{
    "disease_id": "DOID:0060288",
    "recommended_name": {
        "id": "DOID:0060288",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060288",
        "name": "omodysplasia",
        "description": "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism."
    },
    "synonyms": [
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "autosomal recessive omodysplasia",
            "description": "Autosomal recessive form of omodysplasia."
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "autosomal recessive omodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia-dislocation of radius syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "OMOD1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia congenita with dislocation of radius",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia generalised form",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia generalized form",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia, generalised form",
            "description": ""
        },
        {
            "id": "MIM:258315",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258315",
            "name": "Omodysplasia 1",
            "description": "Omodysplasia 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080844",
            "label": "omodysplasia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080845",
            "label": "omodysplasia 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060288",
        "DOID:0080845",
        "DOID:0080844"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060288",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060288",
            "categories": []
        },
        {
            "id": "MONDO:0009779",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "categories": []
        },
        {
            "id": "MIM:258315",
            "database": "MIM",
            "url": "https://www.omim.org/entry/258315",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y625-1",
            "uniprot_ac": "Q9Y625",
            "uniprot_id": "GPC6_HUMAN",
            "refseq_ac": "NP_005699",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-6",
                    "type": "recommended"
                },
                {
                    "name": "glypican proteoglycan 6",
                    "type": "synonym"
                },
                {
                    "name": "glypican-6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPC6",
                    "type": "recommended"
                },
                {
                    "name": "GPC6",
                    "type": "synonym"
                },
                {
                    "name": "OMIMD1",
                    "type": "synonym"
                },
                {
                    "name": "PRO705",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y625-1",
            "evidence": [
                {
                    "id": "258315",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/258315"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060288"
}