{
    "disease_id": "DOID:0070288",
    "recommended_name": {
        "id": "DOID:0070288",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070288",
        "name": "primary autosomal recessive microcephaly 17",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070288",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070288",
            "name": "MCPH17",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "microcephaly 17, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene."
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "CIT autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "MCPH17",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "autosomal recessive primary microcephaly caused by mutation in CIT",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "autosomal recessive primary microcephaly caused by mutation in cit",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "cit autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "microcephaly 17, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "name": "microcephaly 17, primary, autosomal recessive; MCPH17",
            "description": ""
        },
        {
            "id": "MIM:617090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617090",
            "name": "Microcephaly 17, primary, autosomal recessive",
            "description": "Microcephaly 17, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070288"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070288",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070288",
            "categories": []
        },
        {
            "id": "MONDO:0014908",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014908",
            "categories": []
        },
        {
            "id": "MIM:617090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617090",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P49025-1",
            "uniprot_ac": "P49025",
            "uniprot_id": "CTRO_MOUSE",
            "refseq_ac": "XP_006530214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citron Rho-interacting kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CRIK",
                    "type": "synonym"
                },
                {
                    "name": "Rho-interacting, serine/threonine-protein kinase 21",
                    "type": "synonym"
                },
                {
                    "name": "citron Rho-interacting kinase isoform X30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cit",
                    "type": "recommended"
                },
                {
                    "name": "C030025P15Rik",
                    "type": "synonym"
                },
                {
                    "name": "CRIK-SK",
                    "type": "synonym"
                },
                {
                    "name": "CRIK",
                    "type": "synonym"
                },
                {
                    "name": "Cit-k",
                    "type": "synonym"
                },
                {
                    "name": "Cit",
                    "type": "synonym"
                },
                {
                    "name": "Crik",
                    "type": "synonym"
                }
            ],
            "record_id": "P49025-1",
            "evidence": [
                {
                    "id": "0070288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14578-1",
            "uniprot_ac": "O14578",
            "uniprot_id": "CTRO_HUMAN",
            "refseq_ac": "NP_001193928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citron Rho-interacting kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CRIK",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 21",
                    "type": "synonym"
                },
                {
                    "name": "citron (rho-interacting, serine/threonine kinase 21)",
                    "type": "synonym"
                },
                {
                    "name": "citron Rho-interacting kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIT",
                    "type": "recommended"
                },
                {
                    "name": "CITK",
                    "type": "synonym"
                },
                {
                    "name": "CIT",
                    "type": "synonym"
                },
                {
                    "name": "CRIK",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0949",
                    "type": "synonym"
                },
                {
                    "name": "MCPH17",
                    "type": "synonym"
                },
                {
                    "name": "STK21",
                    "type": "synonym"
                }
            ],
            "record_id": "O14578-1",
            "evidence": [
                {
                    "id": "617090",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617090"
                },
                {
                    "id": "0070288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PSL7-1",
            "uniprot_ac": "E9PSL7",
            "uniprot_id": "CTRO_RAT",
            "refseq_ac": "NP_001025082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citron rho-interacting kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CRIK",
                    "type": "synonym"
                },
                {
                    "name": "Rho-interacting, serine/threonine-protein kinase 21",
                    "type": "synonym"
                },
                {
                    "name": "citron (rho-interacting, serine/threonine kinase 21)",
                    "type": "synonym"
                },
                {
                    "name": "citron kinase",
                    "type": "synonym"
                },
                {
                    "name": "citron rho-interacting kinase",
                    "type": "synonym"
                },
                {
                    "name": "citron-K kinase",
                    "type": "synonym"
                },
                {
                    "name": "postsynaptic density protein (citron)",
                    "type": "synonym"
                },
                {
                    "name": "rho-interacting, serine/threonine-protein kinase 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cit",
                    "type": "recommended"
                },
                {
                    "name": "CRIK",
                    "type": "synonym"
                },
                {
                    "name": "Cit",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PSL7-1",
            "evidence": [
                {
                    "id": "0070288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI41-1",
            "uniprot_ac": "M9PI41",
            "uniprot_id": "M9PI41_DROME",
            "refseq_ac": "NP_001261768",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10522-PB",
                    "type": "synonym"
                },
                {
                    "name": "drosophila citron kinase",
                    "type": "synonym"
                },
                {
                    "name": "sti-PB",
                    "type": "synonym"
                },
                {
                    "name": "sticky, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sticky",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sti",
                    "type": "recommended"
                },
                {
                    "name": "CG10522",
                    "type": "synonym"
                },
                {
                    "name": "CIT-K",
                    "type": "synonym"
                },
                {
                    "name": "CIT",
                    "type": "synonym"
                },
                {
                    "name": "Citron K",
                    "type": "synonym"
                },
                {
                    "name": "Citron",
                    "type": "synonym"
                },
                {
                    "name": "DCK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10522",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10522",
                    "type": "synonym"
                },
                {
                    "name": "STI",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.388",
                    "type": "synonym"
                },
                {
                    "name": "cit",
                    "type": "synonym"
                },
                {
                    "name": "ck",
                    "type": "synonym"
                },
                {
                    "name": "dck",
                    "type": "synonym"
                },
                {
                    "name": "l(3)7m-62",
                    "type": "synonym"
                },
                {
                    "name": "l(3)7m62",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SG21",
                    "type": "synonym"
                },
                {
                    "name": "sti/Citron",
                    "type": "synonym"
                },
                {
                    "name": "sti",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI41-1",
            "evidence": [
                {
                    "id": "0070288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070288"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070288"
}