{
    "disease_id": "DOID:0061013",
    "recommended_name": {
        "id": "DOID:0061013",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061013",
        "name": "ovarian dysgenesis 9",
        "description": "A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11."
    },
    "synonyms": [
        {
            "id": "DOID:0061013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061013",
            "name": "ODG9",
            "description": ""
        },
        {
            "id": "MONDO:0030506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030506",
            "name": "ovarian dysgenesis 9",
            "description": ""
        },
        {
            "id": "MONDO:0030506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030506",
            "name": "ODG9",
            "description": ""
        },
        {
            "id": "MIM:619665",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619665",
            "name": "Ovarian dysgenesis 9",
            "description": "Ovarian dysgenesis 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061013"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061013",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061013",
            "categories": []
        },
        {
            "id": "MONDO:0030506",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030506",
            "categories": []
        },
        {
            "id": "MIM:619665",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619665",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BGX7-1",
            "uniprot_ac": "Q8BGX7",
            "uniprot_id": "SPIDR_MOUSE",
            "refseq_ac": "NP_666180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair-scaffolding protein",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair-scaffolding protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair-scaffolding protein",
                    "type": "synonym"
                },
                {
                    "name": "Scaffolding protein involved in DNA repair",
                    "type": "synonym"
                },
                {
                    "name": "scaffolding protein involved i DNA repair",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spidr",
                    "type": "recommended"
                },
                {
                    "name": "2310008H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0146",
                    "type": "synonym"
                },
                {
                    "name": "Spidr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGX7-1",
            "evidence": [
                {
                    "id": "0061013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14159-1",
            "uniprot_ac": "Q14159",
            "uniprot_id": "SPIDR_HUMAN",
            "refseq_ac": "NP_001073863",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair-scaffolding protein",
                    "type": "recommended"
                },
                {
                    "name": "DNA repair-scaffolding protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair-scaffolding protein",
                    "type": "synonym"
                },
                {
                    "name": "Scaffolding protein involved in DNA repair",
                    "type": "synonym"
                },
                {
                    "name": "scaffolding protein involved in DNA repair",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPIDR",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0146",
                    "type": "synonym"
                },
                {
                    "name": "ODG9",
                    "type": "synonym"
                },
                {
                    "name": "SPIDR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14159-1",
            "evidence": [
                {
                    "id": "619665",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619665"
                },
                {
                    "id": "0061013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061013"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061013"
}