{
    "disease_id": "DOID:0090143",
    "recommended_name": {
        "id": "DOID:0090143",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090143",
        "name": "brachyolmia-amelogenesis imperfecta syndrome",
        "description": "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0090143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090143",
            "name": "DASS",
            "description": ""
        },
        {
            "id": "DOID:0090143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090143",
            "name": "STHAG6",
            "description": ""
        },
        {
            "id": "DOID:0090143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090143",
            "name": "dental anomalies and short stature",
            "description": ""
        },
        {
            "id": "DOID:0090143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090143",
            "name": "platyspondyly with amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "DOID:0090143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090143",
            "name": "selective tooth agenesis 5",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "brachyolmia-amelogenesis imperfecta syndrome",
            "description": "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition."
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "DASS",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "Verloes-Bourguignon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "dental anomalies and short stature",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "platyspondyly with amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "platyspondyly-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "tooth agenesis, selective, 6",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "Verloes Bourguignon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "amelogenesis imperfecta and platyspondyly",
            "description": ""
        },
        {
            "id": "MONDO:0011018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "name": "skeletal dysplasia with amelogenesis imperfecta and platyspondyly",
            "description": ""
        },
        {
            "id": "MIM:601216",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601216",
            "name": "Dental anomalies and short stature",
            "description": "Dental anomalies and short stature"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090143"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090143",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090143",
            "categories": []
        },
        {
            "id": "MONDO:0011018",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011018",
            "categories": []
        },
        {
            "id": "MIM:601216",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601216",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61810-1",
            "uniprot_ac": "Q61810",
            "uniprot_id": "LTBP3_MOUSE",
            "refseq_ac": "NP_032546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-3",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp3",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp2",
                    "type": "synonym"
                },
                {
                    "name": "Ltbp3",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00070",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61810-1",
            "evidence": [
                {
                    "id": "0090143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NS15-1",
            "uniprot_ac": "Q9NS15",
            "uniprot_id": "LTBP3_HUMAN",
            "refseq_ac": "NP_001123616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "LTBP-3",
                    "type": "synonym"
                },
                {
                    "name": "latent TGF beta binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 3 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LTBP3",
                    "type": "recommended"
                },
                {
                    "name": "DASS",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD3",
                    "type": "synonym"
                },
                {
                    "name": "LTBP-3",
                    "type": "synonym"
                },
                {
                    "name": "LTBP2",
                    "type": "synonym"
                },
                {
                    "name": "LTBP3",
                    "type": "synonym"
                },
                {
                    "name": "STHAG6",
                    "type": "synonym"
                },
                {
                    "name": "pp6425",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NS15-1",
            "evidence": [
                {
                    "id": "601216",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601216"
                },
                {
                    "id": "0090143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AVC5-1",
            "uniprot_ac": "A0A8I6AVC5",
            "uniprot_id": "A0A8I6AVC5_RAT",
            "refseq_ac": "XP_063131715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Latent-transforming growth factor beta-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "latent-transforming growth factor beta-binding protein 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltbp3",
                    "type": "recommended"
                },
                {
                    "name": "Ltbp3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AVC5-1",
            "evidence": [
                {
                    "id": "0090143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090143"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090143"
}