{
    "disease_id": "DOID:0111020",
    "recommended_name": {
        "id": "DOID:0111020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111020",
        "name": "cone-rod dystrophy 9",
        "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "DOID:0111020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111020",
            "name": "CORD9",
            "description": ""
        },
        {
            "id": "MONDO:0013002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "name": "cone-rod dystrophy 9",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene."
        },
        {
            "id": "MONDO:0013002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "name": "ADAM9 cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "name": "CORD9",
            "description": ""
        },
        {
            "id": "MONDO:0013002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "name": "cone-rod dystrophy 9",
            "description": ""
        },
        {
            "id": "MONDO:0013002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "name": "cone-rod dystrophy caused by mutation in ADAM9",
            "description": ""
        },
        {
            "id": "MONDO:0013002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "name": "cone-rod dystrophy type 9",
            "description": ""
        },
        {
            "id": "MIM:612775",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612775",
            "name": "Cone-rod dystrophy 9",
            "description": "Cone-rod dystrophy 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111020",
            "categories": []
        },
        {
            "id": "MONDO:0013002",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013002",
            "categories": []
        },
        {
            "id": "MIM:612775",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612775",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61072-1",
            "uniprot_ac": "Q61072",
            "uniprot_id": "ADAM9_MOUSE",
            "refseq_ac": "NP_031430",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 9",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "ADAM 9",
                    "type": "synonym"
                },
                {
                    "name": "Meltrin-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Metalloprotease/disintegrin/cysteine-rich protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Myeloma cell metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metallopeptidase domain 9 (meltrin gamma)",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase domain 9 (meltrin gamma)",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 9 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "metalloprotease/disintegrin/cysteine-rich protein 9",
                    "type": "synonym"
                },
                {
                    "name": "myeloma cell metalloproteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adam9",
                    "type": "recommended"
                },
                {
                    "name": "Adam9",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0021",
                    "type": "synonym"
                },
                {
                    "name": "MDC9",
                    "type": "synonym"
                },
                {
                    "name": "Mdc9",
                    "type": "synonym"
                },
                {
                    "name": "Mltng",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0021",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61072-1",
            "evidence": [
                {
                    "id": "0111020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13443-1",
            "uniprot_ac": "Q13443",
            "uniprot_id": "ADAM9_HUMAN",
            "refseq_ac": "NP_003807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 9",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "ADAM 9",
                    "type": "synonym"
                },
                {
                    "name": "ADAM metallopeptidase domain 9 (meltrin gamma)",
                    "type": "synonym"
                },
                {
                    "name": "Cellular disintegrin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Meltrin-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Metalloprotease/disintegrin/cysteine-rich protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Myeloma cell metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "cellular disintegrin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "cone rod dystrophy 9",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "metalloprotease/disintegrin/cysteine-rich protein 9",
                    "type": "synonym"
                },
                {
                    "name": "myeloma cell metalloproteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAM9",
                    "type": "recommended"
                },
                {
                    "name": "ADAM9",
                    "type": "synonym"
                },
                {
                    "name": "CORD9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0021",
                    "type": "synonym"
                },
                {
                    "name": "MCMP",
                    "type": "synonym"
                },
                {
                    "name": "MDC9",
                    "type": "synonym"
                },
                {
                    "name": "MLTNG",
                    "type": "synonym"
                },
                {
                    "name": "Mltng",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13443-1",
            "evidence": [
                {
                    "id": "612775",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612775"
                },
                {
                    "id": "0111020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LPS1-1",
            "uniprot_ac": "A0ABK0LPS1",
            "uniprot_id": "A0ABK0LPS1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAM metallopeptidase domain 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adam9",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LPS1-1",
            "evidence": [
                {
                    "id": "0111020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111020"
}