{
    "disease_id": "DOID:0080946",
    "recommended_name": {
        "id": "DOID:0080946",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080946",
        "name": "retinal dystrophy with leukodystrophy",
        "description": "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12."
    },
    "synonyms": [
        {
            "id": "DOID:0080946",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080946",
            "name": "ACBD5 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "retinal dystrophy with leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "RDLKD",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "RETINAL DYSTROPHY WITH LEUKODYSTROPHY",
            "description": ""
        },
        {
            "id": "MONDO:0030026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "name": "retinal dystrophy with leukodystrophy",
            "description": ""
        },
        {
            "id": "MIM:618863",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618863",
            "name": "Retinal dystrophy with leukodystrophy",
            "description": "Retinal dystrophy with leukodystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080946"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080946",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080946",
            "categories": []
        },
        {
            "id": "MONDO:0030026",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030026",
            "categories": []
        },
        {
            "id": "MIM:618863",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618863",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q502L1-1",
            "uniprot_ac": "Q502L1",
            "uniprot_id": "ACB5A_DANRE",
            "refseq_ac": "NP_001018483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-CoA-binding domain-containing protein 5A",
                    "type": "recommended"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5A",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A binding domain containing 5a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acbd5a",
                    "type": "recommended"
                },
                {
                    "name": "acbd5a",
                    "type": "synonym"
                },
                {
                    "name": "acbd5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112043",
                    "type": "synonym"
                }
            ],
            "record_id": "Q502L1-1",
            "evidence": [
                {
                    "id": "0080946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5WV69-1",
            "uniprot_ac": "A5WV69",
            "uniprot_id": "ACB5B_DANRE",
            "refseq_ac": "NP_001093558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-CoA-binding domain-containing protein 5-B",
                    "type": "recommended"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5-B",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A binding domain containing 5b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acbd5b",
                    "type": "recommended"
                },
                {
                    "name": "acbd5b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-112d19.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WV69-1",
            "evidence": [
                {
                    "id": "0080946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XG73-1",
            "uniprot_ac": "Q5XG73",
            "uniprot_id": "ACBD5_MOUSE",
            "refseq_ac": "NP_001095906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-CoA-binding domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acbd5",
                    "type": "recommended"
                },
                {
                    "name": "1300014E15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Acbd5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XG73-1",
            "evidence": [
                {
                    "id": "0080946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T8D3-1",
            "uniprot_ac": "Q5T8D3",
            "uniprot_id": "ACBD5_HUMAN",
            "refseq_ac": "NP_001035938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-CoA-binding domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A binding domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "endozepine-related protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated diazepam binding inhibitor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACBD5",
                    "type": "recommended"
                },
                {
                    "name": "ACBD5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1996",
                    "type": "synonym"
                },
                {
                    "name": "RDLKD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T8D3-1",
            "evidence": [
                {
                    "id": "618863",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618863"
                },
                {
                    "id": "0080946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0FKI7-1",
            "uniprot_ac": "A0FKI7",
            "uniprot_id": "ACBD5_RAT",
            "refseq_ac": "NP_001071103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-CoA-binding domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA-binding domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A binding domain containing 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acbd5",
                    "type": "recommended"
                },
                {
                    "name": "Acbd5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0FKI7-1",
            "evidence": [
                {
                    "id": "0080946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQI6-1",
            "uniprot_ac": "Q9VQI6",
            "uniprot_id": "Q9VQI6_DROME",
            "refseq_ac": "NP_608729",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ACB domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG8814-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acbp7",
                    "type": "recommended"
                },
                {
                    "name": "CG8814",
                    "type": "synonym"
                },
                {
                    "name": "DmCG8814",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8814",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8814",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQI6-1",
            "evidence": [
                {
                    "id": "0080946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080946"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080946"
}