{
    "disease_id": "DOID:0070376",
    "recommended_name": {
        "id": "DOID:0070376",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070376",
        "name": "developmental and epileptic encephalopathy 31B",
        "description": "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070376",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070376",
            "name": "DEE31B",
            "description": ""
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "developmental and epileptic encephalopathy, 31B",
            "description": "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene."
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "DNM1-encephalopathy and neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "DEE31B",
            "description": ""
        },
        {
            "id": "MONDO:0957248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "name": "developmental and epileptic encephalopathy 31B, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620352",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620352",
            "name": "Developmental and epileptic encephalopathy 31B",
            "description": "Developmental and epileptic encephalopathy 31B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070376"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070376",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070376",
            "categories": []
        },
        {
            "id": "MONDO:0957248",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957248",
            "categories": []
        },
        {
            "id": "MIM:620352",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620352",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q2T8-1",
            "uniprot_ac": "A0A8M9Q2T8",
            "uniprot_id": "A0A8M9Q2T8_DANRE",
            "refseq_ac": "XP_021331659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "dynamin GTPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1a isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnm1a",
                    "type": "recommended"
                },
                {
                    "name": "dnm1a",
                    "type": "synonym"
                },
                {
                    "name": "dnm1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-246l19.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q2T8-1",
            "evidence": [
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BCV1-1",
            "uniprot_ac": "A0A8M2BCV1",
            "uniprot_id": "A0A8M2BCV1_DANRE",
            "refseq_ac": "XP_005165639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnm1b",
                    "type": "recommended"
                },
                {
                    "name": "dnm1b",
                    "type": "synonym"
                },
                {
                    "name": "dnm1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-310g9.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCV1-1",
            "evidence": [
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39053-1",
            "uniprot_ac": "P39053",
            "uniprot_id": "DYN1_MOUSE",
            "refseq_ac": "NP_001288666",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin I",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin",
                    "type": "synonym"
                },
                {
                    "name": "dynamin I",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnm1",
                    "type": "recommended"
                },
                {
                    "name": "Dnm1",
                    "type": "synonym"
                },
                {
                    "name": "Dnm",
                    "type": "synonym"
                },
                {
                    "name": "Ftfl",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4093",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4093",
                    "type": "synonym"
                }
            ],
            "record_id": "P39053-1",
            "evidence": [
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05193-1",
            "uniprot_ac": "Q05193",
            "uniprot_id": "DYN1_HUMAN",
            "refseq_ac": "NP_001005336",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin I",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin",
                    "type": "synonym"
                },
                {
                    "name": "dynamin I",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNM1",
                    "type": "recommended"
                },
                {
                    "name": "DEE31A",
                    "type": "synonym"
                },
                {
                    "name": "DEE31B",
                    "type": "synonym"
                },
                {
                    "name": "DEE31",
                    "type": "synonym"
                },
                {
                    "name": "DNM1",
                    "type": "synonym"
                },
                {
                    "name": "DNM",
                    "type": "synonym"
                },
                {
                    "name": "EIEE31",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05193-1",
            "evidence": [
                {
                    "id": "620352",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620352"
                },
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21575-1",
            "uniprot_ac": "P21575",
            "uniprot_id": "DYN1_RAT",
            "refseq_ac": "NP_542420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "B-dynamin",
                    "type": "synonym"
                },
                {
                    "name": "D100",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin I",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin, brain",
                    "type": "synonym"
                },
                {
                    "name": "dynamin I",
                    "type": "synonym"
                },
                {
                    "name": "dynamin, brain",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnm1",
                    "type": "recommended"
                },
                {
                    "name": "Dnm1",
                    "type": "synonym"
                },
                {
                    "name": "Dnm",
                    "type": "synonym"
                }
            ],
            "record_id": "P21575-1",
            "evidence": [
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JSK1-1",
            "uniprot_ac": "A0A0G2JSK1",
            "uniprot_id": "A0A0G2JSK1_RAT",
            "refseq_ac": "NP_036789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine (or cysteine) proteinase inhibitor, clade A, member 3C",
                    "type": "synonym"
                },
                {
                    "name": "contrapsin-like protease inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone-regulated proteinase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "kallikrein-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "kallistatin",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) peptidase inhibitor, clade A, member 3K",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor 2b",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor A3K precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor A3K",
                    "type": "synonym"
                },
                {
                    "name": "serpin A3K",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone-regulated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpina3c",
                    "type": "recommended"
                },
                {
                    "name": "CPi-21",
                    "type": "synonym"
                },
                {
                    "name": "GHR-P63",
                    "type": "synonym"
                },
                {
                    "name": "Kbp",
                    "type": "synonym"
                },
                {
                    "name": "Klkbp",
                    "type": "synonym"
                },
                {
                    "name": "SPI-2.3",
                    "type": "synonym"
                },
                {
                    "name": "SPI-2",
                    "type": "synonym"
                },
                {
                    "name": "SPI2",
                    "type": "synonym"
                },
                {
                    "name": "Serpina3c",
                    "type": "synonym"
                },
                {
                    "name": "Serpina3k",
                    "type": "synonym"
                },
                {
                    "name": "Spin2b",
                    "type": "synonym"
                },
                {
                    "name": "Spin2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JSK1-1",
            "evidence": [
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27619-1",
            "uniprot_ac": "P27619",
            "uniprot_id": "DYN_DROME",
            "refseq_ac": "NP_001036278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "CG18102-PH",
                    "type": "synonym"
                },
                {
                    "name": "Protein shibire",
                    "type": "synonym"
                },
                {
                    "name": "dDyn",
                    "type": "synonym"
                },
                {
                    "name": "dynamin",
                    "type": "synonym"
                },
                {
                    "name": "shi-PH",
                    "type": "synonym"
                },
                {
                    "name": "shibere",
                    "type": "synonym"
                },
                {
                    "name": "shibire, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "shibire",
                    "type": "synonym"
                },
                {
                    "name": "shibiri",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shi",
                    "type": "recommended"
                },
                {
                    "name": "CG18102",
                    "type": "synonym"
                },
                {
                    "name": "DNM3",
                    "type": "synonym"
                },
                {
                    "name": "DYN",
                    "type": "synonym"
                },
                {
                    "name": "Ddyn3",
                    "type": "synonym"
                },
                {
                    "name": "Ddyn4",
                    "type": "synonym"
                },
                {
                    "name": "Ddyn",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18102",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18102",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin",
                    "type": "synonym"
                },
                {
                    "name": "Dyn",
                    "type": "synonym"
                },
                {
                    "name": "Shibire",
                    "type": "synonym"
                },
                {
                    "name": "Shi",
                    "type": "synonym"
                },
                {
                    "name": "Vps1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.12",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.13",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.14",
                    "type": "synonym"
                },
                {
                    "name": "dDyn",
                    "type": "synonym"
                },
                {
                    "name": "dynamin",
                    "type": "synonym"
                },
                {
                    "name": "dyn",
                    "type": "synonym"
                },
                {
                    "name": "l(1)VII",
                    "type": "synonym"
                },
                {
                    "name": "l(1)shi",
                    "type": "synonym"
                },
                {
                    "name": "shibere",
                    "type": "synonym"
                },
                {
                    "name": "shib",
                    "type": "synonym"
                },
                {
                    "name": "shi",
                    "type": "synonym"
                },
                {
                    "name": "shu",
                    "type": "synonym"
                }
            ],
            "record_id": "P27619-1",
            "evidence": [
                {
                    "id": "0070376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070376"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070376"
}