{
    "disease_id": "DOID:0080021",
    "recommended_name": {
        "id": "DOID:0080021",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080021",
        "name": "Schmid metaphyseal chondrodysplasia",
        "description": "A metaphyseal dysplasia that results_in dwarfism and bowed legs."
    },
    "synonyms": [
        {
            "id": "DOID:0080021",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080021",
            "name": "Japanese type spondylometaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0080021",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080021",
            "name": "Schmid type metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "name": "Schmid metaphyseal chondrodysplasia",
            "description": "A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait."
        },
        {
            "id": "MONDO:0007983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "name": "MCDS",
            "description": ""
        },
        {
            "id": "MONDO:0007983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "name": "Metaphyseal Chondrodysplasia, Schmid Type",
            "description": ""
        },
        {
            "id": "MONDO:0007983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "name": "metaphyseal chondrodysplasia Schmid type",
            "description": ""
        },
        {
            "id": "MONDO:0007983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "name": "metaphyseal chondrodysplasia, Schmid type",
            "description": ""
        },
        {
            "id": "MONDO:0007983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "name": "spondylometaphyseal dysplasia, Japanese type",
            "description": ""
        },
        {
            "id": "MIM:156500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156500",
            "name": "Schmid type metaphyseal chondrodysplasia",
            "description": "Schmid type metaphyseal chondrodysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080021"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080021",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080021",
            "categories": []
        },
        {
            "id": "MONDO:0007983",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007983",
            "categories": []
        },
        {
            "id": "MIM:156500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/156500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2RQR3-1",
            "uniprot_ac": "A2RQR3",
            "uniprot_id": "A2RQR3_DANRE",
            "refseq_ac": "NP_001077296",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen, type X, alpha 1a precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type X, alpha 1a precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type X, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col10a1a",
                    "type": "recommended"
                },
                {
                    "name": "col10a1a",
                    "type": "synonym"
                },
                {
                    "name": "col10a1",
                    "type": "synonym"
                },
                {
                    "name": "fa66d11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa66d11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb10c08",
                    "type": "synonym"
                }
            ],
            "record_id": "A2RQR3-1",
            "evidence": [
                {
                    "id": "0080021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B7A9-1",
            "uniprot_ac": "A0ACD6B7A9",
            "uniprot_id": "A0ACD6B7A9_DANRE",
            "refseq_ac": "XP_683515",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(X) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(X) chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col10a1b",
                    "type": "recommended"
                },
                {
                    "name": "col10a1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7A9-1",
            "evidence": [
                {
                    "id": "0080021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05306-1",
            "uniprot_ac": "Q05306",
            "uniprot_id": "COAA1_MOUSE",
            "refseq_ac": "NP_034055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(X) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-1(X) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(X) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type X, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col10a1",
                    "type": "recommended"
                },
                {
                    "name": "Col10a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col10a1",
                    "type": "synonym"
                },
                {
                    "name": "Col10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05306-1",
            "evidence": [
                {
                    "id": "0080021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03692-1",
            "uniprot_ac": "Q03692",
            "uniprot_id": "COAA1_HUMAN",
            "refseq_ac": "NP_000484",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(X) chain",
                    "type": "recommended"
                },
                {
                    "name": "Schmid metaphyseal chondrodysplasia",
                    "type": "synonym"
                },
                {
                    "name": "collagen X, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(X) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(X) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type X, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL10A1",
                    "type": "recommended"
                },
                {
                    "name": "COL10A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03692-1",
            "evidence": [
                {
                    "id": "156500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/156500"
                },
                {
                    "id": "0080021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7A5-1",
            "uniprot_ac": "A0A0G2K7A5",
            "uniprot_id": "A0A0G2K7A5_RAT",
            "refseq_ac": "NP_037272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen type X alpha 1 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(X) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(X) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type X, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type X, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col10a1",
                    "type": "recommended"
                },
                {
                    "name": "Col10a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7A5-1",
            "evidence": [
                {
                    "id": "0080021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30560-1",
            "uniprot_ac": "P30560",
            "uniprot_id": "V1AR_RAT",
            "refseq_ac": "NP_444178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vasopressin V1a receptor",
                    "type": "recommended"
                },
                {
                    "name": "AVPR V1a",
                    "type": "synonym"
                },
                {
                    "name": "Antidiuretic hormone receptor 1a",
                    "type": "synonym"
                },
                {
                    "name": "V1aR",
                    "type": "synonym"
                },
                {
                    "name": "Vascular/hepatic-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "antidiuretic hormone receptor 1a",
                    "type": "synonym"
                },
                {
                    "name": "arginine vasopressin receptor V1a",
                    "type": "synonym"
                },
                {
                    "name": "vascular/hepatic-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V1a receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Avpr1a",
                    "type": "recommended"
                },
                {
                    "name": "AVPR",
                    "type": "synonym"
                },
                {
                    "name": "Avpr1a",
                    "type": "synonym"
                },
                {
                    "name": "V1aR",
                    "type": "synonym"
                },
                {
                    "name": "V1a",
                    "type": "synonym"
                }
            ],
            "record_id": "P30560-1",
            "evidence": [
                {
                    "id": "0080021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080021"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080021"
}