{
    "disease_id": "DOID:0060702",
    "recommended_name": {
        "id": "DOID:0060702",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060702",
        "name": "familial hypocalciuric hypercalcemia 3",
        "description": "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060702",
            "name": "FHH type 3",
            "description": ""
        },
        {
            "id": "DOID:0060702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060702",
            "name": "HHC3",
            "description": ""
        },
        {
            "id": "DOID:0060702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060702",
            "name": "familial hypocalciuric hypercalcemia type 3",
            "description": ""
        },
        {
            "id": "DOID:0060702",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060702",
            "name": "hypocalciuric hypercalcemia type III",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "familial hypocalciuric hypercalcemia 3",
            "description": "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene."
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "AP2S1 familial hypocalciuric hypercalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "FHH type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "HHC3",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "familial hypocalciuric hypercalcemia caused by mutation in AP2S1",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "familial hypocalciuric hypercalcemia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "hpocalciuric hypercalcemia, type III",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "FBH3",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "FBHOk",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "familial benign hypercalcemia, Oklahoma variant",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "hypocalciuric hypercalcemia, familial, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "name": "hypocalciuric hypercalcemia, familial, type III",
            "description": ""
        },
        {
            "id": "MIM:600740",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600740",
            "name": "Hypocalciuric hypercalcemia, familial 3",
            "description": "Hypocalciuric hypercalcemia, familial 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060702"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060702",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060702",
            "categories": []
        },
        {
            "id": "MONDO:0010926",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010926",
            "categories": []
        },
        {
            "id": "MIM:600740",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600740",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62743-1",
            "uniprot_ac": "P62743",
            "uniprot_id": "AP2S1_MOUSE",
            "refseq_ac": "NP_941015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 3b",
                    "type": "synonym"
                },
                {
                    "name": "Sigma2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 sigma subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein 2 small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "sigma-adaptin 3b",
                    "type": "synonym"
                },
                {
                    "name": "sigma2-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap2s1",
                    "type": "recommended"
                },
                {
                    "name": "Ap17",
                    "type": "synonym"
                },
                {
                    "name": "Ap2s1",
                    "type": "synonym"
                },
                {
                    "name": "Claps2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62743-1",
            "evidence": [
                {
                    "id": "0060702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53680-1",
            "uniprot_ac": "P53680",
            "uniprot_id": "AP2S1_HUMAN",
            "refseq_ac": "NP_001288005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit sigma isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "HA2 17 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Sigma2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 2 sigma 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-associated/assembly/adaptor protein, small 2 (17kD)",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "sigma-2",
                    "type": "synonym"
                },
                {
                    "name": "sigma2-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP2S1",
                    "type": "recommended"
                },
                {
                    "name": "AP17",
                    "type": "synonym"
                },
                {
                    "name": "AP2S1",
                    "type": "synonym"
                },
                {
                    "name": "CLAPS2",
                    "type": "synonym"
                },
                {
                    "name": "FBH3",
                    "type": "synonym"
                },
                {
                    "name": "FBHOk",
                    "type": "synonym"
                },
                {
                    "name": "HHC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53680-1",
            "evidence": [
                {
                    "id": "600740",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600740"
                },
                {
                    "id": "0060702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00381-1",
            "uniprot_ac": "Q00381",
            "uniprot_id": "AP2S_YEAST",
            "refseq_ac": "NP_012592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "Adaptin small chain",
                    "type": "synonym"
                },
                {
                    "name": "Aps2p",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Sigma2-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APS2",
                    "type": "recommended"
                },
                {
                    "name": "APS2",
                    "type": "synonym"
                },
                {
                    "name": "J1720",
                    "type": "synonym"
                },
                {
                    "name": "YAP17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00381-1",
            "evidence": [
                {
                    "id": "0060702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62744-1",
            "uniprot_ac": "P62744",
            "uniprot_id": "AP2S1_RAT",
            "refseq_ac": "NP_075241",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2 complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 complex subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 3b",
                    "type": "synonym"
                },
                {
                    "name": "Sigma2-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 sigma subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2 subunit sigma",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 2, sigma 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein 2 sigma small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein 2 small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat-associated protein AP17",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-associated protein 17",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane adaptor AP-2 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "sigma-adaptin 3b",
                    "type": "synonym"
                },
                {
                    "name": "sigma2-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap2s1",
                    "type": "recommended"
                },
                {
                    "name": "Ap17",
                    "type": "synonym"
                },
                {
                    "name": "Ap2s1",
                    "type": "synonym"
                },
                {
                    "name": "Claps2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62744-1",
            "evidence": [
                {
                    "id": "0060702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060702"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDC3-1",
            "uniprot_ac": "Q9VDC3",
            "uniprot_id": "Q9VDC3_DROME",
            "refseq_ac": "NP_650961",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-2sigma-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG6056-PA",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex 2, sigma subunit",
                    "type": "synonym"
                },
                {
                    "name": "angur",
                    "type": "synonym"
                },
                {
                    "name": "clathrin AP-2 complex",
                    "type": "synonym"
                },
                {
                    "name": "sigma2-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP-2sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-2 sigma",
                    "type": "synonym"
                },
                {
                    "name": "AP-2-sigma",
                    "type": "synonym"
                },
                {
                    "name": "AP-2sigma",
                    "type": "synonym"
                },
                {
                    "name": "AP2-sigma",
                    "type": "synonym"
                },
                {
                    "name": "AP2",
                    "type": "synonym"
                },
                {
                    "name": "CG6056",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6056",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6056",
                    "type": "synonym"
                },
                {
                    "name": "aps2",
                    "type": "synonym"
                },
                {
                    "name": "cg6056",
                    "type": "synonym"
                },
                {
                    "name": "sigma2-ada",
                    "type": "synonym"
                },
                {
                    "name": "sigma2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDC3-1",
            "evidence": [
                {
                    "id": "0060702",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060702"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060702"
}