{
    "disease_id": "DOID:0070380",
    "recommended_name": {
        "id": "DOID:0070380",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070380",
        "name": "developmental and epileptic encephalopathy 85",
        "description": "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0070380",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070380",
            "name": "DEE85",
            "description": ""
        },
        {
            "id": "DOID:0070380",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070380",
            "name": "early infantile epileptic encephalopathy 85",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "developmental and epileptic encephalopathy, 85, with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "DEE85, with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "EIEE85",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "epileptic encephalopathy, early infantile, 85, with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MIM:301044",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301044",
            "name": "Developmental and epileptic encephalopathy 85 with or without midline brain defects",
            "description": "Developmental and epileptic encephalopathy 85 with or without midline brain defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070380"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070380",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070380",
            "categories": []
        },
        {
            "id": "MONDO:0026771",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "categories": []
        },
        {
            "id": "MIM:301044",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301044",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F0X6-1",
            "uniprot_ac": "E7F0X6",
            "uniprot_id": "E7F0X6_DANRE",
            "refseq_ac": "NP_001155103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein",
                    "type": "recommended"
                },
                {
                    "name": "structural maintenance of chromosomes protein 1A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smc1a",
                    "type": "recommended"
                },
                {
                    "name": "sb:eu719",
                    "type": "synonym"
                },
                {
                    "name": "smc1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0X6-1",
            "evidence": [
                {
                    "id": "0070380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CU62-1",
            "uniprot_ac": "Q9CU62",
            "uniprot_id": "SMC1A_MOUSE",
            "refseq_ac": "NP_062684",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "Chromosome segregation protein SmcB",
                    "type": "synonym"
                },
                {
                    "name": "SMC (segregation of mitotic chromosomes 1)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "SMC protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1A",
                    "type": "synonym"
                },
                {
                    "name": "Sb1.8",
                    "type": "synonym"
                },
                {
                    "name": "chromosome segregation protein SmcB",
                    "type": "synonym"
                },
                {
                    "name": "segregation of mitotic chromosomes b",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes protein 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smc1a",
                    "type": "recommended"
                },
                {
                    "name": "5830426I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1A",
                    "type": "synonym"
                },
                {
                    "name": "Sb1.8",
                    "type": "synonym"
                },
                {
                    "name": "Smc1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Smc1a",
                    "type": "synonym"
                },
                {
                    "name": "Smc1l1",
                    "type": "synonym"
                },
                {
                    "name": "Smc1",
                    "type": "synonym"
                },
                {
                    "name": "Smcb",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0178",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CU62-1",
            "evidence": [
                {
                    "id": "0070380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14683-1",
            "uniprot_ac": "Q14683",
            "uniprot_id": "SMC1A_HUMAN",
            "refseq_ac": "NP_006297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "SMC protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1A",
                    "type": "synonym"
                },
                {
                    "name": "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Sb1.8",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "segregation of mitotic chromosomes 1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes protein 1A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMC1A",
                    "type": "recommended"
                },
                {
                    "name": "CDLS2",
                    "type": "synonym"
                },
                {
                    "name": "DEE85",
                    "type": "synonym"
                },
                {
                    "name": "DXS423E",
                    "type": "synonym"
                },
                {
                    "name": "EIEE85",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0178",
                    "type": "synonym"
                },
                {
                    "name": "SB1.8",
                    "type": "synonym"
                },
                {
                    "name": "SMC1A",
                    "type": "synonym"
                },
                {
                    "name": "SMC1L1",
                    "type": "synonym"
                },
                {
                    "name": "SMC1alpha",
                    "type": "synonym"
                },
                {
                    "name": "SMC1",
                    "type": "synonym"
                },
                {
                    "name": "SMCB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14683-1",
            "evidence": [
                {
                    "id": "301044",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301044"
                },
                {
                    "id": "0070380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32908-1",
            "uniprot_ac": "P32908",
            "uniprot_id": "SMC1_YEAST",
            "refseq_ac": "NP_116647",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 1",
                    "type": "recommended"
                },
                {
                    "name": "DA-box protein SMC1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SMC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMC1",
                    "type": "recommended"
                },
                {
                    "name": "CHL10",
                    "type": "synonym"
                },
                {
                    "name": "SMC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32908-1",
            "evidence": [
                {
                    "id": "0070380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1M9-1",
            "uniprot_ac": "Q9Z1M9",
            "uniprot_id": "SMC1A_RAT",
            "refseq_ac": "NP_113871",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "DXhXs423e",
                    "type": "synonym"
                },
                {
                    "name": "SMC (segregation of mitotic chromosomes 1)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "SMC protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1A",
                    "type": "synonym"
                },
                {
                    "name": "SMC-like 1",
                    "type": "synonym"
                },
                {
                    "name": "SMC-protein",
                    "type": "synonym"
                },
                {
                    "name": "segregation of mitotic chromosomes-like 1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes 1 like 1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes protein 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smc1a",
                    "type": "recommended"
                },
                {
                    "name": "SB1.8",
                    "type": "synonym"
                },
                {
                    "name": "SMC-1A",
                    "type": "synonym"
                },
                {
                    "name": "Smc1a",
                    "type": "synonym"
                },
                {
                    "name": "Smc1l1",
                    "type": "synonym"
                },
                {
                    "name": "Smc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1M9-1",
            "evidence": [
                {
                    "id": "0070380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCD8-1",
            "uniprot_ac": "Q9VCD8",
            "uniprot_id": "Q9VCD8_DROME",
            "refseq_ac": "NP_651211",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structural maintenance of chromosomes protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6057-PA",
                    "type": "synonym"
                },
                {
                    "name": "SMC1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Smc1 cohesin subunit",
                    "type": "synonym"
                },
                {
                    "name": "cohesin complex subunit SMC1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SMC1",
                    "type": "synonym"
                },
                {
                    "name": "structural maintenance of chromosomes 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMC1",
                    "type": "recommended"
                },
                {
                    "name": "AAF56231",
                    "type": "synonym"
                },
                {
                    "name": "CG6057",
                    "type": "synonym"
                },
                {
                    "name": "DmSMC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6057",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6057",
                    "type": "synonym"
                },
                {
                    "name": "SMC1",
                    "type": "synonym"
                },
                {
                    "name": "Smc1",
                    "type": "synonym"
                },
                {
                    "name": "dSMC1",
                    "type": "synonym"
                },
                {
                    "name": "smc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCD8-1",
            "evidence": [
                {
                    "id": "0070380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070380"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070380"
}