{
  "id": 13697,
  "label": "lethal congenital contracture syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012656",
  "properties": {
    "xrefs": [
      "DOID:0060653",
      "GARD:0012644",
      "MEDGEN:369555",
      "MESH:C566961",
      "OMIM:611369",
      "Orphanet:137783",
      "SCTID:715420005",
      "UMLS:C1969655"
    ],
    "synonyms": [
      "LCCS3",
      "PIP5K1C lethal congenital contracture syndrome",
      "lethal congenital contractural syndrome 3",
      "lethal congenital contracture syndrome 3",
      "lethal congenital contracture syndrome caused by mutation in PIP5K1C",
      "lethal congenital contracture syndrome type 3",
      "multiple contracture syndrome, Israeli Bedouin type B"
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 17730,
      "label": "lethal congenital contracture syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060558",
          "GARD:0012643",
          "MEDGEN:1863860",
          "OMIMPS:253310",
          "Orphanet:294965",
          "UMLS:C5848326",
          "icd11.foundation:1866017256"
        ],
        "synonyms": [
          "LCCS"
        ],
        "definition": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."
      },
      "child_count": 22,
      "reference_id": "MONDO:0017436"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 17730,
      "label": "lethal congenital contracture syndrome"
    }
  ]
}