{
    "disease_id": "DOID:0110139",
    "recommended_name": {
        "id": "DOID:0110139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110139",
        "name": "Bardet-Biedl syndrome 17",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110139",
            "name": "BBS17",
            "description": ""
        },
        {
            "id": "MONDO:0014445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "name": "Bardet-Biedl syndrome 17",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene."
        },
        {
            "id": "MONDO:0014445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "name": "BBS17",
            "description": ""
        },
        {
            "id": "MONDO:0014445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "name": "Bardet-Biedl syndrome 17",
            "description": ""
        },
        {
            "id": "MONDO:0014445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "name": "Bardet-Biedl syndrome caused by mutation in LZTFL1",
            "description": ""
        },
        {
            "id": "MONDO:0014445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "name": "Bardet-Biedl syndrome type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "name": "LZTFL1 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MIM:615994",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615994",
            "name": "Bardet-Biedl syndrome 17",
            "description": "Bardet-Biedl syndrome 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110139"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110139",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110139",
            "categories": []
        },
        {
            "id": "MONDO:0014445",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014445",
            "categories": []
        },
        {
            "id": "MIM:615994",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615994",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JHQ5-1",
            "uniprot_ac": "Q9JHQ5",
            "uniprot_id": "LZTL1_MOUSE",
            "refseq_ac": "NP_201579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine zipper transcription factor-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "leucine zipper transcription factor-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lztfl1",
                    "type": "recommended"
                },
                {
                    "name": "5530402H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "6130400H19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lztfl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHQ5-1",
            "evidence": [
                {
                    "id": "0110139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQ48-1",
            "uniprot_ac": "Q9NQ48",
            "uniprot_id": "LZTL1_HUMAN",
            "refseq_ac": "NP_001263307",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine zipper transcription factor-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "leucine zipper transcription factor-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper transcription factor-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LZTFL1",
                    "type": "recommended"
                },
                {
                    "name": "BBS17",
                    "type": "synonym"
                },
                {
                    "name": "LZTFL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQ48-1",
            "evidence": [
                {
                    "id": "615994",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615994"
                },
                {
                    "id": "0110139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q562C6-1",
            "uniprot_ac": "Q562C6",
            "uniprot_id": "LZTL1_RAT",
            "refseq_ac": "NP_001019437",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine zipper transcription factor-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "leucine zipper transcription factor-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lztfl1",
                    "type": "recommended"
                },
                {
                    "name": "Lztfl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q562C6-1",
            "evidence": [
                {
                    "id": "0110139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110139"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110139"
}