{
    "disease_id": "DOID:0061261",
    "recommended_name": {
        "id": "DOID:0061261",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061261",
        "name": "lethal congenital contracture syndrome 5",
        "description": "A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014149",
            "name": "fetal akinesia-cerebral and retinal hemorrhage syndrome",
            "description": "A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate."
        },
        {
            "id": "MONDO:0014149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014149",
            "name": "lethal congenital contracture syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014149",
            "name": "LCCS5",
            "description": ""
        },
        {
            "id": "MONDO:0014149",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014149",
            "name": "lethal congenital contracture syndrome 5",
            "description": ""
        },
        {
            "id": "MIM:615368",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615368",
            "name": "Lethal congenital contracture syndrome 5",
            "description": "Lethal congenital contracture syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061261"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061261",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061261",
            "categories": []
        },
        {
            "id": "MONDO:0014149",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014149",
            "categories": []
        },
        {
            "id": "MIM:615368",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615368",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P50570-1",
            "uniprot_ac": "P50570",
            "uniprot_id": "DYN2_HUMAN",
            "refseq_ac": "NP_001005360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin 2",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin II",
                    "type": "synonym"
                },
                {
                    "name": "dynamin II",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNM2",
                    "type": "recommended"
                },
                {
                    "name": "CMT2M",
                    "type": "synonym"
                },
                {
                    "name": "CMTDI1",
                    "type": "synonym"
                },
                {
                    "name": "CMTDIB",
                    "type": "synonym"
                },
                {
                    "name": "DI-CMTB",
                    "type": "synonym"
                },
                {
                    "name": "DNM2",
                    "type": "synonym"
                },
                {
                    "name": "DYN2",
                    "type": "synonym"
                },
                {
                    "name": "DYNII",
                    "type": "synonym"
                },
                {
                    "name": "LCCS5",
                    "type": "synonym"
                }
            ],
            "record_id": "P50570-1",
            "evidence": [
                {
                    "id": "615368",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615368"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061261"
}