{
    "disease_id": "DOID:0070405",
    "recommended_name": {
        "id": "DOID:0070405",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070405",
        "name": "hypomyelinating leukodystrophy 16",
        "description": "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070405",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070405",
            "name": "HLD16",
            "description": ""
        },
        {
            "id": "MONDO:0054791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054791",
            "name": "leukodystrophy, hypomyelinating, 16",
            "description": ""
        },
        {
            "id": "MONDO:0054791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054791",
            "name": "leukodystrophy, hypomyelinating, 16",
            "description": ""
        },
        {
            "id": "MONDO:0054791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054791",
            "name": "HLD16",
            "description": ""
        },
        {
            "id": "MIM:617964",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617964",
            "name": "Leukodystrophy, hypomyelinating, 16",
            "description": "Leukodystrophy, hypomyelinating, 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070405"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070405",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070405",
            "categories": []
        },
        {
            "id": "MONDO:0054791",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054791",
            "categories": []
        },
        {
            "id": "MIM:617964",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617964",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LWC2-1",
            "uniprot_ac": "Q1LWC2",
            "uniprot_id": "T106B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 106B",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem106bb",
                    "type": "recommended"
                },
                {
                    "name": "tmem106b",
                    "type": "recommended"
                },
                {
                    "name": "ch211-134n17.2",
                    "type": "synonym"
                },
                {
                    "name": "ch211-195l15.2",
                    "type": "synonym"
                },
                {
                    "name": "tmem106b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114147",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LWC2-1",
            "evidence": [
                {
                    "id": "0070405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QCQ2-1",
            "uniprot_ac": "F1QCQ2",
            "uniprot_id": "F1QCQ2_DANRE",
            "refseq_ac": "NP_956656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 106B",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 106Ba",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem106ba",
                    "type": "recommended"
                },
                {
                    "name": "tmem106ba",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64013",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QCQ2-1",
            "evidence": [
                {
                    "id": "0070405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X71-1",
            "uniprot_ac": "Q80X71",
            "uniprot_id": "T106B_MOUSE",
            "refseq_ac": "NP_082268",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 106B",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 106B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem106b",
                    "type": "recommended"
                },
                {
                    "name": "2310036D22Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830455K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "6430519M21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem106b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X71-1",
            "evidence": [
                {
                    "id": "0070405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NUM4-1",
            "uniprot_ac": "Q9NUM4",
            "uniprot_id": "T106B_HUMAN",
            "refseq_ac": "NP_001127704",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 106B",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 106B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM106B",
                    "type": "recommended"
                },
                {
                    "name": "HLD16",
                    "type": "synonym"
                },
                {
                    "name": "TMEM106B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUM4-1",
            "evidence": [
                {
                    "id": "617964",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617964"
                },
                {
                    "id": "0070405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070405"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYA5-1",
            "uniprot_ac": "Q6AYA5",
            "uniprot_id": "T106B_RAT",
            "refseq_ac": "NP_001004267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 106B",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 106B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem106b",
                    "type": "recommended"
                },
                {
                    "name": "LRRGT00101",
                    "type": "synonym"
                },
                {
                    "name": "Tmem106b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYA5-1",
            "evidence": [
                {
                    "id": "0070405",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070405"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070405"
}