{
  "id": 23142,
  "label": "microphthalmia microtia fetal akinesia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0043143",
  "properties": {
    "xrefs": [
      "GARD:0003650",
      "MEDGEN:444005",
      "MESH:C536513",
      "Orphanet:2547",
      "UMLS:C2931224"
    ],
    "synonyms": [
      "Thomas Jewett Raines syndrome",
      "Thomas-Jewett-Raines syndrome",
      "fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus",
      "foetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus",
      "microphthalmia-microtia-fetal akinesia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080954",
          "GARD:0000777",
          "ICD10CM:Q74.3",
          "MEDGEN:1830310",
          "MedDRA:10051643",
          "NORD:810",
          "OMIMPS:617468",
          "Orphanet:1037",
          "UMLS:C5779613",
          "icd11.foundation:1930990330"
        ],
        "synonyms": [
          "AMC",
          "Arthromyodysplasia congenita",
          "arthrogryposis multiplex congenita",
          "congenital arthromyodysplasia",
          "multiple congenital arthrogryposis",
          "myodysplasia",
          "Guerin-Stern syndrome",
          "Guérin-Stern syndrome",
          "Otto syndrome",
          "Rossi syndrome",
          "amyoplasia congenita",
          "congenital amyoplasia",
          "fibrous ankylosis of multiple joints",
          "myodystrophia fetalis deformans",
          "rocher-Sheldon syndrome"
        ],
        "definition": "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015168"
    },
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021947",
          "MEDGEN:1843298",
          "Orphanet:471383",
          "UMLS:C5681265"
        ],
        "synonyms": [
          "genetic lethal multiple congenital anomalies/dysmorphic syndrome"
        ],
        "definition": "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0043009"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita"
    },
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"
    }
  ]
}