{
    "disease_id": "DOID:0111685",
    "recommended_name": {
        "id": "DOID:0111685",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111685",
        "name": "hereditary mixed polyposis syndrome 1",
        "description": "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111685",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111685",
            "name": "CRAC1",
            "description": ""
        },
        {
            "id": "DOID:0111685",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111685",
            "name": "HMPS1",
            "description": ""
        },
        {
            "id": "DOID:0111685",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111685",
            "name": "chromosome 15q13-q14 duplication syndrome, 40-KB",
            "description": ""
        },
        {
            "id": "DOID:0111685",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111685",
            "name": "colorectal adenoma and carcinoma 1",
            "description": ""
        },
        {
            "id": "MONDO:0042486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042486",
            "name": "polyposis syndrome, hereditary mixed, 1",
            "description": ""
        },
        {
            "id": "MONDO:0042486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042486",
            "name": "polyposis syndrome, hereditary mixed 1",
            "description": ""
        },
        {
            "id": "MONDO:0042486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042486",
            "name": "polyposis syndrome, hereditary mixed, 1",
            "description": ""
        },
        {
            "id": "MONDO:0042486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042486",
            "name": "HMPS1",
            "description": ""
        },
        {
            "id": "MIM:601228",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601228",
            "name": "Polyposis syndrome, mixed hereditary 1",
            "description": "Polyposis syndrome, mixed hereditary 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111685"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111685",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111685",
            "categories": []
        },
        {
            "id": "MONDO:0042486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042486",
            "categories": []
        },
        {
            "id": "MIM:601228",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601228",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O60565-1",
            "uniprot_ac": "O60565",
            "uniprot_id": "GREM1_HUMAN",
            "refseq_ac": "NP_001178252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gremlin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cell proliferation-inducing gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine knot superfamily 1, BMP antagonist 1",
                    "type": "synonym"
                },
                {
                    "name": "DAN domain family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Down-regulated in Mos-transformed cells protein",
                    "type": "synonym"
                },
                {
                    "name": "IHG-2",
                    "type": "synonym"
                },
                {
                    "name": "Increased in high glucose protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "colorectal adenoma and carcinoma 1",
                    "type": "synonym"
                },
                {
                    "name": "cysteine knot superfamily 1, BMP antagonist 1",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in Mos-transformed cells protein",
                    "type": "synonym"
                },
                {
                    "name": "gremlin 1, cysteine knot superfamily, homolog",
                    "type": "synonym"
                },
                {
                    "name": "gremlin 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "gremlin-1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hereditary mixed polyposis syndrome",
                    "type": "synonym"
                },
                {
                    "name": "increased in high glucose-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GREM1",
                    "type": "recommended"
                },
                {
                    "name": "C15DUPq",
                    "type": "synonym"
                },
                {
                    "name": "CKTSF1B1",
                    "type": "synonym"
                },
                {
                    "name": "CRAC1",
                    "type": "synonym"
                },
                {
                    "name": "CRCS4",
                    "type": "synonym"
                },
                {
                    "name": "DAND2",
                    "type": "synonym"
                },
                {
                    "name": "DRM",
                    "type": "synonym"
                },
                {
                    "name": "DUP15q",
                    "type": "synonym"
                },
                {
                    "name": "GREM1",
                    "type": "synonym"
                },
                {
                    "name": "GREMLIN",
                    "type": "synonym"
                },
                {
                    "name": "HMPS1",
                    "type": "synonym"
                },
                {
                    "name": "HMPS",
                    "type": "synonym"
                },
                {
                    "name": "IHG-2",
                    "type": "synonym"
                },
                {
                    "name": "MPSH",
                    "type": "synonym"
                },
                {
                    "name": "PIG2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60565-1",
            "evidence": [
                {
                    "id": "601228",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601228"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111685"
}