{
    "disease_id": "DOID:0070400",
    "recommended_name": {
        "id": "DOID:0070400",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070400",
        "name": "hypomyelinating leukodystrophy 19",
        "description": "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0070400",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070400",
            "name": "HLD19",
            "description": ""
        },
        {
            "id": "MONDO:0032871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032871",
            "name": "leukodystrophy, hypomyelinating, 19, transient infantile",
            "description": ""
        },
        {
            "id": "MONDO:0032871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032871",
            "name": "HLD19",
            "description": ""
        },
        {
            "id": "MIM:618688",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618688",
            "name": "Leukodystrophy, hypomyelinating, 19, transient infantile",
            "description": "Leukodystrophy, hypomyelinating, 19, transient infantile"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070400"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070400",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070400",
            "categories": []
        },
        {
            "id": "MONDO:0032871",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032871",
            "categories": []
        },
        {
            "id": "MIM:618688",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618688",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TIS3-1",
            "uniprot_ac": "A0AB32TIS3",
            "uniprot_id": "A0AB32TIS3_DANRE",
            "refseq_ac": "XP_068075751",
            "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 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem63a",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-117l16.1",
                    "type": "synonym"
                },
                {
                    "name": "tmem63a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TIS3-1",
            "evidence": [
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YT8-1",
            "uniprot_ac": "Q91YT8",
            "uniprot_id": "TM63A_MOUSE",
            "refseq_ac": "NP_659043",
            "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 TMEM63A",
                    "type": "recommended"
                },
                {
                    "name": "CSC1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63A",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensitive cation channel TMEM63A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensitive cation channel TMEM63A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem63a",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0792",
                    "type": "synonym"
                },
                {
                    "name": "Tmem63a",
                    "type": "synonym"
                },
                {
                    "name": "Tmem64a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YT8-1",
            "evidence": [
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94886-1",
            "uniprot_ac": "O94886",
            "uniprot_id": "TM63A_HUMAN",
            "refseq_ac": "NP_055513",
            "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 TMEM63A",
                    "type": "recommended"
                },
                {
                    "name": "CSC1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63A",
                    "type": "synonym"
                },
                {
                    "name": "hTMEM63A",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensitive cation channel TMEM63A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM63A",
                    "type": "recommended"
                },
                {
                    "name": "HLD19",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0489",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0792",
                    "type": "synonym"
                },
                {
                    "name": "TMEM63A",
                    "type": "synonym"
                },
                {
                    "name": "hTMEM63A",
                    "type": "synonym"
                }
            ],
            "record_id": "O94886-1",
            "evidence": [
                {
                    "id": "618688",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618688"
                },
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "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": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12252-1",
            "uniprot_ac": "Q12252",
            "uniprot_id": "PHM7_YEAST",
            "refseq_ac": "NP_014557",
            "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": "Phosphate metabolism protein 7",
                    "type": "recommended"
                },
                {
                    "name": "Phm7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHM7",
                    "type": "recommended"
                },
                {
                    "name": "00953",
                    "type": "synonym"
                },
                {
                    "name": "PHM7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12252-1",
            "evidence": [
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03516-1",
            "uniprot_ac": "Q03516",
            "uniprot_id": "RSN1_YEAST",
            "refseq_ac": "NP_013993",
            "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": "Uncharacterized protein RSN1",
                    "type": "recommended"
                },
                {
                    "name": "Rescuer of SRO7 at high Nacl protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rsn1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSN1",
                    "type": "recommended"
                },
                {
                    "name": "RSN1",
                    "type": "synonym"
                },
                {
                    "name": "YM8156.08",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03516-1",
            "evidence": [
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07798-1",
            "uniprot_ac": "Q07798",
            "uniprot_id": "SPO75_YEAST",
            "refseq_ac": "NP_013096",
            "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": "Sporulation-specific protein 75",
                    "type": "recommended"
                },
                {
                    "name": "Spo75p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPO75",
                    "type": "recommended"
                },
                {
                    "name": "L1361",
                    "type": "synonym"
                },
                {
                    "name": "SPO75",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07798-1",
            "evidence": [
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LPC4-1",
            "uniprot_ac": "A0ABK0LPC4",
            "uniprot_id": "A0ABK0LPC4_RAT",
            "refseq_ac": "NP_001127968",
            "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 1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 63a",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem63a",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306829",
                    "type": "synonym"
                },
                {
                    "name": "Tmem63a",
                    "type": "synonym"
                },
                {
                    "name": "Tmem6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LPC4-1",
            "evidence": [
                {
                    "id": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        },
        {
            "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": "0070400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070400"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070400"
}