{
    "disease_id": "DOID:0060490",
    "recommended_name": {
        "id": "DOID:0060490",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060490",
        "name": "Schimke immuno-osseous dysplasia",
        "description": "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "Schimke immunoosseous dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "Schimke syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "immunoosseous dysplasia Schimke type",
            "description": ""
        },
        {
            "id": "DOID:0060490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "name": "spondyloepiphyseal dysplasia - nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke immuno-osseous dysplasia",
            "description": "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke immuno-osseous dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke immunoosseous dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "Schimke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "spondyloepiphyseal dysplasia - nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "spondyloepiphyseal dysplasia-nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "SIOD",
            "description": ""
        },
        {
            "id": "MONDO:0009458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "name": "spondyloepiphyseal dysplasia nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MIM:242900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242900",
            "name": "Schimke immuno-osseous dysplasia",
            "description": "Schimke immuno-osseous dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060490"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060490",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060490",
            "categories": []
        },
        {
            "id": "MONDO:0009458",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009458",
            "categories": []
        },
        {
            "id": "MIM:242900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/242900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B2ZFP3-1",
            "uniprot_ac": "B2ZFP3",
            "uniprot_id": "SMAL1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HepA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smarcal1",
                    "type": "recommended"
                },
                {
                    "name": "harp",
                    "type": "synonym"
                },
                {
                    "name": "im:7145331",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-239d11.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B2ZFP3-1",
            "evidence": [
                {
                    "id": "0060490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJL0-1",
            "uniprot_ac": "Q8BJL0",
            "uniprot_id": "SMAL1_MOUSE",
            "refseq_ac": "NP_061287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1",
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                },
                {
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                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "HepA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "hepA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "mharp",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarcal1",
                    "type": "recommended"
                },
                {
                    "name": "6030401P21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Harp",
                    "type": "synonym"
                },
                {
                    "name": "Mharp",
                    "type": "synonym"
                },
                {
                    "name": "Smarcal1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJL0-1",
            "evidence": [
                {
                    "id": "0060490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZC9-1",
            "uniprot_ac": "Q9NZC9",
            "uniprot_id": "SMAL1_HUMAN",
            "refseq_ac": "NP_001120679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-driven annealing helicase",
                    "type": "synonym"
                },
                {
                    "name": "HepA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "hHARP",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCAL1",
                    "type": "recommended"
                },
                {
                    "name": "HARP",
                    "type": "synonym"
                },
                {
                    "name": "HHARP",
                    "type": "synonym"
                },
                {
                    "name": "SMARCAL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZC9-1",
            "evidence": [
                {
                    "id": "242900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/242900"
                },
                {
                    "id": "0060490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B4F769-1",
            "uniprot_ac": "B4F769",
            "uniprot_id": "SMAL1_RAT",
            "refseq_ac": "NP_001101692",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HepA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "SNF2 related chromatin remodeling annealing helicase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1",
                    "type": "synonym"
                },
                {
                    "name": "hepA-related protein",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting protein 2-like 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Smarcal1",
                    "type": "recommended"
                },
                {
                    "name": "Harp",
                    "type": "synonym"
                },
                {
                    "name": "Smarcal1",
                    "type": "synonym"
                }
            ],
            "record_id": "B4F769-1",
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                {
                    "id": "0060490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMX6-1",
            "uniprot_ac": "Q9VMX6",
            "uniprot_id": "SMAL1_DROME",
            "refseq_ac": "NP_608883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3753-PA",
                    "type": "synonym"
                },
                {
                    "name": "Marcal1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Marcal1",
                    "type": "synonym"
                },
                {
                    "name": "dsmarcal1",
                    "type": "synonym"
                },
                {
                    "name": "hepA-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Marcal1",
                    "type": "recommended"
                },
                {
                    "name": "CG3753",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3753",
                    "type": "synonym"
                },
                {
                    "name": "HARP",
                    "type": "synonym"
                },
                {
                    "name": "MARCAL1",
                    "type": "synonym"
                },
                {
                    "name": "Marca1",
                    "type": "synonym"
                },
                {
                    "name": "Marcal1",
                    "type": "synonym"
                },
                {
                    "name": "dmHARP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMX6-1",
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                {
                    "id": "0060490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060490"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060490"
}