{
    "disease_id": "DOID:0061266",
    "recommended_name": {
        "id": "DOID:0061266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061266",
        "name": "lethal congenital contracture syndrome 10",
        "description": "A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "NEK9-related lethal skeletal dysplasia",
            "description": "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated."
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "LCCS10",
            "description": ""
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "lethal congenital contracture syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "lethal congenital contracture syndrome type 10",
            "description": ""
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MIM:617022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617022",
            "name": "Lethal congenital contracture syndrome 10",
            "description": "Lethal congenital contracture syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061266"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061266",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061266",
            "categories": []
        },
        {
            "id": "MONDO:0014870",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "categories": []
        },
        {
            "id": "MIM:617022",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617022",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8TD19-1",
            "uniprot_ac": "Q8TD19",
            "uniprot_id": "NEK9_HUMAN",
            "refseq_ac": "NP_001316166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek9",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.38",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "Nek8",
                    "type": "synonym"
                },
                {
                    "name": "Nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "nercc1 kinase",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK9",
                    "type": "recommended"
                },
                {
                    "name": "APUG",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1995",
                    "type": "synonym"
                },
                {
                    "name": "LCCS10",
                    "type": "synonym"
                },
                {
                    "name": "NC",
                    "type": "synonym"
                },
                {
                    "name": "NEK8",
                    "type": "synonym"
                },
                {
                    "name": "NEK9",
                    "type": "synonym"
                },
                {
                    "name": "NERCC1",
                    "type": "synonym"
                },
                {
                    "name": "NERCC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TD19-1",
            "evidence": [
                {
                    "id": "617022",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061266"
}