{
    "disease_id": "DOID:0110337",
    "recommended_name": {
        "id": "DOID:0110337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110337",
        "name": "osteogenesis imperfecta type 7",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110337",
            "name": "OI7",
            "description": ""
        },
        {
            "id": "DOID:0110337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110337",
            "name": "osteogenesis imperfecta type VII",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "osteogenesis imperfecta type 7",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene."
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "CRTAP osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "OI7",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "osteogenesis imperfecta caused by mutation in CRTAP",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "osteogenesis imperfecta type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "OI type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "OI type VII",
            "description": ""
        },
        {
            "id": "MONDO:0012536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "name": "osteogenesis imperfecta, type VII",
            "description": ""
        },
        {
            "id": "MIM:610682",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610682",
            "name": "Osteogenesis imperfecta 7",
            "description": "Osteogenesis imperfecta 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110337"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110337",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110337",
            "categories": []
        },
        {
            "id": "MONDO:0012536",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012536",
            "categories": []
        },
        {
            "id": "MIM:610682",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610682",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CYD3-1",
            "uniprot_ac": "Q9CYD3",
            "uniprot_id": "CRTAP_MOUSE",
            "refseq_ac": "NP_064306",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "cartilage-associated protein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crtap",
                    "type": "recommended"
                },
                {
                    "name": "5730529N23Rik",
                    "type": "synonym"
                },
                {
                    "name": "CASP",
                    "type": "synonym"
                },
                {
                    "name": "Casp",
                    "type": "synonym"
                },
                {
                    "name": "Crtap",
                    "type": "synonym"
                },
                {
                    "name": "Leprel3",
                    "type": "synonym"
                },
                {
                    "name": "P3h5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CYD3-1",
            "evidence": [
                {
                    "id": "0110337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75718-1",
            "uniprot_ac": "O75718",
            "uniprot_id": "CRTAP_HUMAN",
            "refseq_ac": "NP_006362",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "cartilage-associated protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leprecan-like 3",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 3-hydroxylase family member 5 (non-enzymatic)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRTAP",
                    "type": "recommended"
                },
                {
                    "name": "CASP",
                    "type": "synonym"
                },
                {
                    "name": "CRTAP",
                    "type": "synonym"
                },
                {
                    "name": "LEPREL3",
                    "type": "synonym"
                },
                {
                    "name": "OI7",
                    "type": "synonym"
                },
                {
                    "name": "P3H5",
                    "type": "synonym"
                }
            ],
            "record_id": "O75718-1",
            "evidence": [
                {
                    "id": "610682",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610682"
                },
                {
                    "id": "0110337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MK61-1",
            "uniprot_ac": "A0A096MK61",
            "uniprot_id": "A0A096MK61_RAT",
            "refseq_ac": "NP_001388132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage associated protein",
                    "type": "synonym"
                },
                {
                    "name": "cartilage associated protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-associated protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-associated protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crtap",
                    "type": "recommended"
                },
                {
                    "name": "Crtapl1",
                    "type": "synonym"
                },
                {
                    "name": "Crtap",
                    "type": "synonym"
                },
                {
                    "name": "LOC102555086",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565180",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MK61-1",
            "evidence": [
                {
                    "id": "0110337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22734-1",
            "uniprot_ac": "P22734",
            "uniprot_id": "COMT_RAT",
            "refseq_ac": "NP_036663",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catechol O-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "catechol O-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "catecholamine-O-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Comt",
                    "type": "recommended"
                },
                {
                    "name": "Comt",
                    "type": "synonym"
                }
            ],
            "record_id": "P22734-1",
            "evidence": [
                {
                    "id": "0110337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110337"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110337"
}