{
    "disease_id": "DOID:0070037",
    "recommended_name": {
        "id": "DOID:0070037",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070037",
        "name": "autosomal dominant intellectual developmental disorder 7",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070037",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070037",
            "name": "MRD7",
            "description": ""
        },
        {
            "id": "DOID:0070037",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070037",
            "name": "autosomal dominant mental retardation 7",
            "description": ""
        },
        {
            "id": "DOID:0070037",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070037",
            "name": "DYRK1A syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070037",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070037",
            "name": "autosomal dominant non-syndromic intellectual disability 7",
            "description": ""
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "DYRK1A-related intellectual disability syndrome",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "MRD7",
            "description": ""
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "autosomal dominant intellectual disability 7",
            "description": ""
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "intellectual disability, autosomal dominant type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "mental retardation, autosomal dominant type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "intellectual disability, autosomal dominant 7",
            "description": ""
        },
        {
            "id": "MONDO:0013578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "name": "mental retardation, autosomal dominant 7",
            "description": ""
        },
        {
            "id": "MIM:614104",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614104",
            "name": "Intellectual developmental disorder, autosomal dominant 7",
            "description": "Intellectual developmental disorder, autosomal dominant 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070037"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070037",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070037",
            "categories": []
        },
        {
            "id": "MONDO:0013578",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013578",
            "categories": []
        },
        {
            "id": "MIM:614104",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614104",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B3P5-1",
            "uniprot_ac": "A0A8M2B3P5",
            "uniprot_id": "A0A8M2B3P5_DANRE",
            "refseq_ac": "NP_001334760",
            "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-(Y)-phosphorylation regulated kinase 1A, b",
                    "type": "synonym"
                },
                {
                    "name": "dual-specificity tyrosine-regulated kinase 1ab",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dyrk1ab",
                    "type": "recommended"
                },
                {
                    "name": "dyrk1ab",
                    "type": "synonym"
                },
                {
                    "name": "fi12h09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi12h09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi26g04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B3P5-1",
            "evidence": [
                {
                    "id": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61214-1",
            "uniprot_ac": "Q61214",
            "uniprot_id": "DYR1A_MOUSE",
            "refseq_ac": "NP_001106860",
            "glycoprotein": "no",
            "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 1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dual specificity YAK1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MNBH",
                    "type": "synonym"
                },
                {
                    "name": "MP86",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase minibrain homolog",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity YAK1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase minibrain homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dyrk1a",
                    "type": "recommended"
                },
                {
                    "name": "2310043O08Rik",
                    "type": "synonym"
                },
                {
                    "name": "D16Ertd272e",
                    "type": "synonym"
                },
                {
                    "name": "D16Ertd493e",
                    "type": "synonym"
                },
                {
                    "name": "Dyrk1a",
                    "type": "synonym"
                },
                {
                    "name": "Dyrk",
                    "type": "synonym"
                },
                {
                    "name": "Gm10783",
                    "type": "synonym"
                },
                {
                    "name": "Mnbh",
                    "type": "synonym"
                },
                {
                    "name": "Mp86",
                    "type": "synonym"
                },
                {
                    "name": "mmb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61214-1",
            "evidence": [
                {
                    "id": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13627-1",
            "uniprot_ac": "Q13627",
            "uniprot_id": "DYR1A_HUMAN",
            "refseq_ac": "NP_001334650",
            "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 1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dual specificity YAK1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "HP86",
                    "type": "synonym"
                },
                {
                    "name": "MNB/DYRK protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "MNBH",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase minibrain homolog",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity YAK1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hMNB",
                    "type": "synonym"
                },
                {
                    "name": "mnb protein kinase homolog hp86",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase minibrain homolog",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine kinase MNB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-specific protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYRK1A",
                    "type": "recommended"
                },
                {
                    "name": "DYRK1A",
                    "type": "synonym"
                },
                {
                    "name": "DYRK1",
                    "type": "synonym"
                },
