{
    "disease_id": "DOID:0080417",
    "recommended_name": {
        "id": "DOID:0080417",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080417",
        "name": "developmental and epileptic encephalopathy 38",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0080417",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080417",
            "name": "DEE38",
            "description": ""
        },
        {
            "id": "DOID:0080417",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080417",
            "name": "early infantile epileptic encephalopathy 38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "developmental and epileptic encephalopathy, 38",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene."
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "ARV1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "DEE38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "EIEE38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "developmental and epileptic encephalopathy 38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "early infantile epileptic encephalopathy caused by mutation in ARV1",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, 38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, 38; EIEE38",
            "description": ""
        },
        {
            "id": "MONDO:0014868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "name": "epileptic encephalopathy, early infantile, type 38",
            "description": ""
        },
        {
            "id": "MIM:617020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617020",
            "name": "Developmental and epileptic encephalopathy 38",
            "description": "Developmental and epileptic encephalopathy 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080417"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080417",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080417",
            "categories": []
        },
        {
            "id": "MONDO:0014868",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014868",
            "categories": []
        },
        {
            "id": "MIM:617020",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617020",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D0U9-1",
            "uniprot_ac": "Q9D0U9",
            "uniprot_id": "ARV1_MOUSE",
            "refseq_ac": "NP_081131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ARV1",
                    "type": "recommended"
                },
                {
                    "name": "protein ARV1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arv1",
                    "type": "recommended"
                },
                {
                    "name": "1110067L22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0U9-1",
            "evidence": [
                {
                    "id": "0080417",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080417"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2C2-1",
            "uniprot_ac": "Q9H2C2",
            "uniprot_id": "ARV1_HUMAN",
            "refseq_ac": "NP_001333921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ARV1",
                    "type": "recommended"
                },
                {
                    "name": "ARV1 homolog, fatty acid homeostasis modulator",
                    "type": "synonym"
                },
                {
                    "name": "hARV1",
                    "type": "synonym"
                },
                {
                    "name": "protein ARV1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein ARV1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARV1",
                    "type": "recommended"
                },
                {
                    "name": "ARV1",
                    "type": "synonym"
                },
                {
                    "name": "DEE38",
                    "type": "synonym"
                },
                {
                    "name": "EIEE38",
                    "type": "synonym"
                },
                {
                    "name": "HT035",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2C2-1",
            "evidence": [
                {
                    "id": "617020",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617020"
                },
                {
                    "id": "0080417",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080417"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06541-1",
            "uniprot_ac": "Q06541",
            "uniprot_id": "ARV1_YEAST",
            "refseq_ac": "NP_013343",
            "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": "Protein ARV1",
                    "type": "recommended"
                },
                {
                    "name": "sterol homeostasis protein ARV1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARV1",
                    "type": "recommended"
                },
                {
                    "name": "ARV1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06541-1",
            "evidence": [
                {
                    "id": "0080417",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080417"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTJ1-1",
            "uniprot_ac": "D3ZTJ1",
            "uniprot_id": "D3ZTJ1_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 ARV",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Arv1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZTJ1-1",
            "evidence": [
                {
                    "id": "0080417",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080417"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080417"
}