{
    "disease_id": "DOID:0070651",
    "recommended_name": {
        "id": "DOID:0070651",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070651",
        "name": "neurodevelopmental disorder with seizures and gingival overgrowth",
        "description": "A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles."
    },
    "synonyms": [
        {
            "id": "MONDO:0859148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859148",
            "name": "neurodevelopmental disorder with seizures and gingival overgrowth",
            "description": ""
        },
        {
            "id": "MIM:619323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619323",
            "name": "Neurodevelopmental disorder with seizures and gingival overgrowth",
            "description": "Neurodevelopmental disorder with seizures and gingival overgrowth"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070651"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070651",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070651",
            "categories": []
        },
        {
            "id": "MONDO:0859148",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859148",
            "categories": []
        },
        {
            "id": "MIM:619323",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619323",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5Q6-1",
            "uniprot_ac": "A0ACD6B5Q6",
            "uniprot_id": "A0ACD6B5Q6_DANRE",
            "refseq_ac": "XP_002666912",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 2B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbc1d2b",
                    "type": "recommended"
                },
                {
                    "name": "tbc1d2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5Q6-1",
            "evidence": [
                {
                    "id": "0070651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070651"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U0J8-1",
            "uniprot_ac": "Q3U0J8",
            "uniprot_id": "TBD2B_MOUSE",
            "refseq_ac": "NP_919315",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 2B",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 2B isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d2b",
                    "type": "recommended"
                },
                {
                    "name": "1810061M12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1055",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d2b",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1055",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U0J8-1",
            "evidence": [
                {
                    "id": "0070651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070651"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPU7-1",
            "uniprot_ac": "Q9UPU7",
            "uniprot_id": "TBD2B_HUMAN",
            "refseq_ac": "NP_055894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 2B",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 2B isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBC1D2B",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1055",
                    "type": "synonym"
                },
                {
                    "name": "NEDSGO",
                    "type": "synonym"
                },
                {
                    "name": "TBC1D2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPU7-1",
            "evidence": [
                {
                    "id": "619323",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619323"
                },
                {
                    "id": "0070651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070651"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ALB6-1",
            "uniprot_ac": "A0A8I6ALB6",
            "uniprot_id": "A0A8I6ALB6_RAT",
            "refseq_ac": "NP_001400723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 2B",
                    "type": "synonym"
                },
                {
                    "name": "TBC1 domain family, member 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d2b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1307436",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ALB6-1",
            "evidence": [
                {
                    "id": "0070651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070651"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070651"
}