{
    "disease_id": "DOID:0070392",
    "recommended_name": {
        "id": "DOID:0070392",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070392",
        "name": "developmental and epileptic encephalopathy 106",
        "description": "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "DOID:0070392",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070392",
            "name": "DEE106",
            "description": ""
        },
        {
            "id": "DOID:0070392",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070392",
            "name": "early infantile epileptic encephalopathy 106",
            "description": ""
        },
        {
            "id": "MONDO:0031052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031052",
            "name": "developmental and epileptic encephalopathy 106",
            "description": ""
        },
        {
            "id": "MONDO:0031052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031052",
            "name": "DEE106",
            "description": ""
        },
        {
            "id": "MONDO:0031052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031052",
            "name": "developmental and epileptic encephalopathy 106",
            "description": ""
        },
        {
            "id": "MIM:620028",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620028",
            "name": "Developmental and epileptic encephalopathy 106",
            "description": "Developmental and epileptic encephalopathy 106"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070392"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070392",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070392",
            "categories": []
        },
        {
            "id": "MONDO:0031052",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031052",
            "categories": []
        },
        {
            "id": "MIM:620028",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620028",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T347-1",
            "uniprot_ac": "Q7T347",
            "uniprot_id": "UFSP2_DANRE",
            "refseq_ac": "NP_942105",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ufm1-specific protease 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "UfSP2",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-specific protease 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-specific protease 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ufsp2",
                    "type": "recommended"
                },
                {
                    "name": "cb891",
                    "type": "synonym"
                },
                {
                    "name": "fb05c06",
                    "type": "synonym"
                },
                {
                    "name": "fk89d04",
                    "type": "synonym"
                },
                {
                    "name": "ufsp2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb05c06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk89d04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64113",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T347-1",
            "evidence": [
                {
                    "id": "0070392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99K23-1",
            "uniprot_ac": "Q99K23",
            "uniprot_id": "UFSP2_MOUSE",
            "refseq_ac": "NP_619609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ufm1-specific protease 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "UfSP2",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-specific protease 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufsp2",
                    "type": "recommended"
                },
                {
                    "name": "1810047C23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ufsp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99K23-1",
            "evidence": [
                {
                    "id": "0070392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NUQ7-1",
            "uniprot_ac": "Q9NUQ7",
            "uniprot_id": "UFSP2_HUMAN",
            "refseq_ac": "NP_060829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ufm1-specific protease 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "UfSP2",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-specific protease 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UFSP2",
                    "type": "recommended"
                },
                {
                    "name": "BHD",
                    "type": "synonym"
                },
                {
                    "name": "C4orf20",
                    "type": "synonym"
                },
                {
                    "name": "DEE106",
                    "type": "synonym"
                },
                {
                    "name": "SEMDDR",
                    "type": "synonym"
                },
                {
                    "name": "UFSP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUQ7-1",
            "evidence": [
                {
                    "id": "620028",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620028"
                },
                {
                    "id": "0070392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIB4-1",
            "uniprot_ac": "Q5XIB4",
            "uniprot_id": "UFSP2_RAT",
            "refseq_ac": "NP_001014164",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ufm1-specific protease 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "UfSP2",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-specific protease 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufsp2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311161",
                    "type": "synonym"
                },
                {
                    "name": "Ufsp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIB4-1",
            "evidence": [
                {
                    "id": "0070392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUR0-1",
            "uniprot_ac": "Q9VUR0",
            "uniprot_id": "UFSP2_DROME",
            "refseq_ac": "NP_648779",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable Ufm1-specific protease 2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "CG16979-PA",
                    "type": "synonym"
                },
                {
                    "name": "UFM1 specific peptidase 2",
                    "type": "synonym"
                },
                {
                    "name": "UfSP2",
                    "type": "synonym"
                },
                {
                    "name": "Ufsp2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufsp2",
                    "type": "recommended"
                },
                {
                    "name": "CG16979",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16979",
                    "type": "synonym"
                },
                {
                    "name": "UfSP2",
                    "type": "synonym"
                },
                {
                    "name": "Ufsp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUR0-1",
            "evidence": [
                {
                    "id": "0070392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070392"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070392"
}