{
    "disease_id": "DOID:0111608",
    "recommended_name": {
        "id": "DOID:0111608",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111608",
        "name": "distal arthrogryposis type 5",
        "description": "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "name": "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "name": "DA5",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "name": "DAIIB",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "name": "distal arthrogryposis type IIB",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "name": "distal arthrogryposis with ophthalmoplegia",
            "description": ""
        },
        {
            "id": "DOID:0111608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "name": "oculomelic amyoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome",
            "description": "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal."
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "distal arthrogryposis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "distal arthrogryposis type IIB",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "distal arthrogryposis with ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "oculomelic amyoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "Arthogryposis with oculomotor limitation and electroretinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "DA5",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis ophthalmoplegia retinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis with oculomotor limitation and electroretinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "name": "arthrogryposis, distal, type 5",
            "description": ""
        },
        {
            "id": "MIM:108145",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108145",
            "name": "Arthrogryposis, distal, 5",
            "description": "Arthrogryposis, distal, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111608"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111608",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111608",
            "categories": []
        },
        {
            "id": "MONDO:0007158",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007158",
            "categories": []
        },
        {
            "id": "MIM:108145",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108145",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TDV6-1",
            "uniprot_ac": "A0A8N7TDV6",
            "uniprot_id": "A0A8N7TDV6_DANRE",
            "refseq_ac": "XP_696355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "piezo-type mechanosensitive ion channel component 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "piezo1",
                    "type": "recommended"
                },
                {
                    "name": "piezo1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TDV6-1",
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                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CD54-1",
            "uniprot_ac": "Q8CD54",
            "uniprot_id": "PIEZ2_MOUSE",
            "refseq_ac": "NP_001034574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein FAM38B",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 38, member B2",
                    "type": "synonym"
                },
                {
                    "name": "piezo-type mechanosensitive ion channel component 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Piezo2",
                    "type": "recommended"
                },
                {
                    "name": "5930434P17",
                    "type": "synonym"
                },
                {
                    "name": "9030411M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430028L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fam38b2",
                    "type": "synonym"
                },
                {
                    "name": "Fam38b",
                    "type": "synonym"
                },
                {
                    "name": "Piezo2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CD54-1",
            "evidence": [
                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E2JF22-1",
            "uniprot_ac": "E2JF22",
            "uniprot_id": "PIEZ1_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": "Piezo-type mechanosensitive ion channel component 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein FAM38A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Piezo1",
                    "type": "recommended"
                },
                {
                    "name": "Fam38a",
                    "type": "synonym"
                }
            ],
            "record_id": "E2JF22-1",
            "evidence": [
                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H5I5-1",
            "uniprot_ac": "Q9H5I5",
            "uniprot_id": "PIEZ2_HUMAN",
            "refseq_ac": "NP_071351",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein FAM38B",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 38, member A pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 38, member B2",
                    "type": "synonym"
                },
                {
                    "name": "piezo-type mechanosensitive ion channel component 1 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "piezo-type mechanosensitive ion channel component 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein PIEZO2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIEZO2",
                    "type": "recommended"
                },
                {
                    "name": "C18orf30",
                    "type": "synonym"
                },
                {
                    "name": "C18orf58",
                    "type": "synonym"
                },
                {
                    "name": "DA3",
                    "type": "synonym"
                },
                {
                    "name": "DA5",
                    "type": "synonym"
                },
                {
                    "name": "DAIPT",
                    "type": "synonym"
                },
                {
                    "name": "FAM38B2",
                    "type": "synonym"
                },
                {
                    "name": "FAM38B",
                    "type": "synonym"
                },
                {
                    "name": "HsT748",
                    "type": "synonym"
                },
                {
                    "name": "HsT771",
                    "type": "synonym"
                },
                {
                    "name": "MWKS",
                    "type": "synonym"
                },
                {
                    "name": "PIEZO2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H5I5-1",
            "evidence": [
                {
                    "id": "108145",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108145"
                },
                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A0I2-1",
            "uniprot_ac": "A0A8I6A0I2",
            "uniprot_id": "A0A8I6A0I2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Piezo2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6A0I2-1",
            "evidence": [
                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KL00-1",
            "uniprot_ac": "Q0KL00",
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            "refseq_ac": "",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component 1",
                    "type": "recommended"
                },
                {
                    "name": "Membrane protein induced by beta-amyloid treatment",
