{
    "disease_id": "DOID:0081360",
    "recommended_name": {
        "id": "DOID:0081360",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081360",
        "name": "spastic quadriplegic cerebral palsy 2",
        "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele."
    },
    "synonyms": [
        {
            "id": "MONDO:0013033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "name": "cerebral palsy, spastic quadriplegic, 2",
            "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene."
        },
        {
            "id": "MONDO:0013033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "name": "KANK1 spastic quadriplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "name": "cerebral palsy, spastic quadriplegic, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "name": "cerebral palsy, spastic quadriplegic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "name": "spastic quadriplegia caused by mutation in KANK1",
            "description": ""
        },
        {
            "id": "MONDO:0013033",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "name": "CPSQ2",
            "description": ""
        },
        {
            "id": "MIM:612900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612900",
            "name": "Cerebral palsy, spastic quadriplegic 2",
            "description": "Cerebral palsy, spastic quadriplegic 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081360"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081360",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081360",
            "categories": []
        },
        {
            "id": "MONDO:0013033",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013033",
            "categories": []
        },
        {
            "id": "MIM:612900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RQY7-1",
            "uniprot_ac": "A0A8M1RQY7",
            "uniprot_id": "A0A8M1RQY7_DANRE",
            "refseq_ac": "NP_001352186",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domains 1",
                    "type": "synonym"
                },
                {
                    "name": "ankrd15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kank1a",
                    "type": "recommended"
                },
                {
                    "name": "fc93h12",
                    "type": "synonym"
                },
                {
                    "name": "kank1a",
                    "type": "synonym"
                },
                {
                    "name": "kank1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-146l2.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc93h12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153166",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RQY7-1",
            "evidence": [
                {
                    "id": "0081360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BJ97-1",
            "uniprot_ac": "A0A8M2BJ97",
            "uniprot_id": "A0A8M2BJ97_DANRE",
            "refseq_ac": "XP_005171947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kank1b",
                    "type": "recommended"
                },
                {
                    "name": "kank1b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-226m8.9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BJ97-1",
            "evidence": [
                {
                    "id": "0081360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q238-1",
            "uniprot_ac": "E9Q238",
            "uniprot_id": "KANK1_MOUSE",
            "refseq_ac": "NP_852069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domains 1",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 15",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domains 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Kidney ankyrin repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain 15",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 15",
                    "type": "synonym"
                },
                {
                    "name": "kidney ankyrin repeat-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank1",
                    "type": "recommended"
                },
                {
                    "name": "A930031B09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ankrd15",
                    "type": "synonym"
                },
                {
                    "name": "D330024H06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kank1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0172",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q238-1",
            "evidence": [
                {
                    "id": "0081360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14678-1",
            "uniprot_ac": "Q14678",
            "uniprot_id": "KANK1_HUMAN",
            "refseq_ac": "NP_001243805",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 15",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L",
                    "type": "synonym"
                },
                {
                    "name": "Kidney ankyrin repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 15",
                    "type": "synonym"
                },
                {
                    "name": "kidney ankyrin repeat-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KANK1",
                    "type": "recommended"
                },
                {
                    "name": "ANKRD15",
                    "type": "synonym"
                },
                {
                    "name": "CPSQ2",
                    "type": "synonym"
                },
                {
                    "name": "KANK1",
                    "type": "synonym"
                },
                {
                    "name": "KANK",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0172",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14678-1",
            "evidence": [
                {
                    "id": "612900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612900"
                },
                {
                    "id": "0081360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AL84-1",
            "uniprot_ac": "A0A8I6AL84",
            "uniprot_id": "A0A8I6AL84_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domains 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AL84-1",
            "evidence": [
                {
                    "id": "0081360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYE0-1",
            "uniprot_ac": "A8DYE0",
            "uniprot_id": "A8DYE0_DROME",
            "refseq_ac": "NP_001097318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10249-PD",
                    "type": "synonym"
                },
                {
                    "name": "Kank, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Kank-PD",
                    "type": "synonym"
                },
                {
                    "name": "kank, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH19041",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH03482",
                    "type": "synonym"
                },
                {
                    "name": "CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Kank",
                    "type": "synonym"
                },
                {
                    "name": "dKank",
                    "type": "synonym"
                },
                {
                    "name": "kank",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYE0-1",
            "evidence": [
                {
                    "id": "0081360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081360"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081360"
}