{
    "disease_id": "DOID:0060382",
    "recommended_name": {
        "id": "DOID:0060382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060382",
        "name": "orofaciodigital syndrome IX",
        "description": "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0060382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060382",
            "name": "OFD9",
            "description": ""
        },
        {
            "id": "DOID:0060382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060382",
            "name": "orofaciodigital syndrome with retinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "orofaciodigital syndrome IX",
            "description": "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)."
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "OFD9",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "oral-facial-digital syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "oral-facial-digital syndrome with retinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "orofaciodigital syndrome IX",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "orofaciodigital syndrome type IX",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "orofaciodigital syndrome with retinal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "OFD syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "oral facial digital syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "oral facial digital syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0009795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "name": "orofaciodigital syndrome 9",
            "description": ""
        },
        {
            "id": "MIM:258865",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258865",
            "name": "Orofaciodigital syndrome 9",
            "description": "Orofaciodigital syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060382"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060382",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060382",
            "categories": []
        },
        {
            "id": "MONDO:0009795",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009795",
            "categories": []
        },
        {
            "id": "MIM:258865",
            "database": "MIM",
            "url": "https://www.omim.org/entry/258865",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RHR6-1",
            "uniprot_ac": "Q5RHR6",
            "uniprot_id": "BROMI_DANRE",
            "refseq_ac": "NP_001093493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein broad-minded",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 32",
                    "type": "synonym"
                },
                {
                    "name": "bromi",
                    "type": "synonym"
                },
                {
                    "name": "protein broad-minded",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbc1d32",
                    "type": "recommended"
                },
                {
                    "name": "bromi",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-233p4.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey233p4.1",
                    "type": "synonym"
                },
                {
                    "name": "tbc1d32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RHR6-1",
            "evidence": [
                {
                    "id": "0060382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3URV1-1",
            "uniprot_ac": "Q3URV1",
            "uniprot_id": "BROMI_MOUSE",
            "refseq_ac": "NP_001028557",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein broad-minded",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 32",
                    "type": "synonym"
                },
                {
                    "name": "protein broad-minded",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d32",
                    "type": "recommended"
                },
                {
                    "name": "Bromi",
                    "type": "synonym"
                },
                {
                    "name": "C6orf170",
                    "type": "synonym"
                },
                {
                    "name": "D630037F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d32",
                    "type": "synonym"
                },
                {
                    "name": "b2b2284Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3URV1-1",
            "evidence": [
                {
                    "id": "0060382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96NH3-1",
            "uniprot_ac": "Q96NH3",
            "uniprot_id": "BROMI_HUMAN",
            "refseq_ac": "NP_689943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein broad-minded",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 32",
                    "type": "synonym"
                },
                {
                    "name": "broad-minded homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein broad-minded isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein broad-minded",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBC1D32",
                    "type": "recommended"
                },
                {
                    "name": "ALHSA",
                    "type": "synonym"
                },
                {
                    "name": "BROMI",
                    "type": "synonym"
                },
                {
                    "name": "C6orf170",
                    "type": "synonym"
                },
                {
                    "name": "C6orf171",
                    "type": "synonym"
                },
                {
                    "name": "OFD9",
                    "type": "synonym"
                },
                {
                    "name": "RP100",
                    "type": "synonym"
                },
                {
                    "name": "TBC1D32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96NH3-1",
            "evidence": [
                {
                    "id": "258865",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/258865"
                },
                {
                    "id": "0060382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A050-1",
            "uniprot_ac": "D4A050",
            "uniprot_id": "D4A050_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein broad-minded",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d32",
                    "type": "recommended"
                },
                {
                    "name": "LOC100359595",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A050-1",
            "evidence": [
                {
                    "id": "0060382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060382"
}