{
    "disease_id": "DOID:0051036",
    "recommended_name": {
        "id": "DOID:0051036",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051036",
        "name": "primary autosomal recessive microcephaly 25",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032694",
            "name": "microcephaly 25, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0032694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032694",
            "name": "MCPH25",
            "description": ""
        },
        {
            "id": "MIM:618351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618351",
            "name": "Microcephaly 25, primary, autosomal recessive",
            "description": "Microcephaly 25, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051036"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051036",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051036",
            "categories": []
        },
        {
            "id": "MONDO:0032694",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032694",
            "categories": []
        },
        {
            "id": "MIM:618351",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618351",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F240-1",
            "uniprot_ac": "E7F240",
            "uniprot_id": "TPC14_DANRE",
            "refseq_ac": "NP_001410740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 14",
                    "type": "recommended"
                },
                {
                    "name": "Microtubule-associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "microtubule associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 14",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trappc14",
                    "type": "recommended"
                },
                {
                    "name": "c7h7orf43",
                    "type": "synonym"
                },
                {
                    "name": "gb:dn856615",
                    "type": "synonym"
                },
                {
                    "name": "map11",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-3k24.5",
                    "type": "synonym"
                },
                {
                    "name": "trappc14",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F240-1",
            "evidence": [
                {
                    "id": "0051036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UTZ3-1",
            "uniprot_ac": "Q3UTZ3",
            "uniprot_id": "TPC14_MOUSE",
            "refseq_ac": "NP_694801",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 14",
                    "type": "recommended"
                },
                {
                    "name": "MAP11 short transcript",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "microtubule associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 14",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C7orf43 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc14",
                    "type": "recommended"
                },
                {
                    "name": "BC037034",
                    "type": "synonym"
                },
                {
                    "name": "Map11",
                    "type": "synonym"
                },
                {
                    "name": "Trappc14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UTZ3-1",
            "evidence": [
                {
                    "id": "0051036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVR3-1",
            "uniprot_ac": "Q8WVR3",
            "uniprot_id": "TPC14_HUMAN",
            "refseq_ac": "NP_060745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 14",
                    "type": "recommended"
                },
                {
                    "name": "Microtubule-associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "microtubule associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 14",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 14 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C7orf43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC14",
                    "type": "recommended"
                },
                {
                    "name": "C7orf43",
                    "type": "synonym"
                },
                {
                    "name": "MAP11",
                    "type": "synonym"
                },
                {
                    "name": "MCPH25",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVR3-1",
            "evidence": [
                {
                    "id": "618351",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618351"
                },
                {
                    "id": "0051036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KAX2-1",
            "uniprot_ac": "A0A0G2KAX2",
            "uniprot_id": "A0A0G2KAX2_RAT",
            "refseq_ac": "NP_001020140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 14",
                    "type": "synonym"
                },
                {
                    "name": "microtubule associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 14",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 14",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C7orf43 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc14",
                    "type": "recommended"
                },
                {
                    "name": "Map11",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305455",
                    "type": "synonym"
                },
                {
                    "name": "Trappc14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KAX2-1",
            "evidence": [
                {
                    "id": "0051036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051036"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051036"
}