{
    "disease_id": "DOID:0061276",
    "recommended_name": {
        "id": "DOID:0061276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061276",
        "name": "Weill-Marchesani syndrome 4",
        "description": "A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the ADAMTS17 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "Weill-Marchesani 4 syndrome, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "15q26.3 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "WMS4",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "Weill-Marchesani syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "Weill-Marchesani-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "ichthyosis-short stature-brachydactyly-microspherophakia syndrome",
            "description": ""
        },
        {
            "id": "MIM:613195",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613195",
            "name": "Weill-Marchesani syndrome 4",
            "description": "Weill-Marchesani syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061276"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061276",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061276",
            "categories": []
        },
        {
            "id": "MONDO:0013176",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "categories": []
        },
        {
            "id": "MIM:613195",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613195",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8TE56-1",
            "uniprot_ac": "Q8TE56",
            "uniprot_id": "ATS17_HUMAN",
            "refseq_ac": "NP_620688",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 17",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 17 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS 17",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS17",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-17",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin motifs 17",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAMTS17",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTS17",
                    "type": "synonym"
                },
                {
                    "name": "WMS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TE56-1",
            "evidence": [
                {
                    "id": "613195",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613195"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061276"
}