{
    "disease_id": "DOID:0090005",
    "recommended_name": {
        "id": "DOID:0090005",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090005",
        "name": "Schwartz-Jampel syndrome 1",
        "description": "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36."
    },
    "synonyms": [
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            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Aberfeld syndrome",
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        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
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            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Burton syndrome",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Catel-Hempel syndrome",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Schwartz-Jampel syndrome type 1",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Schwartz-Jampel-Aberfeld syndrome",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Catel-Hempel type dysostosis enchondralis metaepiphysaria",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
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            "description": ""
        },
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            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "osteochondromuscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "Schwartz-Jampel syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "SJA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
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            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
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            "name": "Schwartz-Jampel syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "Schwartz-Jampel syndrome, type 1",
            "description": ""
        },
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            "url": "https://www.omim.org/entry/255800",
            "name": "Schwartz-Jampel syndrome",
            "description": "Schwartz-Jampel syndrome"
        }
    ],
    "children": [],
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    "unlinked_id_list": [],
    "crossref": [
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            "id": "DOID:0090005",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "categories": []
        },
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            "categories": []
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            "uniprot_ac": "A0A8M9PWV8",
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                }
            ],
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "name": "basement membrane-specific heparan sulfate proteoglycan core protein",
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                    "name": "endorepellin (domain V region)",
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                {
                    "name": "perlecan proteoglycan",
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            ],
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                    "name": "PLC",
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                    "name": "PRCAN",
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            "uniprot_ac": "A0A8I6ASH2",
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            "refseq_ac": "",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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            ],
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                    "name": "Basement membrane-specific heparan sulfate proteoglycan core protein",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
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                {
                    "name": "CG33950-PBD",
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                {
                    "name": "Terribly reduced optic lobes, isoform BD",
                    "type": "synonym"
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                    "name": "Trol/perlecan",
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                    "name": "dPerlecan",
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                    "name": "lethal (1) G0019",
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                    "name": "mRNA-like ncRNA in embryogenesis 7",
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                    "name": "CG33675",
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                    "name": "CG7981",
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                    "name": "MRE7",
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                    "name": "anon-WO0153538.72",
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                    "name": "l(1)VA51",
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                    "id": "0090005",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090005"
}