{
    "disease_id": "DOID:0060412",
    "recommended_name": {
        "id": "DOID:0060412",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060412",
        "name": "chromosome 1q41-q42 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060412",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060412",
            "name": "1q41-q42 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060412",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060412",
            "name": "1q41q42 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "chromosome 1q41-q42 deletion syndrome",
            "description": "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease."
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "1q41q42 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "Del(1)(q41q42)",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "chromosome 1q41-q42 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "chromosome 1q41-q42 deletion syndrome, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "monosomy 1q41-q42",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "monosomy 1q41q42",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "1q41-q42 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "deletion 1q41-q42",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060412"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060412",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060412",
            "categories": []
        },
        {
            "id": "MONDO:0012927",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QWN1-1",
            "uniprot_ac": "F1QWN1",
            "uniprot_id": "F1QWN1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-stimulating of p53 protein 2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tp53bp2b",
                    "type": "recommended"
                },
                {
                    "name": "si:dkeyp-34c12.2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QWN1-1",
            "evidence": [
                {
                    "id": "0060412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1R419-1",
            "uniprot_ac": "F1R419",
            "uniprot_id": "F1R419_DANRE",
            "refseq_ac": "NP_999979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-stimulating of p53 protein 2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-stimulating of p53 protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "aspp2a",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53 binding protein, 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tp53bp2a",
                    "type": "recommended"
                },
                {
                    "name": "tp53bp2a",
                    "type": "synonym"
                },
                {
                    "name": "tp53bp2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa09h08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb04e08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85720",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R419-1",
            "evidence": [
                {
                    "id": "0060412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CG79-1",
            "uniprot_ac": "Q8CG79",
            "uniprot_id": "ASPP2_MOUSE",
            "refseq_ac": "NP_775554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-stimulating of p53 protein 2",
                    "type": "recommended"
                },
                {
                    "name": "53BP2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-stimulating of p53 protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p53-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p53BP2",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53 binding protein, 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor p53-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp53bp2",
                    "type": "recommended"
                },
                {
                    "name": "Trp53bp2",
                    "type": "recommended"
                },
                {
                    "name": "53BP2",
                    "type": "synonym"
                },
                {
                    "name": "ASPP2",
                    "type": "synonym"
                },
                {
                    "name": "Aspp2",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R13A",
                    "type": "synonym"
                },
                {
                    "name": "Tp53bp2",
                    "type": "synonym"
                },
                {
                    "name": "Trp53bp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CG79-1",
            "evidence": [
                {
                    "id": "0060412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M5H6-1",
            "uniprot_ac": "F1M5H6",
            "uniprot_id": "F1M5H6_RAT",
            "refseq_ac": "NP_001414346",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor protein p53 binding protein, 2",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-stimulating of p53 protein 2",
                    "type": "synonym"
                },
                {
                    "name": "transformation related protein 53 binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp53bp2",
                    "type": "recommended"
                },
                {
                    "name": "Tp53bp2",
                    "type": "synonym"
                },
                {
                    "name": "Trp53bp2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M5H6-1",
            "evidence": [
                {
                    "id": "0060412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86BG1-1",
            "uniprot_ac": "Q86BG1",
            "uniprot_id": "Q86BG1_DROME",
            "refseq_ac": "NP_788423",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ASPP-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-repeat, SH3-domain and Proline-rich-region containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-repeat, SH3-domain, and Proline-rich-region containing protein, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "CG18375-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASPP",
                    "type": "recommended"
                },
                {
                    "name": "ASPP",
                    "type": "synonym"
                },
                {
                    "name": "CG18375",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18375",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18375",
                    "type": "synonym"
                },
                {
                    "name": "dASPP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86BG1-1",
            "evidence": [
                {
                    "id": "0060412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13625-1",
            "uniprot_ac": "Q13625",
            "uniprot_id": "ASPP2_HUMAN",
            "refseq_ac": "NP_001026855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-stimulating of p53 protein 2",
                    "type": "recommended"
                },
                {
                    "name": "53BP2",
                    "type": "synonym"
                },
                {
                    "name": "BCL2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Bbp",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-51",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-stimulating of p53 protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-stimulating protein of p53, 2",
                    "type": "synonym"
                },
                {
                    "name": "p53-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p53BP2",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-51",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor p53-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TP53BP2",
                    "type": "recommended"
                },
                {
                    "name": "53BP2",
                    "type": "synonym"
                },
                {
                    "name": "ASPP2",
                    "type": "synonym"
                },
                {
                    "name": "BBP",
                    "type": "synonym"
                },
                {
                    "name": "P53BP2",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R13A",
                    "type": "synonym"
                },
                {
                    "name": "TP53BP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13625-1",
            "evidence": [
                {
                    "id": "0060412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060412"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060412"
}