{
    "disease_id": "DOID:0112209",
    "recommended_name": {
        "id": "DOID:0112209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112209",
        "name": "developmental and epileptic encephalopathy 73",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112209",
            "name": "DEE73",
            "description": ""
        },
        {
            "id": "DOID:0112209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112209",
            "name": "early infantile epileptic encephalopathy 73",
            "description": ""
        },
        {
            "id": "MONDO:0034106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034106",
            "name": "developmental and epileptic encephalopathy, 73",
            "description": ""
        },
        {
            "id": "MONDO:0034106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034106",
            "name": "DEE73",
            "description": ""
        },
        {
            "id": "MONDO:0034106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034106",
            "name": "developmental and epileptic encephalopathy 73",
            "description": ""
        },
        {
            "id": "MONDO:0034106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034106",
            "name": "epileptic encephalopathy, early infantile, 73",
            "description": ""
        },
        {
            "id": "MONDO:0034106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034106",
            "name": "rnf13-related severe early-onset epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MIM:618379",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618379",
            "name": "Developmental and epileptic encephalopathy 73",
            "description": "Developmental and epileptic encephalopathy 73"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112209",
            "categories": []
        },
        {
            "id": "MONDO:0034106",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034106",
            "categories": []
        },
        {
            "id": "MIM:618379",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618379",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O54965-1",
            "uniprot_ac": "O54965",
            "uniprot_id": "RNF13_MOUSE",
            "refseq_ac": "NP_001106884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF13",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF13 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF13",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf13",
                    "type": "recommended"
                },
                {
                    "name": "2010001H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rnf13",
                    "type": "synonym"
                },
                {
                    "name": "Rzf",
                    "type": "synonym"
                }
            ],
            "record_id": "O54965-1",
            "evidence": [
                {
                    "id": "0112209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43567-1",
            "uniprot_ac": "O43567",
            "uniprot_id": "RNF13_HUMAN",
            "refseq_ac": "NP_009213",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF13",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF13 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF13",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "RING zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF13",
                    "type": "recommended"
                },
                {
                    "name": "DEE73",
                    "type": "synonym"
                },
                {
                    "name": "EIEE73",
                    "type": "synonym"
                },
                {
                    "name": "RNF13",
                    "type": "synonym"
                },
                {
                    "name": "RZF",
                    "type": "synonym"
                }
            ],
            "record_id": "O43567-1",
            "evidence": [
                {
                    "id": "618379",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618379"
                },
                {
                    "id": "0112209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HG0-1",
            "uniprot_ac": "Q66HG0",
            "uniprot_id": "RNF13_RAT",
            "refseq_ac": "NP_001102914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF13",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF13 precursor",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF13",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 13",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf13",
                    "type": "recommended"
                },
                {
                    "name": "Rnf13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HG0-1",
            "evidence": [
                {
                    "id": "0112209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VI20-1",
            "uniprot_ac": "Q9VI20",
            "uniprot_id": "GZL_DROME",
            "refseq_ac": "NP_001097695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Godzilla",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG10277-PD",
                    "type": "synonym"
                },
                {
                    "name": "godzilla E3 ubiquitin protein ligase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "godzilla",
                    "type": "synonym"
                },
                {
                    "name": "gzl-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gzl",
                    "type": "recommended"
                },
                {
                    "name": "CG10277",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10277",
                    "type": "synonym"
                },
                {
                    "name": "godzilla[CG10277]",
                    "type": "synonym"
                },
                {
                    "name": "godzilla",
                    "type": "synonym"
                },
                {
                    "name": "gzl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VI20-1",
            "evidence": [
                {
                    "id": "0112209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112209"
}