{
    "disease_id": "DOID:0050883",
    "recommended_name": {
        "id": "DOID:0050883",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050883",
        "name": "infantile cerebellar-retinal degeneration",
        "description": "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration."
    },
    "synonyms": [
        {
            "id": "MONDO:0013802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013802",
            "name": "infantile cerebellar-retinal degeneration",
            "description": "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms."
        },
        {
            "id": "MONDO:0013802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013802",
            "name": "infantile cerebellar-retinal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0013802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013802",
            "name": "ICRD",
            "description": ""
        },
        {
            "id": "MONDO:0013802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013802",
            "name": "infantile cerebellar retinal degeneration",
            "description": ""
        },
        {
            "id": "MIM:614559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614559",
            "name": "Infantile cerebellar-retinal degeneration",
            "description": "Infantile cerebellar-retinal degeneration"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050883"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050883",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050883",
            "categories": []
        },
        {
            "id": "MONDO:0013802",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013802",
            "categories": []
        },
        {
            "id": "MIM:614559",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614559",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99KI0-1",
            "uniprot_ac": "Q99KI0",
            "uniprot_id": "ACON_MOUSE",
            "refseq_ac": "NP_542364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aco2",
                    "type": "recommended"
                },
                {
                    "name": "Aco-2",
                    "type": "synonym"
                },
                {
                    "name": "Aco2",
                    "type": "synonym"
                },
                {
                    "name": "Aco3",
                    "type": "synonym"
                },
                {
                    "name": "D10Wsu183e",
                    "type": "synonym"
                },
                {
                    "name": "Irp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KI0-1",
            "evidence": [
                {
                    "id": "0050883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99798-1",
            "uniprot_ac": "Q99798",
            "uniprot_id": "ACON_HUMAN",
            "refseq_ac": "NP_001089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 284",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACO2",
                    "type": "recommended"
                },
                {
                    "name": "ACO2",
                    "type": "synonym"
                },
                {
                    "name": "ACONM",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-284",
                    "type": "synonym"
                },
                {
                    "name": "ICRD",
                    "type": "synonym"
                },
                {
                    "name": "OCA8",
                    "type": "synonym"
                },
                {
                    "name": "OPA9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99798-1",
            "evidence": [
                {
                    "id": "614559",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614559"
                },
                {
                    "id": "0050883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19414-1",
            "uniprot_ac": "P19414",
            "uniprot_id": "ACON_YEAST",
            "refseq_ac": "NP_013407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase ACO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACO1",
                    "type": "recommended"
                },
                {
                    "name": "ACO1",
                    "type": "synonym"
                },
                {
                    "name": "GLU1",
                    "type": "synonym"
                },
                {
                    "name": "L8003.22",
                    "type": "synonym"
                }
            ],
            "record_id": "P19414-1",
            "evidence": [
                {
                    "id": "0050883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER34-1",
            "uniprot_ac": "Q9ER34",
            "uniprot_id": "ACON_RAT",
            "refseq_ac": "NP_077374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase (nuclear aco2 gene)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aco2",
                    "type": "recommended"
                },
                {
                    "name": "Aco2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER34-1",
            "evidence": [
                {
                    "id": "0050883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIE8-1",
            "uniprot_ac": "Q9VIE8",
            "uniprot_id": "Q9VIE8_DROME",
            "refseq_ac": "NP_001097186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ACONITASE",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "CG9244-PE",
                    "type": "synonym"
                },
                {
                    "name": "m-aconitase",
                    "type": "synonym"
                },
                {
                    "name": "mAcon1-PE",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mAcon1",
                    "type": "recommended"
                },
                {
                    "name": "ACON-1",
                    "type": "synonym"
                },
                {
                    "name": "AconM",
                    "type": "synonym"
                },
                {
                    "name": "Acon",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH10550",
                    "type": "synonym"
                },
                {
                    "name": "CG9244",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9244",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9244",
                    "type": "synonym"
                },
                {
                    "name": "M-Acon",
                    "type": "synonym"
                },
                {
                    "name": "aconitase",
                    "type": "synonym"
                },
                {
                    "name": "acon",
                    "type": "synonym"
                },
                {
                    "name": "hsp60",
                    "type": "synonym"
                },
                {
                    "name": "i204",
                    "type": "synonym"
                },
                {
                    "name": "i59",
                    "type": "synonym"
                },
                {
                    "name": "l(2)07054",
                    "type": "synonym"
                },
                {
                    "name": "m-Acon",
                    "type": "synonym"
                },
                {
                    "name": "m-acon",
                    "type": "synonym"
                },
                {
                    "name": "mACON",
                    "type": "synonym"
                },
                {
                    "name": "mAcon1",
                    "type": "synonym"
                },
                {
                    "name": "mAcon",
                    "type": "synonym"
                },
                {
                    "name": "mAc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIE8-1",
            "evidence": [
                {
                    "id": "0050883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050883"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050883"
}