{
    "disease_id": "DOID:0070509",
    "recommended_name": {
        "id": "DOID:0070509",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070509",
        "name": "Schinzel Giedion syndrome",
        "description": "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070509",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070509",
            "name": "SGS",
            "description": ""
        },
        {
            "id": "DOID:0070509",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070509",
            "name": "Schinzel-Giedion midface retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel-Giedion syndrome",
            "description": "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "SGS",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel Giedion Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel-Giedion midface-retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel-Giedion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel Giedion midface-retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel Giedion syndrome",
            "description": ""
        },
        {
            "id": "MIM:269150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269150",
            "name": "Schinzel-Giedion midface retraction syndrome",
            "description": "Schinzel-Giedion midface retraction syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070509"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070509",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070509",
            "categories": []
        },
        {
            "id": "MONDO:0010010",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "categories": []
        },
        {
            "id": "MIM:269150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/269150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6S3-1",
            "uniprot_ac": "A0ACD6B6S3",
            "uniprot_id": "A0ACD6B6S3_DANRE",
            "refseq_ac": "XP_005165732",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "setbp1",
                    "type": "recommended"
                },
                {
                    "name": "setbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6S3-1",
            "evidence": [
                {
                    "id": "0070509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z180-1",
            "uniprot_ac": "Q9Z180",
            "uniprot_id": "SETBP_MOUSE",
            "refseq_ac": "NP_444329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "SEB",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setbp1",
                    "type": "recommended"
                },
                {
                    "name": "C130092E12",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0437",
                    "type": "synonym"
                },
                {
                    "name": "Seb",
                    "type": "synonym"
                },
                {
                    "name": "Setbp1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0437",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z180-1",
            "evidence": [
                {
                    "id": "0070509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6X0-1",
            "uniprot_ac": "Q9Y6X0",
            "uniprot_id": "SETBP_HUMAN",
            "refseq_ac": "NP_001123582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "SEB",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SETBP1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0437",
                    "type": "synonym"
                },
                {
                    "name": "MRD29",
                    "type": "synonym"
                },
                {
                    "name": "SEB",
                    "type": "synonym"
                },
                {
                    "name": "SETBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6X0-1",
            "evidence": [
                {
                    "id": "269150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/269150"
                },
                {
                    "id": "0070509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A7F2-1",
            "uniprot_ac": "A0A8I6A7F2",
            "uniprot_id": "A0A8I6A7F2_RAT",
            "refseq_ac": "NP_001414555",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setbp1",
                    "type": "recommended"
                },
                {
                    "name": "Setbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A7F2-1",
            "evidence": [
                {
                    "id": "0070509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070509"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070509"
}