{
    "disease_id": "DOID:0080275",
    "recommended_name": {
        "id": "DOID:0080275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080275",
        "name": "Joubert syndrome 30",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0033308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033308",
            "name": "Joubert syndrome 30",
            "description": ""
        },
        {
            "id": "MONDO:0033308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033308",
            "name": "Joubert syndrome 30",
            "description": ""
        },
        {
            "id": "MONDO:0033308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033308",
            "name": "JBTS30",
            "description": ""
        },
        {
            "id": "MIM:617622",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617622",
            "name": "Joubert syndrome 30",
            "description": "Joubert syndrome 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080275"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080275",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080275",
            "categories": []
        },
        {
            "id": "MONDO:0033308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033308",
            "categories": []
        },
        {
            "id": "MIM:617622",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617622",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D2I5-1",
            "uniprot_ac": "Q9D2I5",
            "uniprot_id": "ARMC9_MOUSE",
            "refseq_ac": "NP_001297631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LisH domain-containing protein ARMC9",
                    "type": "recommended"
                },
                {
                    "name": "lisH domain-containing protein ARMC9 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "lisH domain-containing protein ARMC9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Armc9",
                    "type": "recommended"
                },
                {
                    "name": "3830422A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "4831423D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930438O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730415N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Armc9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2I5-1",
            "evidence": [
                {
                    "id": "0080275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z3E5-1",
            "uniprot_ac": "Q7Z3E5",
            "uniprot_id": "ARMC9_HUMAN",
            "refseq_ac": "NP_001258395",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LisH domain-containing protein ARMC9",
                    "type": "recommended"
                },
                {
                    "name": "Armadillo repeat-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma/melanocyte-specific tumor antigen KU-MEL-1",
                    "type": "synonym"
                },
                {
                    "name": "NS21",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "armadillo/beta-catenin-like repeats",
                    "type": "synonym"
                },
                {
                    "name": "lisH domain-containing protein ARMC9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lisH domain-containing protein ARMC9",
                    "type": "synonym"
                },
                {
                    "name": "melanoma/melanocyte specific protein KU-MEL-1",
                    "type": "synonym"
                },
                {
                    "name": "melanoma/melanocyte-specific tumor antigen KU-MEL-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARMC9",
                    "type": "recommended"
                },
                {
                    "name": "ARMC9",
                    "type": "synonym"
                },
                {
                    "name": "ARM",
                    "type": "synonym"
                },
                {
                    "name": "JBTS30",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1868",
                    "type": "synonym"
                },
                {
                    "name": "KU-MEL-1",
                    "type": "synonym"
                },
                {
                    "name": "NS21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z3E5-1",
            "evidence": [
                {
                    "id": "617622",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617622"
                },
                {
                    "id": "0080275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1A5P5-1",
            "uniprot_ac": "A1A5P5",
            "uniprot_id": "ARMC9_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": "LisH domain-containing protein ARMC9",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Armc9",
                    "type": "recommended"
                }
            ],
            "record_id": "A1A5P5-1",
            "evidence": [
                {
                    "id": "0080275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080275"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080275"
}