{
    "disease_id": "DOID:0061141",
    "recommended_name": {
        "id": "DOID:0061141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061141",
        "name": "complex cortical dysplasia with other brain malformations 12",
        "description": "A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0061141",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061141",
            "name": "CDCBM12",
            "description": ""
        },
        {
            "id": "MONDO:0957217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957217",
            "name": "cortical dysplasia, complex, with other brain malformations 12",
            "description": ""
        },
        {
            "id": "MIM:620316",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620316",
            "name": "Cortical dysplasia, complex, with other brain malformations 12",
            "description": "Cortical dysplasia, complex, with other brain malformations 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061141"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061141",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061141",
            "categories": []
        },
        {
            "id": "MONDO:0957217",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957217",
            "categories": []
        },
        {
            "id": "MIM:620316",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620316",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58I8C7-1",
            "uniprot_ac": "A0AC58I8C7",
            "uniprot_id": "A0AC58I8C7_DANRE",
            "refseq_ac": "XP_073790504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-regulated spectrin-associated protein 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-regulated spectrin-associated protein 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "camsap1a",
                    "type": "recommended"
                },
                {
                    "name": "camsap1a",
                    "type": "synonym"
                },
                {
                    "name": "camsap1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I8C7-1",
            "evidence": [
                {
                    "id": "0061141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5WUN7-1",
            "uniprot_ac": "A5WUN7",
            "uniprot_id": "CAM1B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-regulated spectrin-associated protein 1-B",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "camsap1b",
                    "type": "recommended"
                },
                {
                    "name": "camsap1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-157g20.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WUN7-1",
            "evidence": [
                {
                    "id": "0061141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AHC3-1",
            "uniprot_ac": "A2AHC3",
            "uniprot_id": "CAMP1_MOUSE",
            "refseq_ac": "NP_001263288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-regulated spectrin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-regulated spectrin-associated protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camsap1",
                    "type": "recommended"
                },
                {
                    "name": "9530003A05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Camsap1",
                    "type": "synonym"
                },
                {
                    "name": "PRO2405",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AHC3-1",
            "evidence": [
                {
                    "id": "0061141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T5Y3-1",
            "uniprot_ac": "Q5T5Y3",
            "uniprot_id": "CAMP1_HUMAN",
            "refseq_ac": "NP_056262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-regulated spectrin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-regulated spectrin-associated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAMSAP1",
                    "type": "recommended"
                },
                {
                    "name": "CAMSAP1",
                    "type": "synonym"
                },
                {
                    "name": "CDCBM12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T5Y3-1",
            "evidence": [
                {
                    "id": "620316",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620316"
                },
                {
                    "id": "0061141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8E6-1",
            "uniprot_ac": "D3Z8E6",
            "uniprot_id": "CAMP1_RAT",
            "refseq_ac": "NP_001162021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-regulated spectrin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-regulated spectrin-associated protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camsap1",
                    "type": "recommended"
                },
                {
                    "name": "Camsap1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565022",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8E6-1",
            "evidence": [
                {
                    "id": "0061141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAU8-1",
            "uniprot_ac": "A1ZAU8",
            "uniprot_id": "PTRO_DROME",
            "refseq_ac": "NP_788398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Patronin",
                    "type": "recommended"
                },
                {
                    "name": "CG33130-PA",
                    "type": "synonym"
                },
                {
                    "name": "Patronin-PA",
                    "type": "synonym"
                },
                {
                    "name": "Short spindle protein 4",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k07433",
                    "type": "synonym"
                },
                {
                    "name": "patronin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "patronin",
                    "type": "synonym"
                },
                {
                    "name": "short spindle 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Patronin",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD17191",
                    "type": "synonym"
                },
                {
                    "name": "CG18459",
                    "type": "synonym"
                },
                {
                    "name": "CG18460",
                    "type": "synonym"
                },
                {
                    "name": "CG18462",
                    "type": "synonym"
                },
                {
                    "name": "CG30102",
                    "type": "synonym"
                },
                {
                    "name": "CG33130",
                    "type": "synonym"
                },
                {
                    "name": "CG6516",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33130",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33130",
                    "type": "synonym"
                },
                {
                    "name": "Patronin",
                    "type": "synonym"
                },
                {
                    "name": "Patr",
                    "type": "synonym"
                },
                {
                    "name": "Ssp4",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k07433",
                    "type": "synonym"
                },
                {
                    "name": "patronin",
                    "type": "synonym"
                },
                {
                    "name": "ptrn",
                    "type": "synonym"
                },
                {
                    "name": "ssp4",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAU8-1",
            "evidence": [
                {
                    "id": "0061141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061141"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061141"
}