{
    "disease_id": "DOID:0061264",
    "recommended_name": {
        "id": "DOID:0061264",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061264",
        "name": "lethal congenital contracture syndrome 8",
        "description": "A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "name": "lethal congenital contracture syndrome 8",
            "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene."
        },
        {
            "id": "MONDO:0014570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "name": "ADCY6 lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "name": "lethal congenital contracture syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0014570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "name": "lethal congenital contracture syndrome caused by mutation in ADCY6",
            "description": ""
        },
        {
            "id": "MONDO:0014570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "name": "lethal congenital contracture syndrome type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "name": "LCCS8",
            "description": ""
        },
        {
            "id": "MIM:616287",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616287",
            "name": "Lethal congenital contracture syndrome 8",
            "description": "Lethal congenital contracture syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061264"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061264",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061264",
            "categories": []
        },
        {
            "id": "MONDO:0014570",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014570",
            "categories": []
        },
        {
            "id": "MIM:616287",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616287",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O43306-1",
            "uniprot_ac": "O43306",
            "uniprot_id": "ADCY6_HUMAN",
            "refseq_ac": "NP_056085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase type 6",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP pyrophosphate-lyase 6",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase type VI",
                    "type": "synonym"
                },
                {
                    "name": "Adenylyl cyclase 6",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+)-inhibitable adenylyl cyclase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 6",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type VI",
                    "type": "synonym"
                },
                {
                    "name": "ca(2+)-inhibitable adenylyl cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADCY6",
                    "type": "recommended"
                },
                {
                    "name": "AC6",
                    "type": "synonym"
                },
                {
                    "name": "ADCY6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0422",
                    "type": "synonym"
                },
                {
                    "name": "LCCS8",
                    "type": "synonym"
                }
            ],
            "record_id": "O43306-1",
            "evidence": [
                {
                    "id": "616287",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616287"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061264"
}