{
    "disease_id": "DOID:0061185",
    "recommended_name": {
        "id": "DOID:0061185",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061185",
        "name": "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia",
        "description": "A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "hyperzincemia with functional zinc depletion",
            "description": ""
        },
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "hyperzincemia and hypercalprotectinemia",
            "description": ""
        },
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "hyperzincemia with functional zinc depletion",
            "description": ""
        },
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome",
            "description": ""
        },
        {
            "id": "MIM:601979",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601979",
            "name": "Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia",
            "description": "Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061185"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061185",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061185",
            "categories": []
        },
        {
            "id": "MONDO:0011174",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "categories": []
        },
        {
            "id": "MIM:601979",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601979",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G0H7-1",
            "uniprot_ac": "A0AC58G0H7",
            "uniprot_id": "A0AC58G0H7_DANRE",
            "refseq_ac": "XP_073763217",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-serine-threonine phosphatase-interacting protein 1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "proline-serine-threonine phosphatase-interacting protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pstpip1b",
                    "type": "recommended"
                },
                {
                    "name": "pstpip1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123255",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G0H7-1",
            "evidence": [
                {
                    "id": "0061185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1LX61-1",
            "uniprot_ac": "Q1LX61",
            "uniprot_id": "Q1LX61_DANRE",
            "refseq_ac": "NP_001038681",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-serine-threonine phosphatase-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "proline-serine-threonine phosphatase-interacting protein 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pstpip1a",
                    "type": "recommended"
                },
                {
                    "name": "pstpip1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-24l11.5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LX61-1",
            "evidence": [
                {
                    "id": "0061185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97814-1",
            "uniprot_ac": "P97814",
            "uniprot_id": "PPIP1_MOUSE",
            "refseq_ac": "NP_035323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-serine-threonine phosphatase-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PEST phosphatase-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "proline-serine-threonine phosphatase-interacting protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pstpip1",
                    "type": "recommended"
                },
                {
                    "name": "CD2BP1",
                    "type": "synonym"
                },
                {
                    "name": "Pstpip1",
                    "type": "synonym"
                },
                {
                    "name": "def-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97814-1",
            "evidence": [
                {
                    "id": "0061185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43586-1",
            "uniprot_ac": "O43586",
            "uniprot_id": "PPIP1_HUMAN",
            "refseq_ac": "NP_001308064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-serine-threonine phosphatase-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CD2 antigen-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CD2 cytoplasmic tail-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CD2-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "H-PIP",
                    "type": "synonym"
                },
                {
                    "name": "PEST phosphatase-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "proline-serine-threonine phosphatase-interacting protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSTPIP1",
                    "type": "recommended"
                },
                {
                    "name": "AICZC",
                    "type": "synonym"
                },
                {
                    "name": "CD2BP1L",
                    "type": "synonym"
                },
                {
                    "name": "CD2BP1S",
                    "type": "synonym"
                },
                {
                    "name": "CD2BP1",
                    "type": "synonym"
                },
                {
                    "name": "H-PIP",
                    "type": "synonym"
                },
                {
                    "name": "PAPAS",
                    "type": "synonym"
                },
                {
                    "name": "PAPA",
                    "type": "synonym"
                },
                {
                    "name": "PSTPIP1",
                    "type": "synonym"
                },
                {
                    "name": "PSTPIP",
                    "type": "synonym"
                }
            ],
            "record_id": "O43586-1",
            "evidence": [
                {
                    "id": "601979",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601979"
                },
                {
                    "id": "0061185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061185"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43556-1",
            "uniprot_ac": "P43556",
            "uniprot_id": "RGD2_YEAST",
            "refseq_ac": "NP_428268",
            "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": "Rho-GTPase-activating protein RGD2",
                    "type": "recommended"
                },
                {
                    "name": "GTPase-activating protein RGD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RGD2",
                    "type": "recommended"
                },
                {
                    "name": "RGD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43556-1",
            "evidence": [
                {
                    "id": "0061185",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061185"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061185"
}