{
  "id": 12604,
  "label": "NDE1-related microhydranencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011504",
  "properties": {
    "xrefs": [
      "GARD:0010216",
      "MEDGEN:341899",
      "MESH:C537555",
      "OMIM:605013",
      "Orphanet:443162",
      "UMLS:C1857977"
    ],
    "synonyms": [
      "MHAC",
      "hydranencephaly and microcephaly",
      "microhydranencephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16438,
      "label": "sporadic fetal brain disruption sequence",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018734",
          "MEDGEN:1636968",
          "Orphanet:1665",
          "SCTID:763717004",
          "UMLS:C4706553"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly."
      },
      "child_count": 1,
      "reference_id": "MONDO:0015660"
    },
    {
      "id": 24511,
      "label": "microcephaly with lissencephaly and/or hydranencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026362"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700116"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16438,
      "label": "sporadic fetal brain disruption sequence"
    },
    {
      "id": 24511,
      "label": "microcephaly with lissencephaly and/or hydranencephaly"
    }
  ]
}