{
    "disease_id": "DOID:0080962",
    "recommended_name": {
        "id": "DOID:0080962",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080962",
        "name": "anauxetic dysplasia 2",
        "description": "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0054561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054561",
            "name": "anauxetic dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0054561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054561",
            "name": "anauxetic dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0054561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054561",
            "name": "ANXD2",
            "description": ""
        },
        {
            "id": "MIM:617396",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617396",
            "name": "Anauxetic dysplasia 2",
            "description": "Anauxetic dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080962"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080962",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080962",
            "categories": []
        },
        {
            "id": "MONDO:0054561",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054561",
            "categories": []
        },
        {
            "id": "MIM:617396",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617396",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99575-1",
            "uniprot_ac": "Q99575",
            "uniprot_id": "POP1_HUMAN",
            "refseq_ac": "NP_001139332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonucleases P/MRP protein subunit POP1",
                    "type": "recommended"
                },
                {
                    "name": "POP1 homolog, ribonuclease P/MRP subunit",
                    "type": "synonym"
                },
                {
                    "name": "hPOP1",
                    "type": "synonym"
                },
                {
                    "name": "processing of precursor 1, ribonuclease P/MRP subunit",
                    "type": "synonym"
                },
                {
                    "name": "processing of precursors 1",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleases P/MRP protein subunit POP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POP1",
                    "type": "recommended"
                },
                {
                    "name": "ANXD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0061",
                    "type": "synonym"
                },
                {
                    "name": "POP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99575-1",
            "evidence": [
                {
                    "id": "617396",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617396"
                },
                {
                    "id": "0080962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41812-1",
            "uniprot_ac": "P41812",
            "uniprot_id": "POP1_YEAST",
            "refseq_ac": "NP_014178",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonucleases P/MRP protein subunit POP1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.5",
                    "type": "synonym"
                },
                {
                    "name": "RNA-processing protein POP1",
                    "type": "synonym"
                },
                {
                    "name": "RNases P/MRP 100.4 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease P/MRP protein subunit POP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POP1",
                    "type": "recommended"
                },
                {
                    "name": "N1285",
                    "type": "synonym"
                },
                {
                    "name": "POP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41812-1",
            "evidence": [
                {
                    "id": "0080962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AE75-1",
            "uniprot_ac": "D4AE75",
            "uniprot_id": "D4AE75_RAT",
            "refseq_ac": "NP_001124022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "POP1 homolog, ribonuclease P/MRP subunit",
                    "type": "synonym"
                },
                {
                    "name": "processing of precursor 1, ribonuclease P/MRP subunit",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleases P/MRP protein subunit POP1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleases P/MRP protein subunit POP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pop1",
                    "type": "recommended"
                },
                {
                    "name": "Pop1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AE75-1",
            "evidence": [
                {
                    "id": "0080962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVW2-1",
            "uniprot_ac": "Q7KVW2",
            "uniprot_id": "Q7KVW2_DROME",
            "refseq_ac": "NP_572236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32763-PA",
                    "type": "synonym"
                },
                {
                    "name": "POP1 ribonuclease P/MRP subunit",
                    "type": "synonym"
                },
                {
                    "name": "Pop1-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0045",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pop1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD21623",
                    "type": "synonym"
                },
                {
                    "name": "CG32763",
                    "type": "synonym"
                },
                {
                    "name": "CG4129",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32763",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32763",
                    "type": "synonym"
                },
                {
                    "name": "Pop1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0045",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0312",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVW2-1",
            "evidence": [
                {
                    "id": "0080962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080962"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080962"
}