{
    "disease_id": "DOID:0111546",
    "recommended_name": {
        "id": "DOID:0111546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111546",
        "name": "Currarino syndrome",
        "description": "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111546",
            "name": "Currarino triad",
            "description": ""
        },
        {
            "id": "MONDO:0008305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008305",
            "name": "Currarino triad",
            "description": "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)."
        },
        {
            "id": "MONDO:0008305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008305",
            "name": "Currarino syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008305",
            "name": "Currarino triad",
            "description": ""
        },
        {
            "id": "MONDO:0008305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008305",
            "name": "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation",
            "description": ""
        },
        {
            "id": "MIM:176450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176450",
            "name": "Currarino syndrome",
            "description": "Currarino syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111546"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111546",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111546",
            "categories": []
        },
        {
            "id": "MONDO:0008305",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008305",
            "categories": []
        },
        {
            "id": "MIM:176450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/176450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QZW9-1",
            "uniprot_ac": "Q9QZW9",
            "uniprot_id": "MNX1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Motor neuron and pancreas homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein HB9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mnx1",
                    "type": "recommended"
                },
                {
                    "name": "Hlxb9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZW9-1",
            "evidence": [
                {
                    "id": "0111546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50219-1",
            "uniprot_ac": "P50219",
            "uniprot_id": "MNX1_HUMAN",
            "refseq_ac": "NP_001158727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Motor neuron and pancreas homeobox protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein HB9",
                    "type": "synonym"
                },
                {
                    "name": "homeobox HB9",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HB9",
                    "type": "synonym"
                },
                {
                    "name": "motor neuron and pancreas homeobox protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "motor neuron and pancreas homeobox protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MNX1",
                    "type": "recommended"
                },
                {
                    "name": "HB9",
                    "type": "synonym"
                },
                {
                    "name": "HLXB9",
                    "type": "synonym"
                },
                {
                    "name": "HOXHB9",
                    "type": "synonym"
                },
                {
                    "name": "MNX1",
                    "type": "synonym"
                },
                {
                    "name": "SCRA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P50219-1",
            "evidence": [
                {
                    "id": "176450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/176450"
                },
                {
                    "id": "0111546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R6D8-1",
            "uniprot_ac": "M0R6D8",
            "uniprot_id": "MNX1_RAT",
            "refseq_ac": "NP_001258203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Motor neuron and pancreas homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein HB9",
                    "type": "synonym"
                },
                {
                    "name": "homeobox gene HB9",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HB9",
                    "type": "synonym"
                },
                {
                    "name": "motor neuron and pancreas homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "motor neuron and pancreas homeobox protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mnx1",
                    "type": "recommended"
                },
                {
                    "name": "Hlxb9",
                    "type": "synonym"
                },
                {
                    "name": "Mnx1",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R6D8-1",
            "evidence": [
                {
                    "id": "0111546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSC2-1",
            "uniprot_ac": "Q9VSC2",
            "uniprot_id": "Q9VSC2_DROME",
            "refseq_ac": "NP_648164",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8254-PA",
                    "type": "synonym"
                },
                {
                    "name": "Extra-extra",
                    "type": "synonym"
                },
                {
                    "name": "exex-PA",
                    "type": "synonym"
                },
                {
                    "name": "extra-extra",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "exex",
                    "type": "recommended"
                },
                {
                    "name": "CG8254",
                    "type": "synonym"
                },
                {
                    "name": "DHB9",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8254",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8254",
                    "type": "synonym"
                },
                {
                    "name": "Exex",
                    "type": "synonym"
                },
                {
                    "name": "HB9",
                    "type": "synonym"
                },
                {
                    "name": "Hb9",
                    "type": "synonym"
                },
                {
                    "name": "dHB9",
                    "type": "synonym"
                },
                {
                    "name": "dHb9",
                    "type": "synonym"
                },
                {
                    "name": "dhb9",
                    "type": "synonym"
                },
                {
                    "name": "exex",
                    "type": "synonym"
                },
                {
                    "name": "hb9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSC2-1",
            "evidence": [
                {
                    "id": "0111546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111546"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111546"
}