{
    "disease_id": "DOID:0070065",
    "recommended_name": {
        "id": "DOID:0070065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070065",
        "name": "autosomal dominant intellectual developmental disorder 35",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070065",
            "name": "MRD35",
            "description": ""
        },
        {
            "id": "DOID:0070065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070065",
            "name": "autosomal dominant mental retardation 35",
            "description": ""
        },
        {
            "id": "DOID:0070065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070065",
            "name": "autosomal dominant non-syndromic intellectual disability 35",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "Houge-Janssens syndrome 1",
            "description": "An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1."
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "MRD35",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "autosomal dominant intellectual disability 35",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "intellectual disability, autosomal dominant type 35",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "mental retardation, autosomal dominant type 35",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "intellectual disability, autosomal dominant 35",
            "description": ""
        },
        {
            "id": "MONDO:0014602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "name": "mental retardation, autosomal dominant 35",
            "description": ""
        },
        {
            "id": "MIM:616355",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616355",
            "name": "Houge-Janssens syndrome 1",
            "description": "Houge-Janssens syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070065"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070065",
            "categories": []
        },
        {
            "id": "MONDO:0014602",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014602",
            "categories": []
        },
        {
            "id": "MIM:616355",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616355",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14738-1",
            "uniprot_ac": "Q14738",
            "uniprot_id": "2A5D_HUMAN",
            "refseq_ac": "NP_001257405",
            "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 56 kDa regulatory subunit delta isoform",
                    "type": "recommended"
                },
                {
                    "name": "PP2A B subunit isoform B'-delta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A B subunit isoform B56-delta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A B subunit isoform PR61-delta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A B subunit isoform R5-delta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPP2R5D",
                    "type": "recommended"
                },
                {
                    "name": "B56D",
                    "type": "synonym"
                },
                {
                    "name": "B56delta",
                    "type": "synonym"
                },
                {
                    "name": "HJS1",
                    "type": "synonym"
                },
                {
                    "name": "MRD35",
                    "type": "synonym"
                },
                {
                    "name": "PPP2R5D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14738-1",
            "evidence": [
                {
                    "id": "616355",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616355"
                },
                {
                    "id": "0070065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38903-1",
            "uniprot_ac": "P38903",
            "uniprot_id": "2A5D_YEAST",
            "refseq_ac": "NP_014657",
            "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": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform",
                    "type": "recommended"
                },
                {
                    "name": "PP2A, B subunit, B' delta isoform",
                    "type": "synonym"
                },
                {
                    "name": "Protein RTS1",
                    "type": "synonym"
                },
                {
                    "name": "Protein SCS1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A regulatory subunit RTS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RTS1",
                    "type": "recommended"
                },
                {
                    "name": "OR26.04",
                    "type": "synonym"
                },
                {
                    "name": "RTS1",
                    "type": "synonym"
                },
                {
                    "name": "SCS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38903-1",
            "evidence": [
                {
                    "id": "0070065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A6K6-1",
            "uniprot_ac": "A0A8I6A6K6",
            "uniprot_id": "A0A8I6A6K6_RAT",
            "refseq_ac": "XP_001062510",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp2r5d",
                    "type": "recommended"
                },
                {
                    "name": "Ppp2r5d",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A6K6-1",
            "evidence": [
                {
                    "id": "0070065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IN89-1",
            "uniprot_ac": "Q8IN89",
            "uniprot_id": "Q8IN89_DROME",
            "refseq_ac": "NP_732295",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7913-PB",
                    "type": "synonym"
                },
                {
                    "name": "PP2A B' regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "PP2A B' subunit",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-B'",
                    "type": "synonym"
                },
                {
                    "name": "Well-rounded, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A B'",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A regulatory B subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A-B'",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A",
                    "type": "synonym"
                },
                {
                    "name": "regulatory B' subunit of PP2A",
                    "type": "synonym"
                },
                {
                    "name": "well rounded",
                    "type": "synonym"
                },
                {
                    "name": "well-rounded, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "wrd-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wrd",
                    "type": "recommended"
                },
                {
                    "name": "B'/PR61",
                    "type": "synonym"
                },
                {
                    "name": "B'",
                    "type": "synonym"
                },
                {
                    "name": "B56-1",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM05554",
                    "type": "synonym"
                },
                {
                    "name": "CG 7913",
                    "type": "synonym"
                },
                {
                    "name": "CG7901",
                    "type": "synonym"
                },
                {
                    "name": "CG7913",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7913",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7913",
                    "type": "synonym"
                },
                {
                    "name": "PP2A B'",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-B'",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-B",
                    "type": "synonym"
                },
                {
                    "name": "PP2A[B'-1]",
                    "type": "synonym"
                },
                {
                    "name": "PP2A",
                    "type": "synonym"
                },
                {
                    "name": "PR61",
                    "type": "synonym"
                },
                {
                    "name": "Wrd",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.420",
                    "type": "synonym"
                },
                {
                    "name": "dB56-1",
                    "type": "synonym"
                },
                {
                    "name": "dPP2A-B56-1",
                    "type": "synonym"
                },
                {
                    "name": "dPP2A",
                    "type": "synonym"
                },
                {
                    "name": "i234",
                    "type": "synonym"
                },
                {
                    "name": "pp2A-B'",
                    "type": "synonym"
                },
                {
                    "name": "wrd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IN89-1",
            "evidence": [
                {
                    "id": "0070065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070065"
}