{
  "id": 15156,
  "label": "fetal akinesia-cerebral and retinal hemorrhage syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014149",
  "properties": {
    "xrefs": [
      "GARD:0017553",
      "MEDGEN:1631944",
      "OMIM:615368",
      "Orphanet:363409",
      "SCTID:763346009",
      "UMLS:C4706410"
    ],
    "synonyms": [
      "lethal congenital contracture syndrome type 5",
      "LCCS5",
      "lethal congenital contracture syndrome 5",
      "myopathy, centronuclear, lethal, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17730,
      "label": "lethal congenital contracture syndrome"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}