{
    "disease_id": "DOID:0080285",
    "recommended_name": {
        "id": "DOID:0080285",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080285",
        "name": "developmental and epileptic encephalopathy 58",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080285",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080285",
            "name": "early infantile epileptic encephalopathy 58",
            "description": ""
        },
        {
            "id": "DOID:0080285",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080285",
            "name": "DEE58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "developmental and epileptic encephalopathy, 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "DEE58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "EIEE58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "developmental and epileptic encephalopathy 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "epileptic encephalopathy, early infantile, 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "infantile epileptic encephalopathy 58",
            "description": ""
        },
        {
            "id": "MIM:617830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617830",
            "name": "Developmental and epileptic encephalopathy 58",
            "description": "Developmental and epileptic encephalopathy 58"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080285"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080285",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080285",
            "categories": []
        },
        {
            "id": "MONDO:0033367",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "categories": []
        },
        {
            "id": "MIM:617830",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617830",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A3P4-1",
            "uniprot_ac": "A0AB13A3P4",
            "uniprot_id": "A0AB13A3P4_DANRE",
            "refseq_ac": "NP_001353483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ntrk2a",
                    "type": "recommended"
                },
                {
                    "name": "ntrk2a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-148p15.2",
                    "type": "synonym"
                },
                {
                    "name": "trkB1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A3P4-1",
            "evidence": [
                {
                    "id": "0080285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4ILA2-1",
            "uniprot_ac": "A0A0R4ILA2",
            "uniprot_id": "A0A0R4ILA2_DANRE",
            "refseq_ac": "NP_001184090",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor, type 2b precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor, type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ntrk2b",
                    "type": "recommended"
                },
                {
                    "name": "ntrk2b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-220b11.1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-270f14.4",
                    "type": "synonym"
                },
                {
                    "name": "trkB2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ILA2-1",
            "evidence": [
                {
                    "id": "0080285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15209-1",
            "uniprot_ac": "P15209",
            "uniprot_id": "NTRK2_MOUSE",
            "refseq_ac": "NP_001020245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BDNF/NT-3 growth factors receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor",
                    "type": "synonym"
                },
                {
                    "name": "GP145-TrkB/GP95-TrkB",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "Trk-B",
                    "type": "synonym"
                },
                {
                    "name": "TrkB tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine receptor kinase type 2",
                    "type": "synonym"
                },
                {
                    "name": "trkB tyrosine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ntrk2",
                    "type": "recommended"
                },
                {
                    "name": "GP145-TrkB/GP95-TrkB",
                    "type": "synonym"
                },
                {
                    "name": "Ntrk2",
                    "type": "synonym"
                },
                {
                    "name": "Tkrb",
                    "type": "synonym"
                },
                {
                    "name": "Trkb",
                    "type": "synonym"
                },
                {
                    "name": "trk-B",
                    "type": "synonym"
                },
                {
                    "name": "trkB",
                    "type": "synonym"
                }
            ],
            "record_id": "P15209-1",
            "evidence": [
                {
                    "id": "0080285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16620-1",
            "uniprot_ac": "Q16620",
            "uniprot_id": "NTRK2_HUMAN",
            "refseq_ac": "NP_001007098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BDNF/NT-3 growth factors receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "BDNF-tropomyosine receptor kinase B",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor",
                    "type": "synonym"
                },
                {
                    "name": "GP145-TrkB",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "Trk-B",
                    "type": "synonym"
                },
                {
                    "name": "TrkB tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-related kinase B",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin-related kinase B",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase receptor B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NTRK2",
                    "type": "recommended"
                },
                {
                    "name": "DEE58",
                    "type": "synonym"
                },
                {
                    "name": "EIEE58",
                    "type": "synonym"
                },
                {
                    "name": "GP145-TrkB",
                    "type": "synonym"
                },
                {
                    "name": "NTRK2",
                    "type": "synonym"
                },
                {
                    "name": "OBHD",
                    "type": "synonym"
                },
                {
                    "name": "TRKB",
                    "type": "synonym"
                },
                {
                    "name": "trk-B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16620-1",
            "evidence": [
                {
                    "id": "617830",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617830"
                },
                {
                    "id": "0080285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63604-1",
            "uniprot_ac": "Q63604",
            "uniprot_id": "NTRK2_RAT",
            "refseq_ac": "NP_001156640",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BDNF/NT-3 growth factors receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "BDNF/NT-3 growth factors receptor",
                    "type": "synonym"
                },
                {
                    "name": "GP145-TrkB/GP95-TrkB",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "Trk-B",
                    "type": "synonym"
                },
                {
                    "name": "TrkB tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "neural receptor protein-tyrosine kinase (trkB)",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor, type 2",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine receptor kinase type 2",
                    "type": "synonym"
                },
                {
                    "name": "trkB tyrosine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ntrk2",
                    "type": "recommended"
                },
                {
                    "name": "Ntrk2",
                    "type": "synonym"
                },
                {
                    "name": "RATTRKB1",
                    "type": "synonym"
                },
                {
                    "name": "TRKB1",
                    "type": "synonym"
                },
                {
                    "name": "Tkrb",
                    "type": "synonym"
                },
                {
                    "name": "Trkb",
                    "type": "synonym"
                },
                {
                    "name": "trk-B",
                    "type": "synonym"
                },
                {
                    "name": "trkB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63604-1",
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                {
                    "id": "0080285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080285"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26641-1",
            "uniprot_ac": "P26641",
            "uniprot_id": "EF1G_HUMAN",
            "refseq_ac": "NP_001395",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor 1-gamma",
                    "type": "recommended"
                },
                {
                    "name": "EF-1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PRO1608",
                    "type": "synonym"
                },
                {
                    "name": "eEF-1B gamma",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic tumor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "translation elongation factor eEF-1 gamma chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EEF1G",
                    "type": "recommended"
                },
                {
                    "name": "EEF1G",
                    "type": "synonym"
                },
                {
                    "name": "EF1G",
                    "type": "synonym"
                },
                {
                    "name": "GIG35",
                    "type": "synonym"
                },
                {
                    "name": "PRO1608",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080285",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080285"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080285"
}