{
  "id": 10841,
  "label": "microcephaly-cervical spine fusion anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009621",
  "properties": {
    "xrefs": [
      "GARD:0003610",
      "MEDGEN:208663",
      "MESH:C537325",
      "OMIM:251250",
      "Orphanet:2522",
      "SCTID:715462003",
      "UMLS:C0796066"
    ],
    "synonyms": [
      "microcephaly cervical spine fusion anomalies",
      "microcephaly with cervical spine fusion anomalies",
      "microcephaly, mild intellectual disability, short stature, and skeletal anomalies",
      "microcephaly, mild mental retardation, short stature, and skeletal anomalies"
    ],
    "definition": "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}