{
    "disease_id": "DOID:0081234",
    "recommended_name": {
        "id": "DOID:0081234",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081234",
        "name": "autosomal recessive intellectual developmental disorder 75",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0030785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030785",
            "name": "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0030785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030785",
            "name": "MRT75",
            "description": ""
        },
        {
            "id": "MONDO:0030785",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030785",
            "name": "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly",
            "description": ""
        },
        {
            "id": "MIM:619827",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619827",
            "name": "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly",
            "description": "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081234"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081234",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081234",
            "categories": []
        },
        {
            "id": "MONDO:0030785",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030785",
            "categories": []
        },
        {
            "id": "MIM:619827",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619827",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IWL1-1",
            "uniprot_ac": "A0AC58IWL1",
            "uniprot_id": "A0AC58IWL1_DANRE",
            "refseq_ac": "XP_073798617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P53-induced death domain-containing protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced death domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pidd1",
                    "type": "recommended"
                },
                {
                    "name": "pidd1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IWL1-1",
            "evidence": [
                {
                    "id": "0081234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERV7-1",
            "uniprot_ac": "Q9ERV7",
            "uniprot_id": "PIDD1_MOUSE",
            "refseq_ac": "NP_073145",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53-induced death domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat and death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich and death domain containing",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat and death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "p53 protein induced, with death domain",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced death domain-containing protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced death domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced protein with a death domain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pidd1",
                    "type": "recommended"
                },
                {
                    "name": "1200011D09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lrdd",
                    "type": "synonym"
                },
                {
                    "name": "Pidd1",
                    "type": "synonym"
                },
                {
                    "name": "Pidd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERV7-1",
            "evidence": [
                {
                    "id": "0081234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HB75-1",
            "uniprot_ac": "Q9HB75",
            "uniprot_id": "PIDD1_HUMAN",
            "refseq_ac": "NP_665893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53-induced death domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat and death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat and death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and death domain containing",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced death domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced death domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced protein with a death domain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIDD1",
                    "type": "recommended"
                },
                {
                    "name": "LRDD",
                    "type": "synonym"
                },
                {
                    "name": "MRT75",
                    "type": "synonym"
                },
                {
                    "name": "PIDD1",
                    "type": "synonym"
                },
                {
                    "name": "PIDD",
                    "type": "synonym"
                },
                {
                    "name": "altPIDD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HB75-1",
            "evidence": [
                {
                    "id": "619827",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619827"
                },
                {
                    "id": "0081234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R797-1",
            "uniprot_ac": "M0R797",
            "uniprot_id": "M0R797_RAT",
            "refseq_ac": "NP_001099788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53-induced death domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat and death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and death domain containing",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced death domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced protein with a death domain-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pidd1",
                    "type": "recommended"
                },
                {
                    "name": "Lrdd",
                    "type": "synonym"
                },
                {
                    "name": "Pidd1",
                    "type": "synonym"
                },
                {
                    "name": "Pidd",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R797-1",
            "evidence": [
                {
                    "id": "0081234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081234"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081234"
}