{
    "disease_id": "DOID:0060841",
    "recommended_name": {
        "id": "DOID:0060841",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060841",
        "name": "isolated microphthalmia 8",
        "description": "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0060841",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060841",
            "name": "MCOP8",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "isolated microphthalmia 8",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene."
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "ALDH1A3 isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "MCOP8",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "isolated microphthalmia 8",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "isolated microphthalmia caused by mutation in ALDH1A3",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "isolated microphthalmia type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "microphthalmia, isolated type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014050",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "name": "microphthalmia, isolated 8",
            "description": ""
        },
        {
            "id": "MIM:615113",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615113",
            "name": "Microphthalmia, isolated, 8",
            "description": "Microphthalmia, isolated, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060841"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060841",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060841",
            "categories": []
        },
        {
            "id": "MONDO:0014050",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014050",
            "categories": []
        },
        {
            "id": "MIM:615113",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615113",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JHW9-1",
            "uniprot_ac": "Q9JHW9",
            "uniprot_id": "AL1A3_MOUSE",
            "refseq_ac": "NP_444310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinaldehyde dehydrogenase 3",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.36",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase 6",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 1 member A3",
                    "type": "synonym"
                },
                {
                    "name": "Aldh1a3",
                    "type": "synonym"
                },
                {
                    "name": "RALDH-3",
                    "type": "synonym"
                },
                {
                    "name": "RalDH3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 1 member A3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase-6",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde dehydrogenase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh1a3",
                    "type": "recommended"
                },
                {
                    "name": "ALDH6",
                    "type": "synonym"
                },
                {
                    "name": "Aldh1a3",
                    "type": "synonym"
                },
                {
                    "name": "Aldh6",
                    "type": "synonym"
                },
                {
                    "name": "RALDH3",
                    "type": "synonym"
                },
                {
                    "name": "Raldh3",
                    "type": "synonym"
                },
                {
                    "name": "V1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHW9-1",
            "evidence": [
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47895-1",
            "uniprot_ac": "P47895",
            "uniprot_id": "AL1A3_HUMAN",
            "refseq_ac": "NP_000684",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinaldehyde dehydrogenase 3",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.36",
                    "type": "synonym"
                },
                {
                    "name": "ALDH1A3",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase 6",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 1 member A3",
                    "type": "synonym"
                },
                {
                    "name": "RALDH-3",
                    "type": "synonym"
                },
                {
                    "name": "RalDH3",
                    "type": "synonym"
                },
                {
                    "name": "acetaldehyde dehydrogenase 6",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase 6",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde dehydrogenase 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde dehydrogenase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDH1A3",
                    "type": "recommended"
                },
                {
                    "name": "ALDH1A3",
                    "type": "synonym"
                },
                {
                    "name": "ALDH1A6",
                    "type": "synonym"
                },
                {
                    "name": "ALDH6",
                    "type": "synonym"
                },
                {
                    "name": "MCOP8",
                    "type": "synonym"
                },
                {
                    "name": "RALDH3",
                    "type": "synonym"
                }
            ],
            "record_id": "P47895-1",
            "evidence": [
                {
                    "id": "615113",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615113"
                },
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46367-1",
            "uniprot_ac": "P46367",
            "uniprot_id": "ALDH4_YEAST",
            "refseq_ac": "NP_015019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium-activated aldehyde dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.5",
                    "type": "synonym"
                },
                {
                    "name": "K(+)-ACDH",
                    "type": "synonym"
                },
                {
                    "name": "K(+)-activated acetaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase (NADP(+)) ALD4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALD4",
                    "type": "recommended"
                },
                {
                    "name": "ALD4",
                    "type": "synonym"
                },
                {
                    "name": "ALD7",
                    "type": "synonym"
                },
                {
                    "name": "ALDH2",
                    "type": "synonym"
                },
                {
                    "name": "O6730",
                    "type": "synonym"
                }
            ],
            "record_id": "P46367-1",
            "evidence": [
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47771-1",
            "uniprot_ac": "P47771",
            "uniprot_id": "ALDH2_YEAST",
            "refseq_ac": "NP_013893",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde dehydrogenase [NAD(P)+] 1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase (NAD(+)) ALD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALD2",
                    "type": "recommended"
                },
                {
                    "name": "ALD2",
                    "type": "synonym"
                },
                {
                    "name": "ALD5",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.19C",
                    "type": "synonym"
                }
            ],
            "record_id": "P47771-1",
            "evidence": [
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40047-1",
            "uniprot_ac": "P40047",
            "uniprot_id": "ALDH5_YEAST",
            "refseq_ac": "NP_010996",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde dehydrogenase 5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.4",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase (NAD(P)(+)) ALD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALD5",
                    "type": "recommended"
                },
                {
                    "name": "ALD3",
                    "type": "synonym"
                },
                {
                    "name": "ALD5",
                    "type": "synonym"
                },
                {
                    "name": "ALDH5",
                    "type": "synonym"
                }
            ],
            "record_id": "P40047-1",
            "evidence": [
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54114-1",
            "uniprot_ac": "P54114",
            "uniprot_id": "ALDH3_YEAST",
            "refseq_ac": "NP_013892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde dehydrogenase [NAD(P)+] 2",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase (NAD(+)) ALD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALD3",
                    "type": "recommended"
                },
                {
                    "name": "ALD3",
                    "type": "synonym"
                },
                {
                    "name": "ALD4",
                    "type": "synonym"
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                {
                    "name": "YM8520.18C",
                    "type": "synonym"
                }
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                    "id": "0060841",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54115-1",
            "uniprot_ac": "P54115",
            "uniprot_id": "ALDH6_YEAST",
            "refseq_ac": "NP_015264",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium-activated aldehyde dehydrogenase, cytosolic",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Mg(2+)-ACDH",
                    "type": "synonym"
                },
                {
                    "name": "Mg(2+)-activated acetaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase (NADP(+)) ALD6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALD6",
                    "type": "recommended"
                },
                {
                    "name": "ALD1",
                    "type": "synonym"
                },
                {
                    "name": "ALD6",
                    "type": "synonym"
                },
                {
                    "name": "ALDH1",
                    "type": "synonym"
                },
                {
                    "name": "LPE9",
                    "type": "synonym"
                }
            ],
            "record_id": "P54115-1",
            "evidence": [
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4D8-1",
            "uniprot_ac": "Q8K4D8",
            "uniprot_id": "AL1A3_RAT",
            "refseq_ac": "NP_695212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinaldehyde dehydrogenase 3",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.36",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase 6",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 1 member A3",
                    "type": "synonym"
                },
                {
                    "name": "Aldh1a3",
                    "type": "synonym"
                },
                {
                    "name": "RALDH-3",
                    "type": "synonym"
                },
                {
                    "name": "RalDH3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase 6",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 1 member A3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 1, subfamily A3",
                    "type": "synonym"
                },
                {
                    "name": "ralDH3",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde dehydrogenase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh1a3",
                    "type": "recommended"
                },
                {
                    "name": "Aldh1a3",
                    "type": "synonym"
                },
                {
                    "name": "Aldh6",
                    "type": "synonym"
                },
                {
                    "name": "Raldh3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4D8-1",
            "evidence": [
                {
                    "id": "0060841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060841"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060841"
}