{
    "disease_id": "DOID:0111264",
    "recommended_name": {
        "id": "DOID:0111264",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111264",
        "name": "Ruijs-Aalfs syndrome",
        "description": "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111264",
            "name": "progeroid features-hepatocellular carcinoma predisposition syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "progeroid features-hepatocellular carcinoma predisposition syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "Ruijs-Aalfs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "RJALS",
            "description": ""
        },
        {
            "id": "MONDO:0014527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "name": "RUIJS-Aalfs syndrome",
            "description": ""
        },
        {
            "id": "MIM:616200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616200",
            "name": "Ruijs-Aalfs syndrome",
            "description": "Ruijs-Aalfs syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111264"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111264",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111264",
            "categories": []
        },
        {
            "id": "MONDO:0014527",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014527",
            "categories": []
        },
        {
            "id": "MIM:616200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2L7I0-1",
            "uniprot_ac": "A0A0G2L7I0",
            "uniprot_id": "SPRTN_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Protein with SprT-like domain at the N terminus",
                    "type": "synonym"
                },
                {
                    "name": "Spartan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sprtn",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2L7I0-1",
            "evidence": [
                {
                    "id": "0111264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3X912-1",
            "uniprot_ac": "G3X912",
            "uniprot_id": "SPRTN_MOUSE",
            "refseq_ac": "NP_001104611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent metalloprotease SPRTN isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "synonym"
                },
                {
                    "name": "Protein with SprT-like domain at the N terminus",
                    "type": "synonym"
                },
                {
                    "name": "Spartan",
                    "type": "synonym"
                },
                {
                    "name": "protein with SprT-like domain at the N terminus",
                    "type": "synonym"
                },
                {
                    "name": "spartan",
                    "type": "synonym"
                },
                {
                    "name": "sprT-like domain-containing protein Spartan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sprtn",
                    "type": "recommended"
                },
                {
                    "name": "Gm505",
                    "type": "synonym"
                },
                {
                    "name": "Sprtn",
                    "type": "synonym"
                }
            ],
            "record_id": "G3X912-1",
            "evidence": [
                {
                    "id": "0111264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H040-1",
            "uniprot_ac": "Q9H040",
            "uniprot_id": "SPRTN_HUMAN",
            "refseq_ac": "NP_001010984",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage protein targeting VCP",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage-targeting VCP (p97) adaptor",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent metalloprotease SPRTN isoform b",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "synonym"
                },
                {
                    "name": "DVC1",
                    "type": "synonym"
                },
                {
                    "name": "Protein with SprT-like domain at the N terminus",
                    "type": "synonym"
                },
                {
                    "name": "Spartan",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger RAD18 domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPRTN",
                    "type": "recommended"
                },
                {
                    "name": "C1orf124",
                    "type": "synonym"
                },
                {
                    "name": "DVC1",
                    "type": "synonym"
                },
                {
                    "name": "PRO4323",
                    "type": "synonym"
                },
                {
                    "name": "SPRTN",
                    "type": "synonym"
                },
                {
                    "name": "spartan",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H040-1",
            "evidence": [
                {
                    "id": "616200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616200"
                },
                {
                    "id": "0111264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVU1-1",
            "uniprot_ac": "D3ZVU1",
            "uniprot_id": "SPRTN_RAT",
            "refseq_ac": "NP_001386111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent metalloprotease SPRTN",
                    "type": "synonym"
                },
                {
                    "name": "Protein with SprT-like domain at the N terminus",
                    "type": "synonym"
                },
                {
                    "name": "Spartan",
                    "type": "synonym"
                },
                {
                    "name": "protein with SprT-like domain at the N terminus",
                    "type": "synonym"
                },
                {
                    "name": "spartan",
                    "type": "synonym"
                },
                {
                    "name": "sprT-like domain-containing protein Spartan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sprtn",
                    "type": "recommended"
                },
                {
                    "name": "RGD1559496",
                    "type": "synonym"
                },
                {
                    "name": "Sprtn",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVU1-1",
            "evidence": [
                {
                    "id": "0111264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXU6-1",
            "uniprot_ac": "Q9VXU6",
            "uniprot_id": "Q9VXU6_DROME",
            "refseq_ac": "NP_573032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein with SprT-like domain at the N terminus",
                    "type": "recommended"
                },
                {
                    "name": "CG9203-PA",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)maternal haploid",
                    "type": "synonym"
                },
                {
                    "name": "maternal haploid",
                    "type": "synonym"
                },
                {
                    "name": "mh-PA",
                    "type": "synonym"
                },
                {
                    "name": "spartan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mh",
                    "type": "recommended"
                },
                {
                    "name": "CG9203",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9203",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9203",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)1182",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)A1182",
                    "type": "synonym"
                },
                {
                    "name": "mh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXU6-1",
            "evidence": [
                {
                    "id": "0111264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111264"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111264"
}