{
  "id": 23310,
  "label": "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044306",
  "properties": {
    "xrefs": [
      "GARD:0017930",
      "MEDGEN:1377894",
      "OMIM:617393",
      "Orphanet:500545",
      "UMLS:C4479333"
    ],
    "synonyms": [
      "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination",
      "NECFM",
      "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16437,
      "label": "monogenic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020086",
          "MEDGEN:1842675",
          "Orphanet:166472",
          "UMLS:C5680430"
        ],
        "synonyms": [
          "monogenic disease with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0015653"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}