{
    "disease_id": "DOID:0111533",
    "recommended_name": {
        "id": "DOID:0111533",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111533",
        "name": "gnathodiaphyseal dysplasia",
        "description": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111533",
            "name": "GDD",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111533",
            "name": "Levin syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111533",
            "name": "gnathodiaphyseal sclerosis",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111533",
            "name": "osteogenesis imperfecta, Levin type",
            "description": ""
        },
        {
            "id": "DOID:0111533",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111533",
            "name": "osteogenesis imperfecta with unusual skeletal lesions",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "gnathodiaphyseal dysplasia",
            "description": "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission."
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "GDD",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "gnathodiaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "Levin syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0008151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "name": "osteogenesis imperfecta Levin type",
            "description": ""
        },
        {
            "id": "MIM:166260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166260",
            "name": "Gnathodiaphyseal dysplasia",
            "description": "Gnathodiaphyseal dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111533"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111533",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111533",
            "categories": []
        },
        {
            "id": "MONDO:0008151",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008151",
            "categories": []
        },
        {
            "id": "MIM:166260",
            "database": "MIM",
            "url": "https://www.omim.org/entry/166260",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BGR8-1",
            "uniprot_ac": "A0A8M2BGR8",
            "uniprot_id": "A0A8M2BGR8_DANRE",
            "refseq_ac": "XP_005168948",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "anoctamin-5b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ano5b",
                    "type": "recommended"
                },
                {
                    "name": "Gdd1",
                    "type": "synonym"
                },
                {
                    "name": "ano5b",
                    "type": "synonym"
                },
                {
                    "name": "si:packt73.3",
                    "type": "synonym"
                },
                {
                    "name": "si:packt90.1",
                    "type": "synonym"
                },
                {
                    "name": "si:xx-packt90.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb74d12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158430",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BGR8-1",
            "evidence": [
                {
                    "id": "0111533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9P700-1",
            "uniprot_ac": "A0A8M9P700",
            "uniprot_id": "A0A8M9P700_DANRE",
            "refseq_ac": "XP_021326432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "anoctamin-5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ano5a",
                    "type": "recommended"
                },
                {
                    "name": "ano5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P700-1",
            "evidence": [
                {
                    "id": "0111533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q75UR0-1",
            "uniprot_ac": "Q75UR0",
            "uniprot_id": "ANO5_MOUSE",
            "refseq_ac": "NP_001258808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-5",
                    "type": "recommended"
                },
                {
                    "name": "Gnathodiaphyseal dysplasia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 16E",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "gnathodiaphyseal dysplasia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein GDD1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano5",
                    "type": "recommended"
                },
                {
                    "name": "9330162L24",
                    "type": "synonym"
                },
                {
                    "name": "Ano5",
                    "type": "synonym"
                },
                {
                    "name": "Gdd1",
                    "type": "synonym"
                },
                {
                    "name": "Tmem16e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q75UR0-1",
            "evidence": [
                {
                    "id": "0111533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q75V66-1",
            "uniprot_ac": "Q75V66",
            "uniprot_id": "ANO5_HUMAN",
            "refseq_ac": "NP_001136121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-5",
                    "type": "recommended"
                },
                {
                    "name": "Gnathodiaphyseal dysplasia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 16E",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-5 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "gnathodiaphyseal dysplasia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein GDD1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANO5",
                    "type": "recommended"
                },
                {
                    "name": "ANO5",
                    "type": "synonym"
                },
                {
                    "name": "GDD1",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2L",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR12",
                    "type": "synonym"
                },
                {
                    "name": "TMEM16E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q75V66-1",
            "evidence": [
                {
                    "id": "166260",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/166260"
                },
                {
                    "id": "0111533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AJC4-1",
            "uniprot_ac": "A0A8I6AJC4",
            "uniprot_id": "A0A8I6AJC4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano5",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AJC4-1",
            "evidence": [
                {
                    "id": "0111533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI24-1",
            "uniprot_ac": "M9PI24",
            "uniprot_id": "M9PI24_DROME",
            "refseq_ac": "NP_001261733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "CG6938-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6938",
                    "type": "recommended"
                },
                {
                    "name": "CG6938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6938",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI24-1",
            "evidence": [
                {
                    "id": "0111533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111533"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111533"
}