{
    "disease_id": "DOID:0070401",
    "recommended_name": {
        "id": "DOID:0070401",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070401",
        "name": "hypomyelinating leukodystrophy 25",
        "description": "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070401",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070401",
            "name": "HLD25",
            "description": ""
        },
        {
            "id": "MONDO:0859378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859378",
            "name": "leukodystrophy, hypomyelinating, 25",
            "description": ""
        },
        {
            "id": "MIM:620243",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620243",
            "name": "Leukodystrophy, hypomyelinating, 25",
            "description": "Leukodystrophy, hypomyelinating, 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070401"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070401",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070401",
            "categories": []
        },
        {
            "id": "MONDO:0859378",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859378",
            "categories": []
        },
        {
            "id": "MIM:620243",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620243",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0UY98-1",
            "uniprot_ac": "B0UY98",
            "uniprot_id": "T163A_DANRE",
            "refseq_ac": "NP_001122008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 163a",
                    "type": "recommended"
                },
                {
                    "name": "tmem163",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 163a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem163a",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-57b6.2",
                    "type": "synonym"
                },
                {
                    "name": "tmem163a",
                    "type": "synonym"
                }
            ],
            "record_id": "B0UY98-1",
            "evidence": [
                {
                    "id": "0070401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F2Z4R5-1",
            "uniprot_ac": "F2Z4R5",
            "uniprot_id": "T163B_DANRE",
            "refseq_ac": "NP_001410777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 163b",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 163b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem163b",
                    "type": "recommended"
                },
                {
                    "name": "si:ch73-125n14.1",
                    "type": "synonym"
                },
                {
                    "name": "tmem163b",
                    "type": "synonym"
                }
            ],
            "record_id": "F2Z4R5-1",
            "evidence": [
                {
                    "id": "0070401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C996-1",
            "uniprot_ac": "Q8C996",
            "uniprot_id": "TM163_MOUSE",
            "refseq_ac": "NP_082411",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 163",
                    "type": "recommended"
                },
                {
                    "name": "Synaptic vesicle membrane protein of 31 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TgN(ACTB-cre)2Mrt",
                    "type": "synonym"
                },
                {
                    "name": "beta-actin-cre",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicle membrane protein of 31 kDa",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 163",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem163",
                    "type": "recommended"
                },
                {
                    "name": "2610024A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "A-cre",
                    "type": "synonym"
                },
                {
                    "name": "Act-Cre",
                    "type": "synonym"
                },
                {
                    "name": "SV31",
                    "type": "synonym"
                },
                {
                    "name": "Sv31",
                    "type": "synonym"
                },
                {
                    "name": "Tg(ACTB-cre)2Mrt",
                    "type": "synonym"
                },
                {
                    "name": "Tmem163",
                    "type": "synonym"
                },
                {
                    "name": "actin-cre",
                    "type": "synonym"
                },
                {
                    "name": "cre<actin>",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C996-1",
            "evidence": [
                {
                    "id": "0070401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TC26-1",
            "uniprot_ac": "Q8TC26",
            "uniprot_id": "TM163_HUMAN",
            "refseq_ac": "NP_112185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 163",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 163",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM163",
                    "type": "recommended"
                },
                {
                    "name": "DC29",
                    "type": "synonym"
                },
                {
                    "name": "HLD25",
                    "type": "synonym"
                },
                {
                    "name": "SLC30A11",
                    "type": "synonym"
                },
                {
                    "name": "SV31",
                    "type": "synonym"
                },
                {
                    "name": "TMEM163",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TC26-1",
            "evidence": [
                {
                    "id": "620243",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620243"
                },
                {
                    "id": "0070401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A9CMA6-1",
            "uniprot_ac": "A9CMA6",
            "uniprot_id": "TM163_RAT",
            "refseq_ac": "NP_001104233",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 163",
                    "type": "recommended"
                },
                {
                    "name": "Synaptic vesicle membrane protein of 31 kDa",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicle membrane protein of 31 kDa",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicle protein of 30 kD",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 163",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem163",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306212",
                    "type": "synonym"
                },
                {
                    "name": "Sv31",
                    "type": "synonym"
                },
                {
                    "name": "Tmem163",
                    "type": "synonym"
                }
            ],
            "record_id": "A9CMA6-1",
            "evidence": [
                {
                    "id": "0070401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070401"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070401"
}