{
    "disease_id": "DOID:0111576",
    "recommended_name": {
        "id": "DOID:0111576",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111576",
        "name": "dehydrated hereditary stomatocytosis 1",
        "description": "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111576",
            "name": "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema",
            "description": ""
        },
        {
            "id": "DOID:0111576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111576",
            "name": "PSHK1",
            "description": ""
        },
        {
            "id": "DOID:0111576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111576",
            "name": "pseudohyperkalemia familial 1, due to red cell leak",
            "description": ""
        },
        {
            "id": "DOID:0111576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111576",
            "name": "pseudohyperkalemia edinburgh",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "DHS",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "DHS1",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema",
            "description": ""
        },
        {
            "id": "MONDO:0008689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "name": "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema",
            "description": ""
        },
        {
            "id": "MIM:194380",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/194380",
            "name": "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema",
            "description": "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111576"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111576",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111576",
            "categories": []
        },
        {
            "id": "MONDO:0008689",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008689",
            "categories": []
        },
        {
            "id": "MIM:194380",
            "database": "MIM",
            "url": "https://www.omim.org/entry/194380",
            "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",
            "evidence": [
                {
                    "id": "0111576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111576"
                }
            ]
        },
        {
            "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": "0111576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111576"
                }
            ]
        },
        {
            "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"
                }
            ],
            "gene_names": [
                {
                    "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": "194380",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/194380"
                },
                {
                    "id": "0111576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KL00-1",
            "uniprot_ac": "Q0KL00",
            "uniprot_id": "PIEZ1_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": "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"
                }
            ],
            "gene_names": [
                {
                    "name": "Piezo1",
                    "type": "recommended"
                },
                {
                    "name": "Fam38a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KL00-1",
            "evidence": [
                {
                    "id": "0111576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111576"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "Piezo-like",
                    "type": "synonym"
                },
                {
                    "name": "Pzl-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pzl",
                    "type": "recommended"
                },
                {
                    "name": "CG40188",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "pzl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A126GUQ2-1",
            "evidence": [
                {
                    "id": "0111576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111576"
                }
            ]
        },
        {
            "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",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "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",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Piezo",
                    "type": "recommended"
                },
                {
                    "name": "CG18103",
                    "type": "synonym"
                },
                {
                    "name": "CG31608",
                    "type": "synonym"
                },
                {
                    "name": "CG44122",
                    "type": "synonym"
                },
                {
                    "name": "CG8486",
                    "type": "synonym"
                },
                {
                    "name": "DmPIEZO",
                    "type": "synonym"
                },
                {
                    "name": "DmPiezo",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44122",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44122",
                    "type": "synonym"
                },
                {
                    "name": "Dmpiezo",
                    "type": "synonym"
                },
                {
                    "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",
            "evidence": [
                {
                    "id": "0111576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111576"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111576"
}