{
    "disease_id": "DOID:0111543",
    "recommended_name": {
        "id": "DOID:0111543",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111543",
        "name": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome",
        "description": "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111543",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111543",
            "name": "JP-HHT",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
            "description": "An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias."
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "JPHT",
            "description": ""
        },
        {
            "id": "MONDO:0008278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "name": "polyposis, generalised juvenile, with pulmonary arteriovenous malformation",
            "description": ""
        },
        {
            "id": "MIM:175050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/175050",
            "name": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
            "description": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111543"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111543",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111543",
            "categories": []
        },
        {
            "id": "MONDO:0008278",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008278",
            "categories": []
        },
        {
            "id": "MIM:175050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/175050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z2Y5-1",
            "uniprot_ac": "A0A8M6Z2Y5",
            "uniprot_id": "A0A8M6Z2Y5_DANRE",
            "refseq_ac": "XP_017213465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mothers against decapentaplegic homolog",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 4a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smad4a",
                    "type": "recommended"
                },
                {
                    "name": "madh4",
                    "type": "synonym"
                },
                {
                    "name": "smad4a",
                    "type": "synonym"
                },
                {
                    "name": "smad4",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000768",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z2Y5-1",
            "evidence": [
                {
                    "id": "0111543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97471-1",
            "uniprot_ac": "P97471",
            "uniprot_id": "SMAD4_MOUSE",
            "refseq_ac": "NP_032566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 4",
                    "type": "recommended"
                },
                {
                    "name": "Deletion target in pancreatic carcinoma 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 4",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "deletion target in pancreatic carcinoma 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad4",
                    "type": "recommended"
                },
                {
                    "name": "D18Wsu70e",
                    "type": "synonym"
                },
                {
                    "name": "DPC4",
                    "type": "synonym"
                },
                {
                    "name": "Dpc4",
                    "type": "synonym"
                },
                {
                    "name": "Madh4",
                    "type": "synonym"
                },
                {
                    "name": "Smad4",
                    "type": "synonym"
                }
            ],
            "record_id": "P97471-1",
            "evidence": [
                {
                    "id": "0111543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13485-1",
            "uniprot_ac": "Q13485",
            "uniprot_id": "SMAD4_HUMAN",
            "refseq_ac": "NP_005350",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 4",
                    "type": "recommended"
                },
                {
                    "name": "Deletion target in pancreatic carcinoma 4",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 4",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "SMAD, mothers against DPP homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "deleted in pancreatic carcinoma locus 4",
                    "type": "synonym"
                },
                {
                    "name": "deletion target in pancreatic carcinoma 4",
                    "type": "synonym"
                },
                {
                    "name": "hSMAD4",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic, Drosophila, homolog of, 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMAD4",
                    "type": "recommended"
                },
                {
                    "name": "DPC4",
                    "type": "synonym"
                },
                {
                    "name": "JIP",
                    "type": "synonym"
                },
                {
                    "name": "MADH4",
                    "type": "synonym"
                },
                {
                    "name": "MYHRS",
                    "type": "synonym"
                },
                {
                    "name": "SMAD4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13485-1",
            "evidence": [
                {
                    "id": "175050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/175050"
                },
                {
                    "id": "0111543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70437-1",
            "uniprot_ac": "O70437",
            "uniprot_id": "SMAD4_RAT",
            "refseq_ac": "NP_062148",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 4",
                    "type": "recommended"
                },
                {
                    "name": "MAD (mothers against decapentaplegic Drosophila) homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 4",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 4",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad4",
                    "type": "recommended"
                },
                {
                    "name": "Madh4",
                    "type": "synonym"
                },
                {
                    "name": "Smad4",
                    "type": "synonym"
                }
            ],
            "record_id": "O70437-1",
            "evidence": [
                {
                    "id": "0111543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O62609-1",
            "uniprot_ac": "O62609",
            "uniprot_id": "SMAD4_DROME",
            "refseq_ac": "NP_524610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 4",
                    "type": "recommended"
                },
                {
                    "name": "CG1775-PA",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog",
                    "type": "synonym"
                },
                {
                    "name": "Med-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein medea",
                    "type": "synonym"
                },
                {
                    "name": "dSMAD4",
                    "type": "synonym"
                },
                {
                    "name": "demented",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)SG36",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)SG70",
                    "type": "synonym"
                },
                {
                    "name": "medea, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "medea",
                    "type": "synonym"
                },
                {
                    "name": "media",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med",
                    "type": "recommended"
                },
                {
                    "name": "3R16",
                    "type": "synonym"
                },
                {
                    "name": "CG1775",
                    "type": "synonym"
                },
                {
                    "name": "DMT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1775",
                    "type": "synonym"
                },
                {
                    "name": "E(zen)3",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "Med",
                    "type": "synonym"
                },
                {
                    "name": "SMAD4",
                    "type": "synonym"
                },
                {
                    "name": "Smad4",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey121",
                    "type": "synonym"
                },
                {
                    "name": "dSmad4",
                    "type": "synonym"
                },
                {
                    "name": "demented",
                    "type": "synonym"
                },
                {
                    "name": "l(3)11m-254",
                    "type": "synonym"
                },
                {
                    "name": "l(3)12m-137",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SG36",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SG70",
                    "type": "synonym"
                },
                {
                    "name": "l(3)XIIm137",
                    "type": "synonym"
                },
                {
                    "name": "medea",
                    "type": "synonym"
                },
                {
                    "name": "med",
                    "type": "synonym"
                },
                {
                    "name": "smad4",
                    "type": "synonym"
                }
            ],
            "record_id": "O62609-1",
            "evidence": [
                {
                    "id": "0111543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54259-1",
            "uniprot_ac": "P54259",
            "uniprot_id": "ATN1_HUMAN",
            "refseq_ac": "NP_001007027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrophin-1",
                    "type": "recommended"
                },
                {
                    "name": "Dentatorubral-pallidoluysian atrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "atrophin-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dentatorubral-pallidoluysian atrophy protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATN1",
                    "type": "recommended"
                },
                {
                    "name": "ATN1",
                    "type": "synonym"
                },
                {
                    "name": "B37",
                    "type": "synonym"
                },
                {
                    "name": "CHEDDA",
                    "type": "synonym"
                },
                {
                    "name": "D12S755E",
                    "type": "synonym"
                },
                {
                    "name": "DRPLA",
                    "type": "synonym"
                },
                {
                    "name": "HRS",
                    "type": "synonym"
                },
                {
                    "name": "NOD",
                    "type": "synonym"
                }
            ],
            "record_id": "P54259-1",
            "evidence": [
                {
                    "id": "0111543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111543"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111543"
}