{
    "disease_id": "DOID:0080575",
    "recommended_name": {
        "id": "DOID:0080575",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080575",
        "name": "Larsen-like syndrome B3GAT3 type",
        "description": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "DOID:0080575",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080575",
            "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080575",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080575",
            "name": "Larsen-like syndrome, B3GAT3 type",
            "description": ""
        },
        {
            "id": "MONDO:0009511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009511",
            "name": "Larsen-like syndrome, B3GAT3 type",
            "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."
        },
        {
            "id": "MONDO:0009511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009511",
            "name": "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects",
            "description": ""
        },
        {
            "id": "MONDO:0009511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009511",
            "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009511",
            "name": "JDSCD",
            "description": ""
        },
        {
            "id": "MONDO:0009511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009511",
            "name": "Larsen syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:245600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/245600",
            "name": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects",
            "description": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080575"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080575",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080575",
            "categories": []
        },
        {
            "id": "MONDO:0009511",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009511",
            "categories": []
        },
        {
            "id": "MIM:245600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/245600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O94766-1",
            "uniprot_ac": "O94766",
            "uniprot_id": "B3GA3_HUMAN",
            "refseq_ac": "NP_001275652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-glucuronyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GlcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "GlcUAT-I",
                    "type": "synonym"
                },
                {
                    "name": "Glucuronosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "Sqv-8-like protein",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)",
                    "type": "synonym"
                },
                {
                    "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3GAT3",
                    "type": "recommended"
                },
                {
                    "name": "B3GAT3",
                    "type": "synonym"
                },
                {
                    "name": "GLCATI",
                    "type": "synonym"
                },
                {
                    "name": "JDSCD",
                    "type": "synonym"
                },
                {
                    "name": "glcUAT-I",
                    "type": "synonym"
                }
            ],
            "record_id": "O94766-1",
            "evidence": [
                {
                    "id": "26229",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/26229#disease"
                },
                {
                    "id": "0009511",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009511"
                },
                {
                    "id": "245600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/245600"
                },
                {
                    "id": "B3GAT3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B3GAT3/#!details"
                },
                {
                    "id": "0080575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F8W289-1",
            "uniprot_ac": "F8W289",
            "uniprot_id": "F8W289_DANRE",
            "refseq_ac": "NP_001015059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.135",
                    "type": "synonym"
                },
                {
                    "name": "3-glucuronyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "beta3-glucuronyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b3gat3",
                    "type": "recommended"
                },
                {
                    "name": "CHUNP6865",
                    "type": "synonym"
                },
                {
                    "name": "b3gat3",
                    "type": "synonym"
                },
                {
                    "name": "fe01c06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe01c06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112070",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W289-1",
            "evidence": [
                {
                    "id": "0080575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58158-1",
            "uniprot_ac": "P58158",
            "uniprot_id": "B3GA3_MOUSE",
            "refseq_ac": "NP_077218",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-glucuronyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GlcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "GlcUAT-I",
                    "type": "synonym"
                },
                {
                    "name": "Glucuronosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "glcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "glcUAT-I",
                    "type": "synonym"
                },
                {
                    "name": "glucuronosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "glucuronyltransferase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3gat3",
                    "type": "recommended"
                },
                {
                    "name": "2810405M13Rik",
                    "type": "synonym"
                },
                {
                    "name": "B3gat3",
                    "type": "synonym"
                }
            ],
            "record_id": "P58158-1",
            "evidence": [
                {
                    "id": "0080575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4R1-1",
            "uniprot_ac": "D4A4R1",
            "uniprot_id": "D4A4R1_RAT",
            "refseq_ac": "XP_006231069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Echinoderm microtubule-associated protein-like 3",
                    "type": "recommended"
                },
                {
                    "name": "echinoderm microtubule-associated protein-like 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3gat3",
                    "type": "recommended"
                },
                {
                    "name": "Eml3",
                    "type": "recommended"
                },
                {
                    "name": "B3gat3",
                    "type": "synonym"
                },
                {
                    "name": "Eml3",
                    "type": "synonym"
                },
                {
                    "name": "LOC102551660",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311368",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A4R1-1",
            "evidence": [
                {
                    "id": "0080575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O97422-1",
            "uniprot_ac": "O97422",
            "uniprot_id": "B3GI_DROME",
            "refseq_ac": "NP_726910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase I",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-glucuronyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "CG32775-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmGlcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "GlcAT-I-PA",
                    "type": "synonym"
                },
                {
                    "name": "GlcUAT-I",
                    "type": "synonym"
                },
                {
                    "name": "Glucuronosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucuronyltransferase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GlcAT-I",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH05057",
                    "type": "synonym"
                },
                {
                    "name": "CAA21824",
                    "type": "synonym"
                },
                {
                    "name": "CG32775",
                    "type": "synonym"
                },
                {
                    "name": "DGlcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "DmGlcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32775",
                    "type": "synonym"
                },
                {
                    "name": "EG:EG0007.5",
                    "type": "synonym"
                },
                {
                    "name": "GH05057p",
                    "type": "synonym"
                },
                {
                    "name": "GlcAT-I",
                    "type": "synonym"
                },
                {
                    "name": "GlcAT1",
                    "type": "synonym"
                },
                {
                    "name": "RE38067",
                    "type": "synonym"
                },
                {
                    "name": "dGlcAT-I",
                    "type": "synonym"
                }
            ],
            "record_id": "O97422-1",
            "evidence": [
                {
                    "id": "0080575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080575"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080575"
}