{
    "disease_id": "DOID:0070066",
    "recommended_name": {
        "id": "DOID:0070066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070066",
        "name": "autosomal dominant intellectual developmental disorder 36",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41."
    },
    "synonyms": [
        {
            "id": "DOID:0070066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070066",
            "name": "MRD36",
            "description": ""
        },
        {
            "id": "DOID:0070066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070066",
            "name": "autosomal dominant mental retardation 36",
            "description": ""
        },
        {
            "id": "DOID:0070066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070066",
            "name": "autosomal dominant non-syndromic intellectual disability 36",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "Houge-Janssens syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "MRD36",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "autosomal dominant intellectual disability 36",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "intellectual disability, autosomal dominant type 36",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "mental retardation, autosomal dominant type 36",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "intellectual disability, autosomal dominant 36",
            "description": ""
        },
        {
            "id": "MONDO:0014605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "name": "mental retardation, autosomal dominant 36",
            "description": ""
        },
        {
            "id": "MIM:616362",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616362",
            "name": "Houge-Janssens syndrome 2",
            "description": "Houge-Janssens syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070066"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070066",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070066",
            "categories": []
        },
        {
            "id": "MONDO:0014605",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014605",
            "categories": []
        },
        {
            "id": "MIM:616362",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616362",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q76MZ3-1",
            "uniprot_ac": "Q76MZ3",
            "uniprot_id": "2AAA_MOUSE",
            "refseq_ac": "NP_058587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "PP2A subunit A isoform PR65-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit A isoform R1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PP2Aa",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase PP2A",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein phosphatase A subunit type 2A",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp2r1a",
                    "type": "recommended"
                },
                {
                    "name": "6330556D22Rik",
                    "type": "synonym"
                },
                {
                    "name": "PP2Aa",
                    "type": "synonym"
                },
                {
                    "name": "PP2A",
                    "type": "synonym"
                },
                {
                    "name": "PR65",
                    "type": "synonym"
                },
                {
                    "name": "Ppp2r1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q76MZ3-1",
            "evidence": [
                {
                    "id": "0070066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30153-1",
            "uniprot_ac": "P30153",
            "uniprot_id": "2AAA_HUMAN",
            "refseq_ac": "NP_055040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "Medium tumor antigen-associated 61 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit A isoform PR65-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit A isoform R1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PP2Aa",
                    "type": "synonym"
                },
                {
                    "name": "medium tumor antigen-associated 61 KDA protein",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2, regulatory subunit A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPP2R1A",
                    "type": "recommended"
                },
                {
                    "name": "HJS2",
                    "type": "synonym"
                },
                {
                    "name": "MRD36",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-Aalpha",
                    "type": "synonym"
                },
                {
                    "name": "PP2AAALPHA",
                    "type": "synonym"
                },
                {
                    "name": "PP2AA",
                    "type": "synonym"
                },
                {
                    "name": "PPP2R1A",
                    "type": "synonym"
                },
                {
                    "name": "PR65A",
                    "type": "synonym"
                }
            ],
            "record_id": "P30153-1",
            "evidence": [
                {
                    "id": "616362",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616362"
                },
                {
                    "id": "0070066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31383-1",
            "uniprot_ac": "P31383",
            "uniprot_id": "2AAA_YEAST",
            "refseq_ac": "NP_009386",
            "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": "Protein phosphatase PP2A regulatory subunit A",
                    "type": "recommended"
                },
                {
                    "name": "PR65",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A structural subunit TPD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPD3",
                    "type": "recommended"
                },
                {
                    "name": "FUN32",
                    "type": "synonym"
                },
                {
                    "name": "TPD3",
                    "type": "synonym"
                }
            ],
            "record_id": "P31383-1",
            "evidence": [
                {
                    "id": "0070066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI34-1",
            "uniprot_ac": "Q5XI34",
            "uniprot_id": "Q5XI34_RAT",
            "refseq_ac": "NP_476481",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase 2 scaffold subunit A alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2, regulatory subunit A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp2r1a",
                    "type": "recommended"
                },
                {
                    "name": "PR65",
                    "type": "synonym"
                },
                {
                    "name": "Ppp2r1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI34-1",
            "evidence": [
                {
                    "id": "0070066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36179-1",
            "uniprot_ac": "P36179",
            "uniprot_id": "2AAA_DROME",
            "refseq_ac": "NP_001027225",
            "glycoprotein": "no",
            "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 phosphatase PP2A 65 kDa regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "65 kDa regulatory subunit of protein phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "CG17291-PC",
                    "type": "synonym"
                },
                {
                    "name": "PP2A 65kD subunit A",
                    "type": "synonym"
                },
                {
                    "name": "PR65",
                    "type": "synonym"
                },
                {
                    "name": "Pp2A-29B-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase PP2A regulatory subunit A",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A at 29B, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A at 29B",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphate 2A",
                    "type": "synonym"
                },
                {
                    "name": "regulatory subunit A of type 2A protein phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pp2A-29B",
                    "type": "recommended"
                },
                {
                    "name": "29B",
                    "type": "synonym"
                },
                {
                    "name": "A/PR65",
                    "type": "synonym"
                },
                {
                    "name": "CG13383",
                    "type": "synonym"
                },
                {
                    "name": "CG17291",
                    "type": "synonym"
                },
                {
                    "name": "CG33297",
                    "type": "synonym"
                },
                {
                    "name": "DPR65",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17291",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17291",
                    "type": "synonym"
                },
                {
                    "name": "PP2A 29B",
                    "type": "synonym"
                },
                {
                    "name": "PP2A A",
                    "type": "synonym"
                },
                {
                    "name": "PP2A at 29B",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-29B",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-A",
                    "type": "synonym"
                },
                {
                    "name": "PP2A[A]",
                    "type": "synonym"
                },
                {
                    "name": "PP2A",
                    "type": "synonym"
                },
                {
                    "name": "PR65",
                    "type": "synonym"
                },
                {
                    "name": "Pp2A-29B",
                    "type": "synonym"
                },
                {
                    "name": "Pp2A29B",
                    "type": "synonym"
                },
                {
                    "name": "Pp2A",
                    "type": "synonym"
                },
                {
                    "name": "dPP2A A",
                    "type": "synonym"
                },
                {
                    "name": "dPP2A",
                    "type": "synonym"
                },
                {
                    "name": "pp2A-29B",
                    "type": "synonym"
                },
                {
                    "name": "pp2a-29b",
                    "type": "synonym"
                }
            ],
            "record_id": "P36179-1",
            "evidence": [
                {
                    "id": "0070066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070066"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070066"
}