                    "type": "synonym"
                },
                {
                    "name": "Mib",
                    "type": "synonym"
                },
                {
                    "name": "Protein FAM38A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Piezo1",
                    "type": "recommended"
                },
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                    "id": "0111608",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9MSG8-1",
            "uniprot_ac": "M9MSG8",
            "uniprot_id": "PIEZO_DROME",
            "refseq_ac": "NP_001188719",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Piezo-type mechanosensitive ion channel component",
                    "type": "recommended"
                },
                {
                    "name": "CG44122-PI",
                    "type": "synonym"
                },
                {
                    "name": "Piezo-PI",
                    "type": "synonym"
                },
                {
                    "name": "dmpiezo",
                    "type": "synonym"
                },
                {
                    "name": "fos-related gene at 28F",
                    "type": "synonym"
                },
                {
                    "name": "piezo, isoform I",
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                }
            ],
            "gene_names": [
                {
                    "name": "Piezo",
                    "type": "recommended"
                },
                {
                    "name": "CG18103",
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                },
                {
                    "name": "CG31608",
                    "type": "synonym"
                },
                {
                    "name": "CG44122",
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                },
                {
                    "name": "CG8486",
                    "type": "synonym"
                },
                {
                    "name": "DmPIEZO",
                    "type": "synonym"
                },
                {
                    "name": "DmPiezo",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44122",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44122",
                    "type": "synonym"
                },
                {
                    "name": "Dmpiezo",
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                },
                {
                    "name": "OrfKD",
                    "type": "synonym"
                },
                {
                    "name": "Piezo",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.32",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.32",
                    "type": "synonym"
                },
                {
                    "name": "fos28F",
                    "type": "synonym"
                },
                {
                    "name": "fos500",
                    "type": "synonym"
                },
                {
                    "name": "piezo",
                    "type": "synonym"
                }
            ],
            "record_id": "M9MSG8-1",
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                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A126GUQ2-1",
            "uniprot_ac": "A0A126GUQ2",
            "uniprot_id": "A0A126GUQ2_DROME",
            "refseq_ac": "NP_001303493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component",
                    "type": "recommended"
                },
                {
                    "name": "CG45783-PE",
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                },
                {
                    "name": "Piezo-like",
                    "type": "synonym"
                },
                {
                    "name": "Pzl-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pzl",
                    "type": "recommended"
                },
                {
                    "name": "CG40188",
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                },
                {
                    "name": "CG40232",
                    "type": "synonym"
                },
                {
                    "name": "CG40249",
                    "type": "synonym"
                },
                {
                    "name": "CG40328",
                    "type": "synonym"
                },
                {
                    "name": "CG41056",
                    "type": "synonym"
                },
                {
                    "name": "CG41238",
                    "type": "synonym"
                },
                {
                    "name": "CG41369",
                    "type": "synonym"
                },
                {
                    "name": "CG42617",
                    "type": "synonym"
                },
                {
                    "name": "CG42618",
                    "type": "synonym"
                },
                {
                    "name": "CG45783",
                    "type": "synonym"
                },
                {
                    "name": "CR41056",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45783",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45783",
                    "type": "synonym"
                },
                {
                    "name": "Pzl",
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                },
                {
                    "name": "pzl",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92508-1",
            "uniprot_ac": "Q92508",
            "uniprot_id": "PIEZ1_HUMAN",
            "refseq_ac": "NP_001136336",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Piezo-type mechanosensitive ion channel component 1",
                    "type": "recommended"
                },
                {
                    "name": "Membrane protein induced by beta-amyloid treatment",
                    "type": "synonym"
                },
                {
                    "name": "Mib",
                    "type": "synonym"
                },
                {
                    "name": "Protein FAM38A",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 38, member A",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein induced by beta-amyloid treatment",
                    "type": "synonym"
                },
                {
                    "name": "piezo-type mechanosensitive ion channel component 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "PIEZO1",
                    "type": "recommended"
                },
                {
                    "name": "DHS",
                    "type": "synonym"
                },
                {
                    "name": "ER",
                    "type": "synonym"
                },
                {
                    "name": "FAM38A",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0233",
                    "type": "synonym"
                },
                {
                    "name": "LMPH3",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM6",
                    "type": "synonym"
                },
                {
                    "name": "Mib",
                    "type": "synonym"
                },
                {
                    "name": "PIEZO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92508-1",
            "evidence": [
                {
                    "id": "0111608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111608"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111608"
}