{
    "disease_id": "DOID:0050814",
    "recommended_name": {
        "id": "DOID:0050814",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050814",
        "name": "temtamy preaxial brachydactyly syndrome",
        "description": "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050814",
            "name": "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "temtamy preaxial brachydactyly syndrome",
            "description": "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene."
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "preaxial brachydactyly syndrome, TEMTAMY type",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "temtamy preaxial brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "TPBS",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0011533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "name": "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies",
            "description": ""
        },
        {
            "id": "MIM:605282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605282",
            "name": "Temtamy preaxial brachydactyly syndrome",
            "description": "Temtamy preaxial brachydactyly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050814"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050814",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050814",
            "categories": []
        },
        {
            "id": "MONDO:0011533",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011533",
            "categories": []
        },
        {
            "id": "MIM:605282",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605282",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q86X52-1",
            "uniprot_ac": "Q86X52",
            "uniprot_id": "CHSS1_HUMAN",
            "refseq_ac": "NP_055733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chondroitin sulfate synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.175",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.226",
                    "type": "synonym"
                },
                {
                    "name": "ChSy-1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin glucuronyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin sulfate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHSY1",
                    "type": "recommended"
                },
                {
                    "name": "CHSY1",
                    "type": "synonym"
                },
                {
                    "name": "CHSY",
                    "type": "synonym"
                },
                {
                    "name": "CSS1",
                    "type": "synonym"
                },
                {
                    "name": "ChSy-1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0990",
                    "type": "synonym"
                },
                {
                    "name": "PRO1487",
                    "type": "synonym"
                },
                {
                    "name": "TPBS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86X52-1",
            "evidence": [
                {
                    "id": "22856",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/22856#disease"
                },
                {
                    "id": "0011533",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011533"
                },
                {
                    "id": "605282",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605282"
                },
                {
                    "id": "CHSY1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHSY1/#!details"
                },
                {
                    "id": "0050814",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050814"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZQ11-1",
            "uniprot_ac": "Q6ZQ11",
            "uniprot_id": "CHSS1_MOUSE",
            "refseq_ac": "NP_001074632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chondroitin sulfate synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.175",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.226",
                    "type": "synonym"
                },
                {
                    "name": "ChSy-1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate (chondroitin) synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin sulfate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chsy1",
                    "type": "recommended"
                },
                {
                    "name": "Chsy1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0990",
                    "type": "synonym"
                },
                {
                    "name": "skt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQ11-1",
            "evidence": [
                {
                    "id": "0050814",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050814"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZRM3-1",
            "uniprot_ac": "D3ZRM3",
            "uniprot_id": "D3ZRM3_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": "Hexosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chsy1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZRM3-1",
            "evidence": [
                {
                    "id": "0050814",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050814"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KUZ9-1",
            "uniprot_ac": "Q7KUZ9",
            "uniprot_id": "Q7KUZ9_DROME",
            "refseq_ac": "NP_001285280",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG9220-PD",
                    "type": "synonym"
                },
                {
                    "name": "Chsy-PD",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin sulfate synthase, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chsy",
                    "type": "recommended"
                },
                {
                    "name": "CG9220",
                    "type": "synonym"
                },
                {
                    "name": "Chsy",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9220",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9220",
                    "type": "synonym"
                },
                {
                    "name": "dCHSY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KUZ9-1",
            "evidence": [
                {
                    "id": "0050814",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050814"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050814"
}