{
    "disease_id": "DOID:0070705",
    "recommended_name": {
        "id": "DOID:0070705",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070705",
        "name": "dentin dysplasia type IB",
        "description": "A dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition starting in the second decade that has_material_basis_in heterozygous mutation in the VPS4B gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0700387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700387",
            "name": "dentin dysplasia, type IB",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070705"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070705",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070705",
            "categories": []
        },
        {
            "id": "MONDO:0700387",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700387",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O75351-1",
            "uniprot_ac": "O75351",
            "uniprot_id": "VPS4B_HUMAN",
            "refseq_ac": "NP_004860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 4B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "Cell migration-inducing gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein SKD1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of K(+) transport growth defect 1",
                    "type": "synonym"
                },
                {
                    "name": "cell migration-inducing 1",
                    "type": "synonym"
                },
                {
                    "name": "cell migration-inducing gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of K(+) transport growth defect 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of K+ transport defect 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 4B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS4B",
                    "type": "recommended"
                },
                {
                    "name": "DTDP1B",
                    "type": "synonym"
                },
                {
                    "name": "MIG1",
                    "type": "synonym"
                },
                {
                    "name": "SKD1B",
                    "type": "synonym"
                },
                {
                    "name": "SKD1",
                    "type": "synonym"
                },
                {
                    "name": "VPS4-2",
                    "type": "synonym"
                },
                {
                    "name": "VPS42",
                    "type": "synonym"
                },
                {
                    "name": "VPS4B",
                    "type": "synonym"
                }
            ],
            "record_id": "O75351-1",
            "evidence": [
                {
                    "id": "621440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621440"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070705"
}