{
    "disease_id": "DOID:0060388",
    "recommended_name": {
        "id": "DOID:0060388",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060388",
        "name": "chromosomal deletion syndrome",
        "description": "A chromosomal disease that has_material_basis_in partial deletion of chromosomes."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050460",
            "label": "Wolf-Hirschhorn syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060352",
            "label": "Kleefstra syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060389",
            "label": "chromosome 10q23 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060393",
            "label": "chromosome 15q11.2 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060394",
            "label": "chromosome 15q13.3 microdeletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060395",
            "label": "chromosome 15q24 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060398",
            "label": "chromosome 16p11.2 deletion syndrome, 220-kb",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060399",
            "label": "chromosome 16p12.1 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060404",
            "label": "chromosome 17q12 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060409",
            "label": "NFIA-related disorder",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060410",
            "label": "chromosome 1p36 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060411",
            "label": "chromosome 1q21.1 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060412",
            "label": "chromosome 1q41-q42 deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060413",
            "label": "chromosome 22q11.2 deletion syndrome, distal",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060419",
            "label": "chromosome 3q29 microdeletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060428",
            "label": "SATB2-associated syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060732",
            "label": "chromosome 9p deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060768",
            "label": "Smith-Magenis syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060858",
            "label": "hypotonia-cystinuria syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060878",
            "label": "hypoparathyroidism-deafness-renal disease syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070270",
            "label": "hereditary nonpolyposis colorectal cancer type 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070515",
            "label": "chromosome 16p11.2 deletion syndrome, 593-kb",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080354",
            "label": "Phelan-McDermid syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090016",
            "label": "chromosome 5q deletion syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111687",
            "label": "Potocki-Shaffer syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111723",
            "label": "Jacobsen Syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111771",
            "label": "46,XY sex reversal 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111775",
            "label": "46,XY sex reversal 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111860",
            "label": "AMME complex",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:11198",
            "label": "DiGeorge syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:12583",
            "label": "velocardiofacial syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14515",
            "label": "WAGR syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14699",
            "label": "thrombocytopenia-absent radius syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:1928",
            "label": "Williams-Beuren syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:1933",
            "label": "Rubinstein-Taybi syndrome",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060412",
        "DOID:0060768",
        "DOID:0060393",
        "DOID:14515",
        "DOID:0060732",
        "DOID:0060399",
        "DOID:0111771",
        "DOID:0111860",
        "DOID:0060388",
        "DOID:14699",
        "DOID:0060409",
        "DOID:0060419",
        "DOID:0111687",
        "DOID:0060352",
        "DOID:0060858",
        "DOID:0111775",
        "DOID:0060411",
        "DOID:0090016",
        "DOID:1928",
        "DOID:0060413",
        "DOID:0060878",
        "DOID:11198",
        "DOID:0080354",
        "DOID:0060398",
        "DOID:0060394",
        "DOID:0070515",
        "DOID:0060428",
        "DOID:0060410",
        "DOID:12583",
        "DOID:0060389",
        "DOID:0070270",
        "DOID:0060395",
        "DOID:0111723",
        "DOID:0050460",
        "DOID:0060404",
        "DOID:1933"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060388",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060388",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P59041-1",
            "uniprot_ac": "P59041",
            "uniprot_id": "DJC30_MOUSE",
            "refseq_ac": "NP_079638",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily C member 30, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 30",
                    "type": "synonym"
                },
                {
                    "name": "Williams-Beuren syndrome chromosomal region 18 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Williams-Beuren syndrome chromosome region 18 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Williams-Beuren syndrome critical region 18",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 30, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 30, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "williams-Beuren syndrome chromosomal region 18 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajc30",
                    "type": "recommended"
                },
                {
                    "name": "1300007M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnajc30",
                    "type": "synonym"
                },
                {
                    "name": "Wbscr18",
                    "type": "synonym"
                }
            ],
            "record_id": "P59041-1",
            "evidence": [
                {
                    "id": "0060388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHW5-1",
            "uniprot_ac": "Q9VHW5",
            "uniprot_id": "Q9VHW5_DROME",
            "refseq_ac": "NP_001303469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "J domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11035-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-WO0118547.426",
                    "type": "recommended"
                },
                {
                    "name": "CG11035",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11035",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11035",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.426",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHW5-1",
            "evidence": [
                {
                    "id": "0060388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96LL9-1",
            "uniprot_ac": "Q96LL9",
            "uniprot_id": "DJC30_HUMAN",
            "refseq_ac": "NP_115693",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily C member 30, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 30",
                    "type": "synonym"
                },
                {
                    "name": "Williams Beuren syndrome chromosome region 18",
                    "type": "synonym"
                },
                {
                    "name": "Williams-Beuren syndrome chromosomal region 18 protein",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 30, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 30, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "williams-Beuren syndrome chromosomal region 18 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJC30",
                    "type": "recommended"
                },
                {
                    "name": "DNAJC30",
                    "type": "synonym"
                },
                {
                    "name": "LHONAR1",
                    "type": "synonym"
                },
                {
                    "name": "LHONAR",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN38",
                    "type": "synonym"
                },
                {
                    "name": "WBSCR18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96LL9-1",
            "evidence": [
                {
                    "id": "0060388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060388"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060388"
}