{
    "disease_id": "DOID:0050475",
    "recommended_name": {
        "id": "DOID:0050475",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050475",
        "name": "Weill-Marchesani syndrome",
        "description": "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities."
    },
    "synonyms": [
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050475",
            "name": "GEMSS syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050475",
            "name": "Marchesani-Weill Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050475",
            "name": "Mesodermal Dysmorphodystrophy, Congenital",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050475",
            "name": "Spherophakia Brachymorphia Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050475",
            "name": "congenital mesodermal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome 1",
            "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene."
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "ADAMTS10 Weill-Marchesani syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome 1, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome caused by mutation in ADAMTS10",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "WMS1",
            "description": ""
        },
        {
            "id": "MIM:277600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277600",
            "name": "Weill-Marchesani syndrome 1",
            "description": "Weill-Marchesani syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061273",
            "label": "Weill-Marchesani syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061274",
            "label": "Weill-Marchesani syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061275",
            "label": "Weill-Marchesani syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061276",
            "label": "Weill-Marchesani syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0050475",
        "DOID:0061274",
        "DOID:0061273",
        "DOID:0061275",
        "DOID:0061276"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050475",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050475",
            "categories": []
        },
        {
            "id": "MONDO:0010194",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "categories": []
        },
        {
            "id": "MIM:277600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277600",
            "categories": []
        }
    ],
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            "uniprot_canonical_ac": "A0A8M1NG56-1",
            "uniprot_ac": "A0A8M1NG56",
            "uniprot_id": "A0A8M1NG56_DANRE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "adamts10",
                    "type": "recommended"
                },
                {
                    "name": "adamts10",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-45m5.4",
                    "type": "synonym"
                }
            ],
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                    "id": "0050475",
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                }
            ]
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                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphotoxin-alpha",
                    "type": "recommended"
                },
                {
                    "name": "TNF alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TNF2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor",
                    "type": "synonym"
                },
                {
                    "name": "lta",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor (TNF superfamily, member 2)",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor alpha",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor b (TNF superfamily, member 2)",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tnfb",
                    "type": "recommended"
                },
                {
                    "name": "Tnf-alpha",
                    "type": "synonym"
                },
                {
                    "name": "tnfa-like",
                    "type": "synonym"
                },
                {
                    "name": "tnfb",
                    "type": "synonym"
                },
                {
                    "name": "tnf",
                    "type": "synonym"
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            ],
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                {
                    "id": "0050475",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050475"
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            ]
        },
        {
            "uniprot_canonical_ac": "P58459-1",
            "uniprot_ac": "P58459",
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            "refseq_ac": "NP_766207",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 1 preproprotein",
                    "type": "synonym"
                },
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                    "name": "ADAM-TS 10",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS10",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-10",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin motifs 10",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 10",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10",
                    "type": "synonym"
                },
                {
                    "name": "zinc metalloendopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamts10",
                    "type": "recommended"
                },
                {
                    "name": "9430006O18",
                    "type": "synonym"
                },
                {
                    "name": "Adam-ts10",
                    "type": "synonym"
                },
                {
                    "name": "Adamts-10",
                    "type": "synonym"
                },
                {
                    "name": "Adamts10",
                    "type": "synonym"
                },
                {
                    "name": "Znmp",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050475",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050475"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3YX90-1",
            "uniprot_ac": "D3YX90",
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            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 17",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS 17",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS17",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamts17",
                    "type": "recommended"
                }
            ],
            "record_id": "D3YX90-1",
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                {
                    "id": "0050475",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050475"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61554-1",
            "uniprot_ac": "Q61554",
            "uniprot_id": "FBN1_MOUSE",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "tight skin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn1",
                    "type": "recommended"
                },
                {
                    "name": "B430209H23",
                    "type": "synonym"
                },
                {
                    "name": "Fbn-1",
                    "type": "synonym"
                },
                {
                    "name": "Fbn1",
                    "type": "synonym"
                },
                {
                    "name": "Fib-1",
                    "type": "synonym"
                },
                {
                    "name": "Tsk",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050475",
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            ]
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        {
            "uniprot_canonical_ac": "O08999-1",
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                    "name": "Mus musculus",
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                }
            ],
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                {
                    "name": "Latent-transforming growth factor beta-binding protein 2",
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                {
                    "name": "latent-transforming growth factor beta-binding protein 2 isoform 2 precursor",
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                }
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                {
                    "name": "Ltbp2",
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                    "id": "0050475",
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            ]
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            "uniprot_canonical_ac": "P06804-1",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Tumor necrosis factor",
                    "type": "recommended"
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                {
                    "name": "Cachectin",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "NTF",
                    "type": "synonym"
                },
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                    "name": "TNF-alpha",
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                {
                    "name": "TNF-a",
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                {
                    "name": "Tumor necrosis factor ligand superfamily member 2",
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                    "name": "tumor necrosis factor isoform 2",
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                    "name": "tumor necrosis factor ligand 1f",
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                {
                    "name": "tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor-alpha",
                    "type": "synonym"
                }
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                    "name": "Tnf",
                    "type": "recommended"
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                    "name": "DIF",
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                    "name": "TNF-alpha",
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                    "name": "TNFSF2",
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                {
                    "name": "TNFalpha",
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                    "name": "Tnfa",
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                    "name": "Tnfsf1a",
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                    "name": "Tnfsf2",
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                    "name": "Tnf",
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                    "name": "Tnlg1f",
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                    "id": "0050475",
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                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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            ],
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                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10",
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                },
                {
                    "name": "3.4.24.-",
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                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2",
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                    "name": "ADAM-TS 10",
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                    "name": "ADAM-TS10",
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                    "name": "ADAMTS-10",
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                    "name": "ADAMTS10",
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                    "name": "ADAMTS-10",
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                    "name": "ADAMTS10",
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                    "id": "0050475",
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                }
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                    "name": "Rattus norvegicus",
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                }
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                    "name": "ADAM metallopeptidase with thrombospondin type 1 motif, 17",
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                    "name": "Adamts17",
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                    "id": "0050475",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050475"
                }
            ]
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            "uniprot_canonical_ac": "A0A0G2K229-1",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10",
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                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10 precursor",
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                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 10",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10",
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                },
                {
                    "name": "a disintegrin-like and metalloprotease with thrombospondin type 1 motif, 10",
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                }
            ],
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                    "name": "Adamts10",
                    "type": "recommended"
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                {
                    "name": "Adamts10",
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                {
                    "id": "0050475",
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                }
            ]
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        {
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}
