{
    "disease_id": "DOID:0060653",
    "recommended_name": {
        "id": "DOID:0060653",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060653",
        "name": "lethal congenital contracture syndrome 3",
        "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060653",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060653",
            "name": "Israeli Bedouin type B multiple contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome 3",
            "description": "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement."
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "LCCS3",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "PIP5K1C lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contractural syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome caused by mutation in PIP5K1C",
            "description": ""
        },
        {
            "id": "MONDO:0012656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012656",
            "name": "lethal congenital contracture syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:611369",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611369",
            "name": "Lethal congenital contracture syndrome 3",
            "description": "Lethal congenital contracture syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060653"
    ],
    "unlinked_id_list": []
}