{
    "disease_id": "DOID:0080435",
    "recommended_name": {
        "id": "DOID:0080435",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080435",
        "name": "developmental and epileptic encephalopathy 37",
        "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080435",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080435",
            "name": "DEE37",
            "description": ""
        },
        {
            "id": "DOID:0080435",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080435",
            "name": "early infantile epileptic encephalopathy 37",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "developmental and epileptic encephalopathy, 37",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene."
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "DEE37",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "EIEE37",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "FRRS1L early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "developmental and epileptic encephalopathy 37",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "early infantile epileptic encephalopathy caused by mutation in FRRS1L",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "epileptic encephalopathy, early infantile, 37",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "epileptic encephalopathy, early infantile, 37; EIEE37",
            "description": ""
        },
        {
            "id": "MONDO:0014859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "name": "epileptic encephalopathy, early infantile, type 37",
            "description": ""
        },
        {
            "id": "MIM:616981",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616981",
            "name": "Developmental and epileptic encephalopathy 37",
            "description": "Developmental and epileptic encephalopathy 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080435"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080435",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080435",
            "categories": []
        },
        {
            "id": "MONDO:0014859",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014859",
            "categories": []
        },
        {
            "id": "MIM:616981",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616981",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B1AXV0-1",
            "uniprot_ac": "B1AXV0",
            "uniprot_id": "FRS1L_MOUSE",
            "refseq_ac": "NP_001136437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DOMON domain-containing protein FRRS1L",
                    "type": "recommended"
                },
                {
                    "name": "DOMON domain-containing protein FRRS1L precursor",
                    "type": "synonym"
                },
                {
                    "name": "DOMON domain-containing protein FRRS1L",
                    "type": "synonym"
                },
                {
                    "name": "Ferric-chelate reductase 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ferric-chelate reductase 1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frrs1l",
                    "type": "recommended"
                },
                {
                    "name": "6430704M03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Frrs1l",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AXV0-1",
            "evidence": [
                {
                    "id": "0080435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0K9-1",
            "uniprot_ac": "Q9P0K9",
            "uniprot_id": "FRS1L_HUMAN",
            "refseq_ac": "NP_055149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DOMON domain-containing protein FRRS1L",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein CG-6",
                    "type": "synonym"
                },
                {
                    "name": "DOMON domain-containing protein FRRS1L precursor",
                    "type": "synonym"
                },
                {
                    "name": "DOMON domain-containing protein FRRS1L",
                    "type": "synonym"
                },
                {
                    "name": "Ferric-chelate reductase 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "brain protein CG-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRRS1L",
                    "type": "recommended"
                },
                {
                    "name": "C9orf4",
                    "type": "synonym"
                },
                {
                    "name": "CG-6",
                    "type": "synonym"
                },
                {
                    "name": "CG6",
                    "type": "synonym"
                },
                {
                    "name": "DEE37",
                    "type": "synonym"
                },
                {
                    "name": "EIEE37",
                    "type": "synonym"
                },
                {
                    "name": "FRRS1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P0K9-1",
            "evidence": [
                {
                    "id": "616981",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616981"
                },
                {
                    "id": "0080435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZE85-1",
            "uniprot_ac": "D3ZE85",
            "uniprot_id": "FRS1L_RAT",
            "refseq_ac": "NP_001406566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DOMON domain-containing protein FRRS1L",
                    "type": "recommended"
                },
                {
                    "name": "DOMON domain-containing protein FRRS1L precursor",
                    "type": "synonym"
                },
                {
                    "name": "DOMON domain-containing protein FRRS1L",
                    "type": "synonym"
                },
                {
                    "name": "Ferric-chelate reductase 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte protein band 4.1-like 4b",
                    "type": "synonym"
                },
                {
                    "name": "ferric-chelate reductase 1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frrs1l",
                    "type": "recommended"
                },
                {
                    "name": "Epb4.1l4b",
                    "type": "synonym"
                },
                {
                    "name": "Frrs1l",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZE85-1",
            "evidence": [
                {
                    "id": "0080435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080435"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080435"
}