{
    "disease_id": "DOID:0111577",
    "recommended_name": {
        "id": "DOID:0111577",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111577",
        "name": "dehydrated hereditary stomatocytosis 2",
        "description": "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111577",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111577",
            "name": "desiccytosis Gardos",
            "description": ""
        },
        {
            "id": "DOID:0111577",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111577",
            "name": "xerocytosis Gardos",
            "description": ""
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "dehydrated hereditary stomatocytosis 2",
            "description": "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene."
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "DHS2",
            "description": ""
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "Dehydrated hereditary stomatocytosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "Dehydrated hereditary stomatocytosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "KCNN4 dehydrated hereditary stomatocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "dehydrated hereditary stomatocytosis 2; DHS2",
            "description": ""
        },
        {
            "id": "MONDO:0014737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "name": "dehydrated hereditary stomatocytosis caused by mutation in KCNN4",
            "description": ""
        },
        {
            "id": "MIM:616689",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616689",
            "name": "Dehydrated hereditary stomatocytosis 2",
            "description": "Dehydrated hereditary stomatocytosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111577"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111577",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111577",
            "categories": []
        },
        {
            "id": "MONDO:0014737",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014737",
            "categories": []
        },
        {
            "id": "MIM:616689",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616689",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WCL6-1",
            "uniprot_ac": "X1WCL6",
            "uniprot_id": "X1WCL6_DANRE",
            "refseq_ac": "XP_005158211",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermediate conductance calcium-activated potassium channel protein 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "intermediate conductance calcium-activated potassium channel protein 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnn4",
                    "type": "recommended"
                },
                {
                    "name": "kcnn4",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WCL6-1",
            "evidence": [
                {
                    "id": "0111577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89109-1",
            "uniprot_ac": "O89109",
            "uniprot_id": "KCNN4_MOUSE",
            "refseq_ac": "NP_001156982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermediate conductance calcium-activated potassium channel protein 4",
                    "type": "recommended"
                },
                {
                    "name": "KCa3.1",
                    "type": "synonym"
                },
                {
                    "name": "SK4",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 4",
                    "type": "synonym"
                },
                {
                    "name": "SKCa4",
                    "type": "synonym"
                },
                {
                    "name": "intermediate conductance calcium-activated potassium channel protein 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "intermediate conductance calcium-activated potassium channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mIK1",
                    "type": "synonym"
                },
                {
                    "name": "mKCa4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnn4",
                    "type": "recommended"
                },
                {
                    "name": "IK1",
                    "type": "synonym"
                },
                {
                    "name": "IKCA1",
                    "type": "synonym"
                },
                {
                    "name": "KCA4",
                    "type": "synonym"
                },
                {
                    "name": "KCa3.1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnn4",
                    "type": "synonym"
                },
                {
                    "name": "SK4",
                    "type": "synonym"
                },
                {
                    "name": "SKCas",
                    "type": "synonym"
                },
                {
                    "name": "mIK1",
                    "type": "synonym"
                },
                {
                    "name": "mIKCa1",
                    "type": "synonym"
                },
                {
                    "name": "mKCa4",
                    "type": "synonym"
                }
            ],
            "record_id": "O89109-1",
            "evidence": [
                {
                    "id": "0111577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15554-1",
            "uniprot_ac": "O15554",
            "uniprot_id": "KCNN4_HUMAN",
            "refseq_ac": "NP_002241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermediate conductance calcium-activated potassium channel protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Gardos channel",
                    "type": "synonym"
                },
                {
                    "name": "IKCa1",
                    "type": "synonym"
                },
                {
                    "name": "KCa3.1",
                    "type": "synonym"
                },
                {
                    "name": "Putative Gardos channel",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 4",
                    "type": "synonym"
                },
                {
                    "name": "SKCa4",
                    "type": "synonym"
                },
                {
                    "name": "gardos channel",
                    "type": "synonym"
                },
                {
                    "name": "hIK1",
                    "type": "synonym"
                },
                {
                    "name": "hKCa4",
                    "type": "synonym"
                },
                {
                    "name": "hSK4",
                    "type": "synonym"
                },
                {
                    "name": "intermediate conductance calcium-activated potassium channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "intermediate-conductance Ca2+-activated K+ channel, KCa3.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4",
                    "type": "synonym"
                },
                {
                    "name": "putative Gardos channel",
                    "type": "synonym"
                },
                {
                    "name": "putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNN4",
                    "type": "recommended"
                },
                {
                    "name": "DHS2",
                    "type": "synonym"
                },
                {
                    "name": "IK1",
                    "type": "synonym"
                },
                {
                    "name": "IKCA1",
                    "type": "synonym"
                },
                {
                    "name": "IK",
                    "type": "synonym"
                },
                {
                    "name": "KCA4",
                    "type": "synonym"
                },
                {
                    "name": "KCNN4",
                    "type": "synonym"
                },
                {
                    "name": "KCa3.1",
                    "type": "synonym"
                },
                {
                    "name": "SK4",
                    "type": "synonym"
                },
                {
                    "name": "SKCa4",
                    "type": "synonym"
                },
                {
                    "name": "hIK1",
                    "type": "synonym"
                },
                {
                    "name": "hIKCa1",
                    "type": "synonym"
                },
                {
                    "name": "hKCa4",
                    "type": "synonym"
                },
                {
                    "name": "hSK4",
                    "type": "synonym"
                }
            ],
            "record_id": "O15554-1",
            "evidence": [
                {
                    "id": "616689",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616689"
                },
                {
                    "id": "0111577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYW1-1",
            "uniprot_ac": "Q9QYW1",
            "uniprot_id": "KCNN4_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": "Intermediate conductance calcium-activated potassium channel protein 4",
                    "type": "recommended"
                },
                {
                    "name": "KCa3.1",
                    "type": "synonym"
                },
                {
                    "name": "KCa4",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 4",
                    "type": "synonym"
                },
                {
                    "name": "SKCa4",
                    "type": "synonym"
                },
                {
                    "name": "SMIK",
                    "type": "synonym"
                },
                {
                    "name": "Smooth muscle intermediate-conductance KCa channel",
                    "type": "synonym"
                },
                {
                    "name": "rIK1",
                    "type": "synonym"
                },
                {
                    "name": "rSK4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnn4",
                    "type": "recommended"
                },
                {
                    "name": "Ik1",
                    "type": "synonym"
                },
                {
                    "name": "Sk4",
                    "type": "synonym"
                },
                {
                    "name": "Smik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYW1-1",
            "evidence": [
                {
                    "id": "0111577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111577"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111577"
}