{
    "disease_id": "DOID:0112231",
    "recommended_name": {
        "id": "DOID:0112231",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112231",
        "name": "lissencephaly 7 with cerebellar hypoplasia",
        "description": "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112231",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112231",
            "name": "LIS7",
            "description": ""
        },
        {
            "id": "MONDO:0014596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014596",
            "name": "lissencephaly 7 with cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014596",
            "name": "lissencephaly 7 with cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014596",
            "name": "LIS7",
            "description": ""
        },
        {
            "id": "MIM:616342",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616342",
            "name": "Lissencephaly 7, with cerebellar hypoplasia",
            "description": "Lissencephaly 7, with cerebellar hypoplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112231",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112231",
            "categories": []
        },
        {
            "id": "MONDO:0014596",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014596",
            "categories": []
        },
        {
            "id": "MIM:616342",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616342",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P48609-1",
            "uniprot_ac": "P48609",
            "uniprot_id": "CDK5_DROME",
            "refseq_ac": "NP_477080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 5 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG8203-PA; Cdk5-PA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG8203",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cdk5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cdk5; CDK5; CG8203; DmCdk5; Dmel\\CG8203",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112231",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49615-1",
            "uniprot_ac": "P49615",
            "uniprot_id": "CDK5_MOUSE",
            "refseq_ac": "NP_031694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent-like kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PSSALRE",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TPKII catalytic subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tau protein kinase II catalytic subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 5; TPKII catalytic subunit; serine/threonine-protein kinase PSSALRE; tau protein kinase II catalytic subunit; CR6 protein kinase; cyclin-dependent-like kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cdk5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Crk6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Crk6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PSSALRE",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112231",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17157-1",
            "uniprot_ac": "P17157",
            "uniprot_id": "PHO85_YEAST",
            "refseq_ac": "NP_015294",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent protein kinase PHO85",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Negative regulator of the PHO system",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PHO85",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent serine/threonine-protein kinase PHO85",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHO85",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "LDB15",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "P7102.18A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PHO85",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SSG3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112231",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00535-1",
            "uniprot_ac": "Q00535",
            "uniprot_id": "CDK5_HUMAN",
            "refseq_ac": "NP_001157882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent-like kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PSSALRE",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TPKII catalytic subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tau protein kinase II catalytic subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 5; protein kinase CDK5 splicing; cyclin-dependent-like kinase 5; TPKII catalytic subunit; serine/threonine-protein kinase PSSALRE; tau protein kinase II catalytic subunit; epididymis secretory sperm binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 5 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CDK5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CDKN5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LIS7; PSSALRE",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PSSALRE",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112231",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112231"
                },
                {
                    "id": "616342",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DE44-1",
            "uniprot_ac": "Q9DE44",
            "uniprot_id": "Q9DE44_DANRE",
            "refseq_ac": "NP_571794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division protein kinase 5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cyclin-dependent kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent protein kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdk5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cdk5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101604",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101604",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112231",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03114-1",
            "uniprot_ac": "Q03114",
            "uniprot_id": "CDK5_RAT",
            "refseq_ac": "NP_543161",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent-like kinase 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PSSALRE",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TPKII catalytic subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tau protein kinase II catalytic subunit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 5; TPKII catalytic subunit; serine/threonine-protein kinase PSSALRE; tau protein kinase II catalytic subunit; cyclin-dependent-like kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cdk5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PSSALRE",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112231",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112231"
}