{
    "disease_id": "DOID:0081075",
    "recommended_name": {
        "id": "DOID:0081075",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081075",
        "name": "Marsili syndrome",
        "description": "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "congenital insensitivity to pain syndrome, Marsili type",
            "description": "A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat."
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "MARSILI syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "MARSIS",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "Marsili syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "congenital analgesia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "indifference to pain, congenital, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "insensitivity to pain, congenital, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:147430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/147430",
            "name": "Marsili syndrome",
            "description": "Marsili syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081075"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081075",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081075",
            "categories": []
        },
        {
            "id": "MONDO:0958106",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "categories": []
        },
        {
            "id": "MIM:147430",
            "database": "MIM",
            "url": "https://www.omim.org/entry/147430",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PYY4-1",
            "uniprot_ac": "A0A8M1PYY4",
            "uniprot_id": "A0A8M1PYY4_DANRE",
            "refseq_ac": "XP_001335082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein zfhx2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein zfhx2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfhx2",
                    "type": "recommended"
                },
                {
                    "name": "zfhx2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PYY4-1",
            "evidence": [
                {
                    "id": "0081075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2MHN3-1",
            "uniprot_ac": "Q2MHN3",
            "uniprot_id": "ZFHX2_MOUSE",
            "refseq_ac": "NP_001034287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger homeodomain protein 5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfhx2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1056",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-5",
                    "type": "synonym"
                },
                {
                    "name": "Zfhx2",
                    "type": "synonym"
                },
                {
                    "name": "zfh-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2MHN3-1",
            "evidence": [
                {
                    "id": "0081075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0A1-1",
            "uniprot_ac": "Q9C0A1",
            "uniprot_id": "ZFHX2_HUMAN",
            "refseq_ac": "NP_207646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ZFH-2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 409",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZFHX2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1056",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1762",
                    "type": "synonym"
                },
                {
                    "name": "MARSIS",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-5",
                    "type": "synonym"
                },
                {
                    "name": "ZFH5",
                    "type": "synonym"
                },
                {
                    "name": "ZFHX2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF409",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0A1-1",
            "evidence": [
                {
                    "id": "147430",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/147430"
                },
                {
                    "id": "0081075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZF41-1",
            "uniprot_ac": "D3ZF41",
            "uniprot_id": "D3ZF41_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfhx2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZF41-1",
            "evidence": [
                {
                    "id": "0081075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28167-1",
            "uniprot_ac": "P28167",
            "uniprot_id": "ZFH2_DROME",
            "refseq_ac": "NP_524623",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG1449-PA",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zn finger homeodomain 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "zfh2-PA",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain-2",
                    "type": "synonym"
                },
                {
                    "name": "zn finger homeodomain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfh2",
                    "type": "recommended"
                },
                {
                    "name": "CG1449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1449",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-2",
                    "type": "synonym"
                },
                {
                    "name": "ZFH2",
                    "type": "synonym"
                },
                {
                    "name": "Zfh-2",
                    "type": "synonym"
                },
                {
                    "name": "Zfh2",
                    "type": "synonym"
                },
                {
                    "name": "zfh-2",
                    "type": "synonym"
                },
                {
                    "name": "zfh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P28167-1",
            "evidence": [
                {
                    "id": "0081075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081075"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081075"
}