{
    "disease_id": "DOID:0061050",
    "recommended_name": {
        "id": "DOID:0061050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061050",
        "name": "autosomal dominant intellectual developmental disorder 60 with seizures",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0061050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061050",
            "name": "MRD60",
            "description": ""
        },
        {
            "id": "MONDO:0032823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032823",
            "name": "intellectual developmental disorder 60 with seizures",
            "description": ""
        },
        {
            "id": "MONDO:0032823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032823",
            "name": "MRD60",
            "description": ""
        },
        {
            "id": "MIM:618587",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618587",
            "name": "Intellectual developmental disorder, autosomal dominant 60, with seizures",
            "description": "Intellectual developmental disorder, autosomal dominant 60, with seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061050"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061050",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061050",
            "categories": []
        },
        {
            "id": "MONDO:0032823",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032823",
            "categories": []
        },
        {
            "id": "MIM:618587",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618587",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NWK2-1",
            "uniprot_ac": "Q6NWK2",
            "uniprot_id": "AP2MA_DANRE",
            "refseq_ac": "NP_997742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit mu-A",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit mu-1-A",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 complex subunit mu-A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 complex subunit mu-A",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu-2 chain A",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu-A chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 2 mu-A medium chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP50-A",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP50-A",
                    "type": "synonym"
                },
                {
                    "name": "Mu2-adaptin-A",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 50 kDa protein A",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2, mu1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2, mu 1 subunit, a",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 medium chain A",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 mu-A medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP50-A",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP50-A",
                    "type": "synonym"
                },
                {
                    "name": "mu2-adaptin-A",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 50 kDa protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ap2m1a",
                    "type": "recommended"
                },
                {
                    "name": "Ap2m1",
                    "type": "synonym"
                },
                {
                    "name": "ap2m1a",
                    "type": "synonym"
                },
                {
                    "name": "cb34",
                    "type": "synonym"
                },
                {
                    "name": "dpy-23",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb34",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-252f13.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa97a10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55711",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85653",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NWK2-1",
            "evidence": [
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZW98-1",
            "uniprot_ac": "Q7ZW98",
            "uniprot_id": "AP2MB_DANRE",
            "refseq_ac": "NP_957320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit mu-B",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit mu-1-B",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 complex subunit mu-B",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu-2 chain B",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu-B chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 2 mu-B medium chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP50-B",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP50-B",
                    "type": "synonym"
                },
                {
                    "name": "Mu2-adaptin-B",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 50 kDa protein B",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2, mu 1 subunit, b",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 medium chain B",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 mu-B medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP50-B",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP50-B",
                    "type": "synonym"
                },
                {
                    "name": "mu2-adaptin-B",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 50 kDa protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ap2m1b",
                    "type": "recommended"
                },
                {
                    "name": "ap2m1b",
                    "type": "synonym"
                },
                {
                    "name": "ap2m1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56643",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZW98-1",
            "evidence": [
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84091-1",
            "uniprot_ac": "P84091",
            "uniprot_id": "AP2M1_MOUSE",
            "refseq_ac": "NP_033809",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit mu isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu chain",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Mu2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2, mu1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-2, mu1",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-associated AP-2",
                    "type": "synonym"
                },
                {
                    "name": "mu2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap2m1",
                    "type": "recommended"
                },
                {
                    "name": "Ap2m1",
                    "type": "synonym"
                },
                {
                    "name": "Clapm1",
                    "type": "synonym"
                }
            ],
            "record_id": "P84091-1",
            "evidence": [
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96CW1-1",
            "uniprot_ac": "Q96CW1",
            "uniprot_id": "AP2M1_HUMAN",
            "refseq_ac": "NP_001020376",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit mu isoform b",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu 2 chain",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu chain",
