{
    "disease_id": "DOID:0070748",
    "recommended_name": {
        "id": "DOID:0070748",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070748",
        "name": "joint laxity, short stature, and myopia",
        "description": "A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070748",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070748",
            "name": "JLSM",
            "description": ""
        },
        {
            "id": "MONDO:0060556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060556",
            "name": "joint laxity, short stature, and myopia",
            "description": ""
        },
        {
            "id": "MONDO:0060556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060556",
            "name": "joint laxity, short stature, and myopia",
            "description": ""
        },
        {
            "id": "MONDO:0060556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060556",
            "name": "JLSM",
            "description": ""
        },
        {
            "id": "MIM:617662",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617662",
            "name": "Joint laxity, short stature, and myopia",
            "description": "Joint laxity, short stature, and myopia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070748"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070748",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070748",
            "categories": []
        },
        {
            "id": "MONDO:0060556",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060556",
            "categories": []
        },
        {
            "id": "MIM:617662",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617662",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H116-1",
            "uniprot_ac": "Q9H116",
            "uniprot_id": "GZF1_HUMAN",
            "refseq_ac": "NP_001303941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDNF-inducible zinc finger protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GDNF-inducible zinc finger protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger and BTB domain-containing protein 23",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 336",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 23",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 336",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GZF1",
                    "type": "recommended"
                },
                {
                    "name": "GZF1",
                    "type": "synonym"
                },
                {
                    "name": "JLSM",
                    "type": "synonym"
                },
                {
                    "name": "ZBTB23",
                    "type": "synonym"
                },
                {
                    "name": "ZNF336",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H116-1",
            "evidence": [
                {
                    "id": "617662",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617662"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070748"
}