                {
                    "name": "DYRK",
                    "type": "synonym"
                },
                {
                    "name": "HP86",
                    "type": "synonym"
                },
                {
                    "name": "MNBH",
                    "type": "synonym"
                },
                {
                    "name": "MNB",
                    "type": "synonym"
                },
                {
                    "name": "MRD7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13627-1",
            "evidence": [
                {
                    "id": "614104",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614104"
                },
                {
                    "id": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63470-1",
            "uniprot_ac": "Q63470",
            "uniprot_id": "DYR1A_RAT",
            "refseq_ac": "NP_036923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dual Specificity Yak1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "Dual specificity YAK1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MNBH",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase minibrain homolog",
                    "type": "synonym"
                },
                {
                    "name": "RP86",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1A",
                    "type": "synonym"
                },
                {
                    "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase minibrain homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dyrk1a",
                    "type": "recommended"
                },
                {
                    "name": "Dyrk1a",
                    "type": "synonym"
                },
                {
                    "name": "Dyrk",
                    "type": "synonym"
                },
                {
                    "name": "PSK47",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63470-1",
            "evidence": [
                {
                    "id": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70562-1",
            "uniprot_ac": "P70562",
            "uniprot_id": "BHA15_RAT",
            "refseq_ac": "NP_036995",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Class A basic helix-loop-helix protein 15",
                    "type": "recommended"
                },
                {
                    "name": "Basic helix-loop-helix transcription factor (bHlH)",
                    "type": "synonym"
                },
                {
                    "name": "Class B basic helix-loop-helix protein 8",
                    "type": "synonym"
                },
                {
                    "name": "MIST-1",
                    "type": "synonym"
                },
                {
                    "name": "Muscle, intestine and stomach expression 1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa15",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb8",
                    "type": "synonym"
                },
                {
                    "name": "basic helix-loop-helix domain containing, class B, 8",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 15",
                    "type": "synonym"
                },
                {
                    "name": "class B basic helix-loop-helix protein 8",
                    "type": "synonym"
                },
                {
                    "name": "muscle, intestine and stomach expression 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bhlha15",
                    "type": "recommended"
                },
                {
                    "name": "Bhlha15",
                    "type": "synonym"
                },
                {
                    "name": "Bhlhb8",
                    "type": "synonym"
                },
                {
                    "name": "Mist1",
                    "type": "synonym"
                },
                {
                    "name": "bHlH",
                    "type": "synonym"
                }
            ],
            "record_id": "P70562-1",
            "evidence": [
                {
                    "id": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        },
        {
            "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": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53634-1",
            "uniprot_ac": "P53634",
            "uniprot_id": "CATC_HUMAN",
            "refseq_ac": "NP_001107645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dipeptidyl peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.1",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin C",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin J",
                    "type": "synonym"
                },
                {
                    "name": "DPP-I",
                    "type": "synonym"
                },
                {
                    "name": "DPPI",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase I exclusion domain chain",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase I heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase I light chain",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin J",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase 1 isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl-peptidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSC",
                    "type": "recommended"
                },
                {
                    "name": "CPPI",
                    "type": "synonym"
                },
                {
                    "name": "CTSC",
                    "type": "synonym"
                },
                {
                    "name": "DPP-I",
                    "type": "synonym"
                },
                {
                    "name": "DPP1",
                    "type": "synonym"
                },
                {
                    "name": "DPPI",
                    "type": "synonym"
                },
                {
                    "name": "HMS",
                    "type": "synonym"
                },
                {
                    "name": "JPD",
                    "type": "synonym"
                },
                {
                    "name": "JP",
                    "type": "synonym"
                },
                {
                    "name": "PALS",
                    "type": "synonym"
                },
                {
                    "name": "PDON1",
                    "type": "synonym"
                },
                {
                    "name": "PLS",
                    "type": "synonym"
                }
            ],
            "record_id": "P53634-1",
            "evidence": [
                {
                    "id": "0070037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070037"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070037"
}