{
    "disease_id": "DOID:0080043",
    "recommended_name": {
        "id": "DOID:0080043",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080043",
        "name": "achondrogenesis",
        "description": "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period."
    },
    "synonyms": [
        {
            "id": "MONDO:0008701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008701",
            "name": "achondrogenesis type IA",
            "description": "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage."
        },
        {
            "id": "MONDO:0008701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008701",
            "name": "achondrogenesis, Houston-Harris type",
            "description": ""
        },
        {
            "id": "MONDO:0008701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008701",
            "name": "ACG1A",
            "description": ""
        },
        {
            "id": "MONDO:0008701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008701",
            "name": "Houston-Harris achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008701",
            "name": "achondrogenesis, type IA",
            "description": ""
        },
        {
            "id": "MIM:200600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200600",
            "name": "Achondrogenesis 1A",
            "description": "Achondrogenesis 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0080054",
            "label": "achondrogenesis type IA",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080055",
            "label": "achondrogenesis type IB",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080056",
            "label": "achondrogenesis type II",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080054",
        "DOID:0080043",
        "DOID:0080056",
        "DOID:0080055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080043",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080043",
            "categories": []
        },
        {
            "id": "MONDO:0008701",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008701",
            "categories": []
        },
        {
            "id": "MIM:200600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/200600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15643-1",
            "uniprot_ac": "Q15643",
            "uniprot_id": "TRIPB_HUMAN",
            "refseq_ac": "NP_004230",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid receptor-interacting protein 11",
                    "type": "recommended"
                },
                {
                    "name": "Clonal evolution-related gene on chromosome 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "GMAP-210",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-associated microtubule-binding protein 210",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-microtubule-associated protein of 210 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 11",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-11",
                    "type": "synonym"
                },
                {
                    "name": "Trip230",
                    "type": "synonym"
                },
                {
                    "name": "clonal evolution-related gene on chromosome 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "golgi-associated microtubule-binding protein 210",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 11 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIP11",
                    "type": "recommended"
                },
                {
                    "name": "ACG1A",
                    "type": "synonym"
                },
                {
                    "name": "CEV14",
                    "type": "synonym"
                },
                {
                    "name": "GMAP-210",
                    "type": "synonym"
                },
                {
                    "name": "GMAP210",
                    "type": "synonym"
                },
                {
                    "name": "ODCD1",
                    "type": "synonym"
                },
                {
                    "name": "ODCD",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-11",
                    "type": "synonym"
                },
                {
                    "name": "TRIP11",
                    "type": "synonym"
                },
                {
                    "name": "TRIP230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15643-1",
            "evidence": [
                {
                    "id": "0008701",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008701"
                },
                {
                    "id": "200600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/200600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080043"
}