{
    "disease_id": "DOID:0070280",
    "recommended_name": {
        "id": "DOID:0070280",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070280",
        "name": "primary autosomal recessive microcephaly 5",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070280",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070280",
            "name": "MCPH5",
            "description": ""
        },
        {
            "id": "MONDO:0012106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012106",
            "name": "microcephaly 5, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene."
        },
        {
            "id": "MONDO:0012106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012106",
            "name": "ASPM autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012106",
            "name": "autosomal recessive primary microcephaly caused by mutation in ASPM",
            "description": ""
        },
        {
            "id": "MONDO:0012106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012106",
            "name": "microcephaly 5, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012106",
            "name": "MCPH5",
            "description": ""
        },
        {
            "id": "MIM:608716",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608716",
            "name": "Microcephaly 5, primary, autosomal recessive",
            "description": "Microcephaly 5, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070280"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070280",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070280",
            "categories": []
        },
        {
            "id": "MONDO:0012106",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012106",
            "categories": []
        },
        {
            "id": "MIM:608716",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608716",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B8W4-1",
            "uniprot_ac": "A0A8M2B8W4",
            "uniprot_id": "A0A8M2B8W4_DANRE",
            "refseq_ac": "XP_005161794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Abnormal spindle-like microcephaly-associated protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle-like microcephaly-associated protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aspm",
                    "type": "recommended"
                },
                {
                    "name": "aspm",
                    "type": "synonym"
                },
                {
                    "name": "fc13b04",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-114d20.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc13b04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B8W4-1",
            "evidence": [
                {
                    "id": "0070280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CJ27-1",
            "uniprot_ac": "Q8CJ27",
            "uniprot_id": "ASPM_MOUSE",
            "refseq_ac": "NP_033921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Abnormal spindle-like microcephaly-associated protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Calmodulin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-binding protein Sha1",
                    "type": "synonym"
                },
                {
                    "name": "Spindle and hydroxyurea checkpoint abnormal protein",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle-like microcephaly-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "asp (abnormal spindle)-like, microcephaly associated",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-binding protein Sha1",
                    "type": "synonym"
                },
                {
                    "name": "spindle and hydroxyurea checkpoint abnormal protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aspm",
                    "type": "recommended"
                },
                {
                    "name": "Aspm",
                    "type": "synonym"
                },
                {
                    "name": "Calmbp1",
                    "type": "synonym"
                },
                {
                    "name": "D330028K02Rik",
                    "type": "synonym"
                },
                {
                    "name": "MCPH5",
                    "type": "synonym"
                },
                {
                    "name": "Sha1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CJ27-1",
            "evidence": [
                {
                    "id": "0070280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZT6-1",
            "uniprot_ac": "Q8IZT6",
            "uniprot_id": "ASPM_HUMAN",
            "refseq_ac": "NP_001193775",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Abnormal spindle-like microcephaly-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "Abnormal spindle protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Asp homolog",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle microtubule assembly",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle-like microcephaly-associated protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle-like microcephaly-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "asp (abnormal spindle) homolog, microcephaly associated",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASPM",
                    "type": "recommended"
                },
                {
                    "name": "ASPM",
                    "type": "synonym"
                },
                {
                    "name": "ASP",
                    "type": "synonym"
                },
                {
                    "name": "Calmbp1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZT6-1",
            "evidence": [
                {
                    "id": "608716",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608716"
                },
                {
                    "id": "0070280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZQ1-1",
            "uniprot_ac": "D3ZZQ1",
            "uniprot_id": "D3ZZQ1_RAT",
            "refseq_ac": "NP_001099425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Assembly factor for spindle microtubules",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle microtubule assembly",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle-like microcephaly-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "asp (abnormal spindle) homolog, microcephaly associated",
                    "type": "synonym"
                },
                {
                    "name": "asp (abnormal spindle)-like, microcephaly associated",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aspm",
                    "type": "recommended"
                },
                {
                    "name": "Aspm",
                    "type": "synonym"
                },
                {
                    "name": "Calmbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZQ1-1",
            "evidence": [
                {
                    "id": "0070280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC45-1",
            "uniprot_ac": "Q9VC45",
            "uniprot_id": "ASP_DROME",
            "refseq_ac": "NP_524488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein abnormal spindle",
                    "type": "recommended"
                },
                {
                    "name": "CG6875-PA",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle protein",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindles",
                    "type": "synonym"
                },
                {
                    "name": "abnormal spindle",
                    "type": "synonym"
                },
                {
                    "name": "asp-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "asp",
                    "type": "recommended"
                },
                {
                    "name": "ASP",
                    "type": "synonym"
                },
                {
                    "name": "Asp",
                    "type": "synonym"
                },
                {
                    "name": "CG6875",
                    "type": "synonym"
                },
                {
                    "name": "Dm Asp",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6875",
                    "type": "synonym"
                },
                {
                    "name": "anon-96Aa",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.279",
                    "type": "synonym"
                },
                {
                    "name": "asp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC45-1",
            "evidence": [
                {
                    "id": "0070280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070280"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070280"
}