{
    "disease_id": "DOID:0080054",
    "recommended_name": {
        "id": "DOID:0080054",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080054",
        "name": "achondrogenesis type IA",
        "description": "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine."
    },
    "synonyms": [
        {
            "id": "DOID:0080054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080054",
            "name": "achondrogenesis Houston-Harris type",
            "description": ""
        },
        {
            "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_list": [
        "DOID:0080054"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080054",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080054",
            "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": "A0A8M1P007-1",
            "uniprot_ac": "A0A8M1P007",
            "uniprot_id": "A0A8M1P007_DANRE",
            "refseq_ac": "NP_001265632",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid receptor-interacting protein 11",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 11-like",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trip11",
                    "type": "recommended"
                },
                {
                    "name": "cb423",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb423",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb721",
                    "type": "synonym"
                },
                {
                    "name": "trip11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb71d07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P007-1",
            "evidence": [
                {
                    "id": "0080054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q512-1",
            "uniprot_ac": "E9Q512",
            "uniprot_id": "E9Q512_MOUSE",
            "refseq_ac": "NP_082722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor interactor 11",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trip11",
                    "type": "recommended"
                },
                {
                    "name": "2610511G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110031G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "6030460N08Rik",
                    "type": "synonym"
                },
                {
                    "name": "GMAP-210",
                    "type": "synonym"
                },
                {
                    "name": "TRIP230",
                    "type": "synonym"
                },
                {
                    "name": "Trip11",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q512-1",
            "evidence": [
                {
                    "id": "0080054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080054"
                }
            ]
        },
        {
            "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": "200600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/200600"
                },
                {
                    "id": "0080054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZKA2-1",
            "uniprot_ac": "A0A8I5ZKA2",
            "uniprot_id": "A0A8I5ZKA2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroid hormone receptor interactor 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trip11",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZKA2-1",
            "evidence": [
                {
                    "id": "0080054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A4D6K5M0-1",
            "uniprot_ac": "A0A4D6K5M0",
            "uniprot_id": "A0A4D6K5M0_DROME",
            "refseq_ac": "NP_001356946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33206-PD",
                    "type": "synonym"
                },
                {
                    "name": "Gmap-PD",
                    "type": "synonym"
                },
                {
                    "name": "Golgi microtubule-associated protein, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "golgi microtuble Assoc. Prot, C",
                    "type": "synonym"
                },
                {
                    "name": "golgi microtubule-associated protein, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0168",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gmap",
                    "type": "recommended"
                },
                {
                    "name": "CG32587",
                    "type": "synonym"
                },
                {
                    "name": "CG33206",
                    "type": "synonym"
                },
                {
                    "name": "CG6350",
                    "type": "synonym"
                },
                {
                    "name": "CG7821",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33206",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33206",
                    "type": "synonym"
                },
                {
                    "name": "GMAP-210",
                    "type": "synonym"
                },
                {
                    "name": "GMAP210",
                    "type": "synonym"
                },
                {
                    "name": "GMAP",
                    "type": "synonym"
                },
                {
                    "name": "Gmap",
                    "type": "synonym"
                },
                {
                    "name": "dGMAP",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0168",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A4D6K5M0-1",
            "evidence": [
                {
                    "id": "0080054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080054"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080054"
}