{
    "disease_id": "DOID:0081334",
    "recommended_name": {
        "id": "DOID:0081334",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081334",
        "name": "Nestor-Guillermo progeria syndrome",
        "description": "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age."
    },
    "synonyms": [
        {
            "id": "DOID:0081334",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081334",
            "name": "Progeria syndrome, childhood-onset, with osteolysis",
            "description": ""
        },
        {
            "id": "MONDO:0013523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013523",
            "name": "Nestor-Guillermo progeria syndrome",
            "description": "A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life."
        },
        {
            "id": "MONDO:0013523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013523",
            "name": "BANF1-related neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013523",
            "name": "NGPS",
            "description": ""
        },
        {
            "id": "MONDO:0013523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013523",
            "name": "Nestor-Guillermo progeria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013523",
            "name": "PSCOO",
            "description": ""
        },
        {
            "id": "MIM:614008",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614008",
            "name": "Nestor-Guillermo progeria syndrome",
            "description": "Nestor-Guillermo progeria syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081334"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081334",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081334",
            "categories": []
        },
        {
            "id": "MONDO:0013523",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013523",
            "categories": []
        },
        {
            "id": "MIM:614008",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614008",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P026-1",
            "uniprot_ac": "Q6P026",
            "uniprot_id": "BAF_DANRE",
            "refseq_ac": "NP_991125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor",
                    "type": "recommended"
                },
                {
                    "name": "BAF nuclear assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "banf1",
                    "type": "recommended"
                },
                {
                    "name": "baf",
                    "type": "synonym"
                },
                {
                    "name": "banf1",
                    "type": "synonym"
                },
                {
                    "name": "fa01c01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa01c01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77767",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P026-1",
            "evidence": [
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54962-1",
            "uniprot_ac": "O54962",
            "uniprot_id": "BAF_MOUSE",
            "refseq_ac": "NP_001033320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor",
                    "type": "recommended"
                },
                {
                    "name": "LAP2-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor",
                    "type": "synonym"
                },
                {
                    "name": "breakpoint cluster region protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Banf1",
                    "type": "recommended"
                },
                {
                    "name": "Baf",
                    "type": "synonym"
                },
                {
                    "name": "Banf1",
                    "type": "synonym"
                },
                {
                    "name": "Bcrp1",
                    "type": "synonym"
                },
                {
                    "name": "L2bp1/Baf",
                    "type": "synonym"
                },
                {
                    "name": "L2bp1",
                    "type": "synonym"
                }
            ],
            "record_id": "O54962-1",
            "evidence": [
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BVR0-1",
            "uniprot_ac": "Q8BVR0",
            "uniprot_id": "BAFL_MOUSE",
            "refseq_ac": "NP_001038215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor-like protein",
                    "type": "recommended"
                },
                {
                    "name": "BAF-L",
                    "type": "synonym"
                },
                {
                    "name": "Barrier-to-autointegration factor 2",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor 2",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of H. sapiens Chromosome 20 open reading frame 179 (C20orf179)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Banf2",
                    "type": "recommended"
                },
                {
                    "name": "4930517K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Baf-L",
                    "type": "synonym"
                },
                {
                    "name": "Baf-like",
                    "type": "synonym"
                },
                {
                    "name": "Bafl",
                    "type": "synonym"
                },
                {
                    "name": "Banf2",
                    "type": "synonym"
                },
                {
                    "name": "Gm115",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BVR0-1",
            "evidence": [
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75531-1",
            "uniprot_ac": "O75531",
            "uniprot_id": "BAF_HUMAN",
            "refseq_ac": "NP_001137457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor",
                    "type": "recommended"
                },
                {
                    "name": "BAF nuclear assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Breakpoint cluster region protein 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor",
                    "type": "synonym"
                },
                {
                    "name": "breakpoint cluster region protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BANF1",
                    "type": "recommended"
                },
                {
                    "name": "BAF",
                    "type": "synonym"
                },
                {
                    "name": "BANF1",
                    "type": "synonym"
                },
                {
                    "name": "BCRG1",
                    "type": "synonym"
                },
                {
                    "name": "BCRP1",
                    "type": "synonym"
                },
                {
                    "name": "D14S1460",
                    "type": "synonym"
                },
                {
                    "name": "NGPS",
                    "type": "synonym"
                }
            ],
            "record_id": "O75531-1",
            "evidence": [
                {
                    "id": "614008",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614008"
                },
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1T1-1",
            "uniprot_ac": "Q9R1T1",
            "uniprot_id": "BAF_RAT",
            "refseq_ac": "NP_446083",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor",
                    "type": "recommended"
                },
                {
                    "name": "BAF nuclear assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Breakpoint cluster region protein, uterine leiomyoma, 1",
                    "type": "synonym"
                },
                {
                    "name": "LAP2-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Lap2 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor",
                    "type": "synonym"
                },
                {
                    "name": "breakpoint cluster region protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Banf1",
                    "type": "recommended"
                },
                {
                    "name": "Baf",
                    "type": "synonym"
                },
                {
                    "name": "Banf1",
                    "type": "synonym"
                },
                {
                    "name": "Bcrp1",
                    "type": "synonym"
                },
                {
                    "name": "L2bp1/Baf",
                    "type": "synonym"
                },
                {
                    "name": "L2bp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1T1-1",
            "evidence": [
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLU0-1",
            "uniprot_ac": "Q9VLU0",
            "uniprot_id": "BAF_DROME",
            "refseq_ac": "NP_001260220",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor",
                    "type": "recommended"
                },
                {
                    "name": "Barrier-to-Autointegration factor",
                    "type": "synonym"
                },
                {
                    "name": "CG7380-PB",
                    "type": "synonym"
                },
                {
                    "name": "baf-PB",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "baf",
                    "type": "recommended"
                },
                {
                    "name": "BAF",
                    "type": "synonym"
                },
                {
                    "name": "CG7380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7380",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.178",
                    "type": "synonym"
                },
                {
                    "name": "baf",
                    "type": "synonym"
                },
                {
                    "name": "dBAF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLU0-1",
            "evidence": [
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H503-1",
            "uniprot_ac": "Q9H503",
            "uniprot_id": "BAFL_HUMAN",
            "refseq_ac": "NP_001014977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barrier-to-autointegration factor-like protein",
                    "type": "recommended"
                },
                {
                    "name": "BAF-L",
                    "type": "synonym"
                },
                {
                    "name": "Barrier-to-autointegration factor 2",
                    "type": "synonym"
                },
                {
                    "name": "barrier to autointegration factor 2",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "barrier-to-autointegration factor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 212a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BANF2",
                    "type": "recommended"
                },
                {
                    "name": "BAF-L",
                    "type": "synonym"
                },
                {
                    "name": "BAF2",
                    "type": "synonym"
                },
                {
                    "name": "BAFL",
                    "type": "synonym"
                },
                {
                    "name": "BANF2",
                    "type": "synonym"
                },
                {
                    "name": "C20orf179",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H503-1",
            "evidence": [
                {
                    "id": "0081334",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081334"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081334"
}