{
    "disease_id": "DOID:0070063",
    "recommended_name": {
        "id": "DOID:0070063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070063",
        "name": "autosomal dominant intellectual developmental disorder 33",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070063",
            "name": "MRD33",
            "description": ""
        },
        {
            "id": "DOID:0070063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070063",
            "name": "autosomal dominant mental retardation 33",
            "description": ""
        },
        {
            "id": "DOID:0070063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070063",
            "name": "autosomal dominant non-syndromic intellectual disability 33",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "intellectual disability, autosomal dominant 33",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene."
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "DPP6 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "MRD33",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "autosomal dominant intellectual disability 33",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "intellectual disability, autosomal dominant 33",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "intellectual disability, autosomal dominant type 33",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "mental retardation, autosomal dominant type 33",
            "description": ""
        },
        {
            "id": "MONDO:0014580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "name": "mental retardation, autosomal dominant 33",
            "description": ""
        },
        {
            "id": "MIM:616311",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616311",
            "name": "Intellectual developmental disorder, autosomal dominant 33",
            "description": "Intellectual developmental disorder, autosomal dominant 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070063",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070063",
            "categories": []
        },
        {
            "id": "MONDO:0014580",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014580",
            "categories": []
        },
        {
            "id": "MIM:616311",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616311",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AP34-1",
            "uniprot_ac": "A0A8M3AP34",
            "uniprot_id": "A0A8M3AP34_DANRE",
            "refseq_ac": "XP_009295542",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "recommended"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpp6a",
                    "type": "recommended"
                },
                {
                    "name": "dpp6a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AP34-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NHZ0-1",
            "uniprot_ac": "A0A8M1NHZ0",
            "uniprot_id": "A0A8M1NHZ0_DANRE",
            "refseq_ac": "NP_001108594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dipeptidyl-peptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl-peptidase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpp6b",
                    "type": "recommended"
                },
                {
                    "name": "dpp6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NHZ0-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z218-1",
            "uniprot_ac": "Q9Z218",
            "uniprot_id": "DPP6_MOUSE",
            "refseq_ac": "NP_034205",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "recommended"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "synonym"
                },
                {
                    "name": "DPP VI",
                    "type": "synonym"
                },
                {
                    "name": "DPPX",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase IV-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidylpeptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "inversion, Chr 5, Harwell 6, proximal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpp6",
                    "type": "recommended"
                },
                {
                    "name": "B930011P16Rik",
                    "type": "synonym"
                },
                {
                    "name": "D5Buc3",
                    "type": "synonym"
                },
                {
                    "name": "D5Buc4",
                    "type": "synonym"
                },
                {
                    "name": "D5Buc5",
                    "type": "synonym"
                },
                {
                    "name": "DPP VI",
                    "type": "synonym"
                },
                {
                    "name": "Dpp-6",
                    "type": "synonym"
                },
                {
                    "name": "Dpp6",
                    "type": "synonym"
                },
                {
                    "name": "Gm1377",
                    "type": "synonym"
                },
                {
                    "name": "In(5)6H-p",
                    "type": "synonym"
                },
                {
                    "name": "Peplb",
                    "type": "synonym"
                },
                {
                    "name": "Rw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z218-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42658-1",
            "uniprot_ac": "P42658",
            "uniprot_id": "DPP6_HUMAN",
            "refseq_ac": "NP_570629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "recommended"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "synonym"
                },
                {
                    "name": "DPP VI",
                    "type": "synonym"
                },
                {
                    "name": "DPPX",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase IV-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase IV-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl-peptidase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPP6",
                    "type": "recommended"
                },
                {
                    "name": "DPL1",
                    "type": "synonym"
                },
                {
                    "name": "DPP6",
                    "type": "synonym"
                },
                {
                    "name": "DPPX",
                    "type": "synonym"
                },
                {
                    "name": "MRD33",
                    "type": "synonym"
                },
                {
                    "name": "VF2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42658-1",
            "evidence": [
                {
                    "id": "616311",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616311"
                },
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33894-1",
            "uniprot_ac": "P33894",
            "uniprot_id": "STE13_YEAST",
            "refseq_ac": "NP_014862",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dipeptidyl aminopeptidase A",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.-",
                    "type": "synonym"
                },
                {
                    "name": "DPAP A",
                    "type": "synonym"
                },
                {
                    "name": "Ste13p",
                    "type": "synonym"
                },
                {
                    "name": "YSCIV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE13",
                    "type": "recommended"
                },
                {
                    "name": "STE13",
                    "type": "synonym"
                },
                {
                    "name": "YCI1",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-9",
                    "type": "synonym"
                }
            ],
            "record_id": "P33894-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46101-1",
            "uniprot_ac": "P46101",
            "uniprot_id": "DPP6_RAT",
            "refseq_ac": "NP_074041",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "recommended"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "synonym"
                },
                {
                    "name": "DPP VI",
                    "type": "synonym"
                },
                {
                    "name": "DPPX",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase IV-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidylpeptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidylpeptidase VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpp6",
                    "type": "recommended"
                },
                {
                    "name": "DPP VI",
                    "type": "synonym"
                },
                {
                    "name": "Dpp6",
                    "type": "synonym"
                }
            ],
            "record_id": "P46101-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15304-1",
            "uniprot_ac": "P15304",
            "uniprot_id": "LIPS_RAT",
            "refseq_ac": "NP_036991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hormone-sensitive lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                },
                {
                    "name": "Retinyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase, hormone sensitive",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "retinyl ester hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipe",
                    "type": "recommended"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Lipe",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                }
            ],
            "record_id": "P15304-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2J9P4-1",
            "uniprot_ac": "X2J9P4",
            "uniprot_id": "X2J9P4_DROME",
            "refseq_ac": "NP_001285682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Venom dipeptidyl peptidase 4",
                    "type": "recommended"
                },
                {
                    "name": "CG11319-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dpp10-PB",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase 10, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpp10",
                    "type": "recommended"
                },
                {
                    "name": "CG11319",
                    "type": "synonym"
                },
                {
                    "name": "DPP10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11319",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11319",
                    "type": "synonym"
                },
                {
                    "name": "Dpp10",
                    "type": "synonym"
                }
            ],
            "record_id": "X2J9P4-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IR04-1",
            "uniprot_ac": "Q8IR04",
            "uniprot_id": "Q8IR04_DROME",
            "refseq_ac": "NP_728041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Venom dipeptidyl peptidase 4",
                    "type": "recommended"
                },
                {
                    "name": "CG45002-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:GH06235",
                    "type": "recommended"
                },
                {
                    "name": "CG34326",
                    "type": "recommended"
                },
                {
                    "name": "CG9059",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG45002",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH06235",
                    "type": "synonym"
                },
                {
                    "name": "CG34326",
                    "type": "synonym"
                },
                {
                    "name": "CG45002",
                    "type": "synonym"
                },
                {
                    "name": "CG9059",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45002",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45002",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IR04-1",
            "evidence": [
                {
                    "id": "0070063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070063"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070063"
}