{
    "disease_id": "DOID:0061176",
    "recommended_name": {
        "id": "DOID:0061176",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061176",
        "name": "developmental and epileptic encephalopathy 118",
        "description": "A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0979238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979238",
            "name": "developmental and epileptic encephalopathy 118",
            "description": ""
        },
        {
            "id": "MIM:621250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621250",
            "name": "Developmental and epileptic encephalopathy 118",
            "description": "Developmental and epileptic encephalopathy 118"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061176"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061176",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061176",
            "categories": []
        },
        {
            "id": "MONDO:0979238",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979238",
            "categories": []
        },
        {
            "id": "MIM:621250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IKF9-1",
            "uniprot_ac": "A0A0R4IKF9",
            "uniprot_id": "A0A0R4IKF9_DANRE",
            "refseq_ac": "XP_005157122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CSC1-like protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem63ba",
                    "type": "recommended"
                },
                {
                    "name": "tmem63ba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IKF9-1",
            "evidence": [
                {
                    "id": "0061176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TWI9-1",
            "uniprot_ac": "Q3TWI9",
            "uniprot_id": "TM63B_MOUSE",
            "refseq_ac": "NP_937810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mechanosensitive cation channel TMEM63B",
                    "type": "recommended"
                },
                {
                    "name": "CSC1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63B",
                    "type": "synonym"
                },
                {
                    "name": "mTMEM63B",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensitive cation channel TMEM63B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensitive cation channel TMEM63B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem63b",
                    "type": "recommended"
                },
                {
                    "name": "Tmem63b",
                    "type": "synonym"
                },
                {
                    "name": "mTMEM63B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TWI9-1",
            "evidence": [
                {
                    "id": "0061176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T3F8-1",
            "uniprot_ac": "Q5T3F8",
            "uniprot_id": "TM63B_HUMAN",
            "refseq_ac": "NP_001305721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mechanosensitive cation channel TMEM63B",
                    "type": "recommended"
                },
                {
                    "name": "CSC1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63B",
                    "type": "synonym"
                },
                {
                    "name": "hTMEM63B",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensitive cation channel TMEM63B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM63B",
                    "type": "recommended"
                },
                {
                    "name": "C6orf110",
                    "type": "synonym"
                },
                {
                    "name": "DEE118",
                    "type": "synonym"
                },
                {
                    "name": "TMEM63B",
                    "type": "synonym"
                },
                {
                    "name": "hTMEM63B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T3F8-1",
            "evidence": [
                {
                    "id": "621250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621250"
                },
                {
                    "id": "0061176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06538-1",
            "uniprot_ac": "Q06538",
            "uniprot_id": "CSC1_YEAST",
            "refseq_ac": "NP_013342",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium permeable stress-gated cation channel 1",
                    "type": "recommended"
                },
                {
                    "name": "Csc1p",
                    "type": "synonym"
                },
                {
                    "name": "ScCSC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSC1",
                    "type": "recommended"
                },
                {
                    "name": "CSC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06538-1",
            "evidence": [
                {
                    "id": "0061176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A105-1",
            "uniprot_ac": "D4A105",
            "uniprot_id": "D4A105_RAT",
            "refseq_ac": "NP_001414642",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CSC1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63B",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 63B, pseudogene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem63b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305862",
                    "type": "synonym"
                },
                {
                    "name": "Tmem63b-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Tmem63b",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A105-1",
            "evidence": [
                {
                    "id": "0061176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061176"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NP91-1",
            "uniprot_ac": "Q6NP91",
            "uniprot_id": "TM63_DROME",
            "refseq_ac": "NP_610351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mechanosensitive cation channel Tmem63",
                    "type": "recommended"
                },
                {
                    "name": "CG11210-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmTMEM63",
                    "type": "synonym"
                },
                {
                    "name": "Tmem63-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem63",
                    "type": "recommended"
                },
                {
                    "name": "CG11210",
                    "type": "synonym"
                },
                {
                    "name": "CT31310",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11210",
                    "type": "synonym"
                },
                {
                    "name": "OSCA/TMEM63",
                    "type": "synonym"
                },
                {
                    "name": "TMEM63",
                    "type": "synonym"
                },
                {
                    "name": "Tmem63",
                    "type": "synonym"
                },
                {
                    "name": "tmem63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NP91-1",
            "evidence": [
                {
                    "id": "0061176",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061176"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061176"
}