{
    "disease_id": "DOID:0080736",
    "recommended_name": {
        "id": "DOID:0080736",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080736",
        "name": "Ehlers-Danlos syndrome musculocontractural type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "EDSMC",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "EDSMC1",
            "description": ""
        },
        {
            "id": "MIM:601776",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601776",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 1",
            "description": "Ehlers-Danlos syndrome, musculocontractural type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080736"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080736",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080736",
            "categories": []
        },
        {
            "id": "MONDO:0020681",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "categories": []
        },
        {
            "id": "MIM:601776",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601776",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8NCH0-1",
            "uniprot_ac": "Q8NCH0",
            "uniprot_id": "CHSTE_HUMAN",
            "refseq_ac": "NP_569735",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate sulfotransferase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.35",
                    "type": "synonym"
                },
                {
                    "name": "D4ST-1",
                    "type": "synonym"
                },
                {
                    "name": "Dermatan 4-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate (dermatan 4) sulfotransferase 14",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate sulfotransferase 14",
                    "type": "synonym"
                },
                {
                    "name": "dermatan 4 sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hD4ST1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHST14",
                    "type": "recommended"
                },
                {
                    "name": "ATCS",
                    "type": "synonym"
                },
                {
                    "name": "CHST14",
                    "type": "synonym"
                },
                {
                    "name": "D4ST1",
                    "type": "synonym"
                },
                {
                    "name": "EDSMC1",
                    "type": "synonym"
                },
                {
                    "name": "HNK1ST",
                    "type": "synonym"
                },
                {
                    "name": "PRO4400",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NCH0-1",
            "evidence": [
                {
                    "id": "113189",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/113189#disease"
                },
                {
                    "id": "601776",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601776"
                },
                {
                    "id": "CHST14",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST14/#!details"
                },
                {
                    "id": "0080736",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080736"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q805E5-1",
            "uniprot_ac": "Q805E5",
            "uniprot_id": "CHSTE_DANRE",
            "refseq_ac": "NP_997994",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate sulfotransferase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "D4ST-1",
                    "type": "synonym"
                },
                {
                    "name": "Dermatan 4-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate sulfotransferase 14",
                    "type": "synonym"
                },
                {
                    "name": "dermatan 4-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "zD4ST-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chst14",
                    "type": "recommended"
                },
                {
                    "name": "chst14",
                    "type": "synonym"
                },
                {
                    "name": "d4st1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc04a01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136487",
                    "type": "synonym"
                }
            ],
            "record_id": "Q805E5-1",
            "evidence": [
                {
                    "id": "0080736",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080736"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80V53-1",
            "uniprot_ac": "Q80V53",
            "uniprot_id": "CHSTE_MOUSE",
            "refseq_ac": "NP_082393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate sulfotransferase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.35",
                    "type": "synonym"
                },
                {
                    "name": "D4ST-1",
                    "type": "synonym"
                },
                {
                    "name": "Dermatan 4-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate sulfotransferase 14",
                    "type": "synonym"
                },
                {
                    "name": "dermatan 4-sulfotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chst14",
                    "type": "recommended"
                },
                {
                    "name": "2600016L03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chst14",
                    "type": "synonym"
                },
                {
                    "name": "D4ST-1",
                    "type": "synonym"
                },
                {
                    "name": "D4st1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80V53-1",
            "evidence": [
                {
                    "id": "0080736",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080736"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R8Y4-1",
            "uniprot_ac": "M0R8Y4",
            "uniprot_id": "M0R8Y4_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": "Carbohydrate sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chst14",
                    "type": "recommended"
                }
            ],
            "record_id": "M0R8Y4-1",
            "evidence": [
                {
                    "id": "0080736",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080736"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080736"
}