{
    "disease_id": "DOID:0080170",
    "recommended_name": {
        "id": "DOID:0080170",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080170",
        "name": "normophosphatemic familial tumoral calcinosis",
        "description": "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors."
    },
    "synonyms": [
        {
            "id": "MONDO:0012502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012502",
            "name": "normophosphatemic familial tumoral calcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0012502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012502",
            "name": "normophosphatemic familial tumoral calcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0012502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012502",
            "name": "tumoral calcinosis, familial, normophosphatemic",
            "description": ""
        },
        {
            "id": "MONDO:0012502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012502",
            "name": "NFTC",
            "description": ""
        },
        {
            "id": "MONDO:0012502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012502",
            "name": "tumoral calcinosis, normophosphatemic, familial",
            "description": ""
        },
        {
            "id": "MIM:610455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610455",
            "name": "Tumoral calcinosis, normophosphatemic, familial",
            "description": "Tumoral calcinosis, normophosphatemic, familial"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080170"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080170",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080170",
            "categories": []
        },
        {
            "id": "MONDO:0012502",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012502",
            "categories": []
        },
        {
            "id": "MIM:610455",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610455",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q69Z37-1",
            "uniprot_ac": "Q69Z37",
            "uniprot_id": "SAM9L_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 9-like",
                    "type": "recommended"
                },
                {
                    "name": "SAM domain-containing protein 9-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Samd9l",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa2005",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69Z37-1",
            "evidence": [
                {
                    "id": "0080170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5K651-1",
            "uniprot_ac": "Q5K651",
            "uniprot_id": "SAMD9_HUMAN",
            "refseq_ac": "NP_001180236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 9",
                    "type": "recommended"
                },
                {
                    "name": "SAM domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "expressed in aggressive fibromatosis",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAMD9",
                    "type": "recommended"
                },
                {
                    "name": "C7orf5",
                    "type": "synonym"
                },
                {
                    "name": "DRIF1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA2004",
                    "type": "synonym"
                },
                {
                    "name": "M7MLS2",
                    "type": "synonym"
                },
                {
                    "name": "MIRAGE",
                    "type": "synonym"
                },
                {
                    "name": "NFTC",
                    "type": "synonym"
                },
                {
                    "name": "OEF1",
                    "type": "synonym"
                },
                {
                    "name": "OEF2",
                    "type": "synonym"
                },
                {
                    "name": "SAMD9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5K651-1",
            "evidence": [
                {
                    "id": "610455",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610455"
                },
                {
                    "id": "0080170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JVW6-1",
            "uniprot_ac": "A0A0G2JVW6",
            "uniprot_id": "A0A0G2JVW6_RAT",
            "refseq_ac": "NP_001386282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain containing 9",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Samd9",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563091",
                    "type": "synonym"
                },
                {
                    "name": "Samd9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JVW6-1",
            "evidence": [
                {
                    "id": "0080170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080170"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080170"
}