                    "type": "synonym"
                },
                {
                    "name": "Adaptin-mu2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "HA2 50 kDA subunit",
                    "type": "synonym"
                },
                {
                    "name": "HA2 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "adaptin-mu2",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 2 mu 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "clathrin adaptor complex AP2, mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat adaptor protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-associated/assembly/adaptor protein, medium 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 50kDA protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP2M1",
                    "type": "recommended"
                },
                {
                    "name": "AP2M1",
                    "type": "synonym"
                },
                {
                    "name": "AP50",
                    "type": "synonym"
                },
                {
                    "name": "CLAPM1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0109",
                    "type": "synonym"
                },
                {
                    "name": "MRD60",
                    "type": "synonym"
                },
                {
                    "name": "mu2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96CW1-1",
            "evidence": [
                {
                    "id": "618587",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618587"
                },
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99186-1",
            "uniprot_ac": "Q99186",
            "uniprot_id": "AP2M_YEAST",
            "refseq_ac": "NP_014579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "recommended"
                },
                {
                    "name": "Adaptin medium chain APM4",
                    "type": "synonym"
                },
                {
                    "name": "Apm4p",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Mu2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APM4",
                    "type": "recommended"
                },
                {
                    "name": "AMP1",
                    "type": "synonym"
                },
                {
                    "name": "APM4",
                    "type": "synonym"
                },
                {
                    "name": "O1210",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99186-1",
            "evidence": [
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84092-1",
            "uniprot_ac": "P84092",
            "uniprot_id": "AP2M1_RAT",
            "refseq_ac": "NP_446289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "AP-2 mu chain",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "Mu2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2 subunit mu",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2, mu 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 2 mu medium chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP50",
                    "type": "synonym"
                },
                {
                    "name": "coat assembly protein complex 50 kD",
                    "type": "synonym"
                },
                {
                    "name": "mu2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 50 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap2m1",
                    "type": "recommended"
                },
                {
                    "name": "Ap2m1",
                    "type": "synonym"
                },
                {
                    "name": "Ap50",
                    "type": "synonym"
                },
                {
                    "name": "Clapm1",
                    "type": "synonym"
                },
                {
                    "name": "mu2",
                    "type": "synonym"
                }
            ],
            "record_id": "P84092-1",
            "evidence": [
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O62530-1",
            "uniprot_ac": "O62530",
            "uniprot_id": "O62530_DROME",
            "refseq_ac": "NP_001163686",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2mu-PC",
                    "type": "synonym"
                },
                {
                    "name": "AP-50",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex 2, mu subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex 2, mu subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex 2, mu subunit, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "CG7057-PC",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex 2, mu subunit, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex 2",
                    "type": "synonym"
                },
                {
                    "name": "clathrin AP-2 complex",
                    "type": "synonym"
                },
                {
                    "name": "mu2 medium chain of adaptin AP2",
                    "type": "synonym"
                },
                {
                    "name": "mu2-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP-2mu",
                    "type": "recommended"
                },
                {
                    "name": "AP-2mu",
                    "type": "synonym"
                },
                {
                    "name": "AP-50",
                    "type": "synonym"
                },
                {
                    "name": "AP2mu2",
                    "type": "synonym"
                },
                {
                    "name": "AP50",
                    "type": "synonym"
                },
                {
                    "name": "CG7057",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7057",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7057",
                    "type": "synonym"
                },
                {
                    "name": "Dmu2",
                    "type": "synonym"
                },
                {
                    "name": "MENE (3R)-D",
                    "type": "synonym"
                },
                {
                    "name": "MENE(3R)-D",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey50",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.104",
                    "type": "synonym"
                },
                {
                    "name": "apm4",
                    "type": "synonym"
                },
                {
                    "name": "cg7057",
                    "type": "synonym"
                },
                {
                    "name": "mu2-ada",
                    "type": "synonym"
                },
                {
                    "name": "mu2",
                    "type": "synonym"
                }
            ],
            "record_id": "O62530-1",
            "evidence": [
                {
                    "id": "0061050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061050"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061050"
}