{
    "disease_id": "DOID:0060962",
    "recommended_name": {
        "id": "DOID:0060962",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060962",
        "name": "orofaciodigital syndrome XX",
        "description": "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958230",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958230",
            "name": "orofaciodigital syndrome 20",
            "description": ""
        },
        {
            "id": "MIM:620718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620718",
            "name": "Orofaciodigital syndrome 20",
            "description": "Orofaciodigital syndrome 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060962"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060962",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060962",
            "categories": []
        },
        {
            "id": "MONDO:0958230",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958230",
            "categories": []
        },
        {
            "id": "MIM:620718",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620718",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1Q809-1",
            "uniprot_ac": "A0A8M1Q809",
            "uniprot_id": "A0A8M1Q809_DANRE",
            "refseq_ac": "XP_001346073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-34 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-34 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rab34b",
                    "type": "recommended"
                },
                {
                    "name": "rab34b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q809-1",
            "evidence": [
                {
                    "id": "0060962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64008-1",
            "uniprot_ac": "Q64008",
            "uniprot_id": "RAB34_MOUSE",
            "refseq_ac": "NP_001152954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-34",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB34, member of RAS oncogene family",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein Rab-39",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein Rah",
                    "type": "synonym"
                },
                {
                    "name": "rab-39",
                    "type": "synonym"
                },
                {
                    "name": "ras-related homolog",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-34",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-39",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rah",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab34",
                    "type": "recommended"
                },
                {
                    "name": "Narr",
                    "type": "synonym"
                },
                {
                    "name": "Rab34",
                    "type": "synonym"
                },
                {
                    "name": "Rab39",
                    "type": "synonym"
                },
                {
                    "name": "Rah1",
                    "type": "synonym"
                },
                {
                    "name": "Rah",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64008-1",
            "evidence": [
                {
                    "id": "0060962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZG1-1",
            "uniprot_ac": "Q9BZG1",
            "uniprot_id": "RAB34_HUMAN",
            "refseq_ac": "NP_001138414",
            "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-34",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein Rab-39",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein Rah",
                    "type": "synonym"
                },
                {
                    "name": "nine amino-acid residue-repeats",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-34 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-39",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rah",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB34",
                    "type": "recommended"
                },
                {
                    "name": "NARR",
                    "type": "synonym"
                },
                {
                    "name": "OFD20",
                    "type": "synonym"
                },
                {
                    "name": "RAB34",
                    "type": "synonym"
                },
                {
                    "name": "RAB39",
                    "type": "synonym"
                },
                {
                    "name": "RAH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZG1-1",
            "evidence": [
                {
                    "id": "620718",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620718"
                },
                {
                    "id": "0060962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U1Y1-1",
            "uniprot_ac": "Q5U1Y1",
            "uniprot_id": "RAB34_RAT",
            "refseq_ac": "NP_001012140",
            "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-34",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB34, member of RAS oncogene family",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein RAB34",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab34",
                    "type": "recommended"
                },
                {
                    "name": "Rab34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U1Y1-1",
            "evidence": [
                {
                    "id": "0060962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0A7-1",
            "uniprot_ac": "Q9W0A7",
            "uniprot_id": "Q9W0A7_DROME",
            "refseq_ac": "NP_647644",
            "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-36",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG7980-PB",
                    "type": "synonym"
                },
                {
                    "name": "RabX5-PB",
                    "type": "synonym"
                },
                {
                    "name": "RabX5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RabX5",
                    "type": "recommended"
                },
                {
                    "name": "CG7980",
                    "type": "synonym"
                },
                {
                    "name": "DmRabX5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7980",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7980",
                    "type": "synonym"
                },
                {
                    "name": "Q9W0A7",
                    "type": "synonym"
                },
                {
                    "name": "RabX5",
                    "type": "synonym"
                },
                {
                    "name": "rabX5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0A7-1",
            "evidence": [
                {
                    "id": "0060962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060962"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060962"
}