{
  "id": 12947,
  "label": "lethal congenital contracture syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011868",
  "properties": {
    "xrefs": [
      "DOID:0060560",
      "GARD:0009177",
      "MEDGEN:334413",
      "MESH:C564369",
      "OMIM:607598",
      "Orphanet:137776",
      "SCTID:715419004",
      "UMLS:C1843478"
    ],
    "synonyms": [
      "ERBB3 lethal congenital contracture syndrome",
      "LCCS2",
      "lethal congenital contractural syndrome 2",
      "lethal congenital contracture syndrome 2",
      "lethal congenital contracture syndrome caused by mutation in ERBB3",
      "lethal congenital contracture syndrome type 2",
      "multiple contracture syndrome, Israeli-Bedouin type",
      "multiple contracture syndrome, Israeli Bedouin type",
      "multiple contracture syndrome, Israeli Bedouin type a"
    ],
    "definition": "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported."
  },
  "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"
    }
  ]
}