{
    "disease_id": "DOID:0061098",
    "recommended_name": {
        "id": "DOID:0061098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061098",
        "name": "Carpenter syndrome 1",
        "description": "A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23-related Carpenter syndrome",
            "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene."
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "ACPS 2",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "acrocephalopolysyndactyly type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome caused by mutation in RAB23",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23 Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23-related Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "CRPT1",
            "description": ""
        },
        {
            "id": "MIM:201000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201000",
            "name": "Carpenter syndrome 1",
            "description": "Carpenter syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061098"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061098",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061098",
            "categories": []
        },
        {
            "id": "MONDO:0008710",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "categories": []
        },
        {
            "id": "MIM:201000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35288-1",
            "uniprot_ac": "P35288",
            "uniprot_id": "RAB23_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-23",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Protein open brain",
                    "type": "synonym"
                },
                {
                    "name": "Rab-15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab23",
                    "type": "recommended"
                },
                {
                    "name": "Opb",
                    "type": "synonym"
                }
            ],
            "record_id": "P35288-1",
            "evidence": [
                {
                    "id": "0061098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULC3-1",
            "uniprot_ac": "Q9ULC3",
            "uniprot_id": "RAB23_HUMAN",
            "refseq_ac": "NP_001265595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-23",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB family small GTP binding protein RAB 23",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB23",
                    "type": "recommended"
                },
                {
                    "name": "CRPT1",
                    "type": "synonym"
                },
                {
                    "name": "HSPC137",
                    "type": "synonym"
                },
                {
                    "name": "RAB23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULC3-1",
            "evidence": [
                {
                    "id": "201000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201000"
                },
                {
                    "id": "0061098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZRM5-1",
            "uniprot_ac": "D3ZRM5",
            "uniprot_id": "D3ZRM5_RAT",
            "refseq_ac": "NP_001102475",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-23",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab23",
                    "type": "recommended"
                },
                {
                    "name": "Rab23",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZRM5-1",
            "evidence": [
                {
                    "id": "0061098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNG6-1",
            "uniprot_ac": "Q9VNG6",
            "uniprot_id": "Q9VNG6_DROME",
            "refseq_ac": "NP_649574",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-23",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG2108-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rab23-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rab23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab23",
                    "type": "recommended"
                },
                {
                    "name": "CG2108",
                    "type": "synonym"
                },
                {
                    "name": "DmRab23",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2108",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2108",
                    "type": "synonym"
                },
                {
                    "name": "Q9VNG6",
                    "type": "synonym"
                },
                {
                    "name": "Rab23",
                    "type": "synonym"
                },
                {
                    "name": "rab23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNG6-1",
            "evidence": [
                {
                    "id": "0061098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061098"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061098"
}