
                    "name": "PRO1004",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4VNC0-1",
            "evidence": [
                {
                    "id": "0060556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060556"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4VNC1-1",
            "uniprot_ac": "Q4VNC1",
            "uniprot_id": "AT134_HUMAN",
            "refseq_ac": "NP_115655",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cation-transporting ATPase 13A4",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATPase type 13A4",
                    "type": "synonym"
                },
                {
                    "name": "P5-ATPase isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "cation-transporting P5-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "probable cation-transporting ATPase 13A4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP13A4",
                    "type": "recommended"
                },
                {
                    "name": "ATP13A4",
                    "type": "synonym"
                },
                {
                    "name": "PRO9871",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4VNC1-1",
            "evidence": [
                {
                    "id": "0060556",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060556"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060556"
}