{
    "disease_id": "DOID:0060243",
    "recommended_name": {
        "id": "DOID:0060243",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060243",
        "name": "stuttering",
        "description": "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech."
    },
    "synonyms": [
        {
            "id": "DOID:0060243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060243",
            "name": "familial persistent stuttering",
            "description": ""
        },
        {
            "id": "DOID:0060243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060243",
            "name": "stammering",
            "description": ""
        },
        {
            "id": "MONDO:0008483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008483",
            "name": "stuttering, familial persistent, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008483",
            "name": "STUT1",
            "description": ""
        },
        {
            "id": "MONDO:0008483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008483",
            "name": "stuttering, familial persistent, 1",
            "description": ""
        },
        {
            "id": "MONDO:0012232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012232",
            "name": "stuttering, familial persistent, 2",
            "description": ""
        },
        {
            "id": "MONDO:0012232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012232",
            "name": "STUT2",
            "description": ""
        },
        {
            "id": "MONDO:0012232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012232",
            "name": "stuttering, familial persistent, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013841",
            "name": "stuttering, familial persistent, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013841",
            "name": "STUT3",
            "description": ""
        },
        {
            "id": "MONDO:0013841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013841",
            "name": "stuttering, familial persistent, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013844",
            "name": "stuttering, familial persistent, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013844",
            "name": "STUT4",
            "description": ""
        },
        {
            "id": "MONDO:0013844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013844",
            "name": "stuttering, familial persistent, 4",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/184450",
            "name": "Stuttering, familial persistent 1",
            "description": "Stuttering, familial persistent 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060243"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060243",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060243",
            "categories": []
        },
        {
            "id": "MONDO:0008483",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008483",
            "categories": []
        },
        {
            "id": "MONDO:0012232",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012232",
            "categories": []
        },
        {
            "id": "MONDO:0013841",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013841",
            "categories": []
        },
        {
            "id": "MONDO:0013844",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013844",
            "categories": []
        },
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            "id": "MIM:184450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/184450",
            "categories": []
        }
    ],
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            "uniprot_canonical_ac": "A0A0R4IQI7-1",
            "uniprot_ac": "A0A0R4IQI7",
            "uniprot_id": "A0A0R4IQI7_DANRE",
            "refseq_ac": "XP_699042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 complex subunit epsilon-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ap4e1",
                    "type": "recommended"
                },
                {
                    "name": "ap4e1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IQI7-1",
            "evidence": [
                {
                    "id": "0060243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80V94-1",
            "uniprot_ac": "Q80V94",
            "uniprot_id": "AP4E1_MOUSE",
            "refseq_ac": "NP_780759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "AP-4 complex subunit epsilon-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adapter complex subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 adaptor complex subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Epsilon subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Epsilon-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4 subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "epsilon subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4e1",
                    "type": "recommended"
                },
                {
                    "name": "2310033A20Rik",
                    "type": "synonym"
                },
                {
                    "name": "9930028M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ap4e1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPM8-1",
            "uniprot_ac": "Q9UPM8",
            "uniprot_id": "AP4E1_HUMAN",
            "refseq_ac": "NP_001239056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit epsilon-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adaptor complex subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit epsilon-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Epsilon subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Epsilon-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 4 epsilon 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4 epsilon",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP4E1",
                    "type": "recommended"
                },
                {
                    "name": "AP4E1",
                    "type": "synonym"
                },
                {
                    "name": "CPSQ4",
                    "type": "synonym"
                },
                {
                    "name": "SPG51",
                    "type": "synonym"
                },
                {
                    "name": "STUT1",
                    "type": "synonym"
                }
            ],
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                    "id": "184450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/184450"
                },
                {
                    "id": "0060243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M9P9-1",
            "uniprot_ac": "A0ABK0M9P9",
            "uniprot_id": "A0ABK0M9P9_RAT",
            "refseq_ac": "NP_001178671",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 complex subunit epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4, epsilon 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4, epsilon 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4e1",
                    "type": "recommended"
                },
                {
                    "name": "Ap4e1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562199",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M9P9-1",
            "evidence": [
                {
                    "id": "0060243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060243"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060243"
}