{
    "disease_id": "DOID:0060612",
    "recommended_name": {
        "id": "DOID:0060612",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060612",
        "name": "abdominal obesity-metabolic syndrome 3",
        "description": "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "name": "abdominal obesity-metabolic syndrome 3",
            "description": "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene."
        },
        {
            "id": "MONDO:0014352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "name": "DYRK1B metabolic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "name": "abdominal obesity-metabolic syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "name": "abdominal obesity-metabolic syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "name": "metabolic syndrome caused by mutation in DYRK1B",
            "description": ""
        },
        {
            "id": "MONDO:0014352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "name": "AOMS3",
            "description": ""
        },
        {
            "id": "MIM:615812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615812",
            "name": "Abdominal obesity-metabolic syndrome 3",
            "description": "Abdominal obesity-metabolic syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060612"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060612",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060612",
            "categories": []
        },
        {
            "id": "MONDO:0014352",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014352",
            "categories": []
        },
        {
            "id": "MIM:615812",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615812",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B533-1",
            "uniprot_ac": "A0A8M2B533",
            "uniprot_id": "A0A8M2B533_DANRE",
            "refseq_ac": "XP_005158271",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "dual-specificity kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dyrk1b",
                    "type": "recommended"
                },
                {
                    "name": "dyrk1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-225p5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B533-1",
            "evidence": [
                {
                    "id": "0060612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z188-1",
            "uniprot_ac": "Q9Z188",
            "uniprot_id": "DYR1B_MOUSE",
            "refseq_ac": "NP_001033046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform p69",
                    "type": "synonym"
                },
                {
                    "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dyrk1b",
                    "type": "recommended"
                },
                {
                    "name": "Dyrk1b",
                    "type": "synonym"
                },
                {
                    "name": "Mirk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z188-1",
            "evidence": [
                {
                    "id": "0060612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y463-1",
            "uniprot_ac": "Q9Y463",
            "uniprot_id": "DYR1B_HUMAN",
            "refseq_ac": "NP_004705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Minibrain-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "Mirk protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1B",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform p69",
                    "type": "synonym"
                },
                {
                    "name": "minibrain-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "mirk protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYRK1B",
                    "type": "recommended"
                },
                {
                    "name": "AOMS3",
                    "type": "synonym"
                },
                {
                    "name": "DYRK1B",
                    "type": "synonym"
                },
                {
                    "name": "MIRK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y463-1",
            "evidence": [
                {
                    "id": "615812",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615812"
                },
                {
                    "id": "0060612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZP97-1",
            "uniprot_ac": "A0A8I5ZP97",
            "uniprot_id": "A0A8I5ZP97_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "dual-specificity kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dyrk1b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZP97-1",
            "evidence": [
                {
                    "id": "0060612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88368-1",
            "uniprot_ac": "O88368",
            "uniprot_id": "MITF_RAT",
            "refseq_ac": "NP_001178018",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microphthalmia-associated transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "melanogenesis associated transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia-associated transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mitf",
                    "type": "recommended"
                },
                {
                    "name": "Mitf",
                    "type": "synonym"
                }
            ],
            "record_id": "O88368-1",
            "evidence": [
                {
                    "id": "0060612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49657-1",
            "uniprot_ac": "P49657",
            "uniprot_id": "MNB_DROME",
            "refseq_ac": "NP_001014750",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase minibrain",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "CG42273-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dual-specificity tyrosine phosphorylation-regulated kinase 1A",
                    "type": "synonym"
                },
                {
                    "name": "minibrain kinase",
                    "type": "synonym"
                },
                {
                    "name": "minibrain, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "minibrain",
                    "type": "synonym"
                },
                {
                    "name": "mnb-PG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mnb",
                    "type": "recommended"
                },
                {
                    "name": "CG42273",
                    "type": "synonym"
                },
                {
                    "name": "CG7826",
                    "type": "synonym"
                },
                {
                    "name": "CG7835",
                    "type": "synonym"
                },
                {
                    "name": "DYRK1A",
                    "type": "synonym"
                },
                {
                    "name": "DYRK1",
                    "type": "synonym"
                },
                {
                    "name": "Dm1",
                    "type": "synonym"
                },
                {
                    "name": "DmDyrk1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42273",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42273",
                    "type": "synonym"
                },
                {
                    "name": "Dyrk1A",
                    "type": "synonym"
                },
                {
                    "name": "Dyrk1a",
                    "type": "synonym"
                },
                {
                    "name": "Dyrk1",
                    "type": "synonym"
                },
                {
                    "name": "ME-IV",
                    "type": "synonym"
                },
                {
                    "name": "MNB",
                    "type": "synonym"
                },
                {
                    "name": "Minibrain",
                    "type": "synonym"
                },
                {
                    "name": "Mnb",
                    "type": "synonym"
                },
                {
                    "name": "min",
                    "type": "synonym"
                },
                {
                    "name": "mnb",
                    "type": "synonym"
                }
            ],
            "record_id": "P49657-1",
            "evidence": [
                {
                    "id": "0060612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060612"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060612"
}
