{
  "id": 11503,
  "label": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010334",
  "properties": {
    "xrefs": [
      "DOID:0112123",
      "GARD:0017592",
      "MEDGEN:812964",
      "MESH:C564508",
      "OMIM:300475",
      "Orphanet:369939",
      "UMLS:C3806634"
    ],
    "synonyms": [
      "deafness, dystonia, and cerebral hypomyelination, X-linked recessive",
      "DDCH",
      "contiguous ABCD1/Dxs1375E deletion syndrome",
      "deafness, dystonia, and cerebral hypomyelination"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3128,
      "label": "syndrome caused by partial chromosomal deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060388"
        ],
        "synonyms": [
          "microdeletion syndrome",
          "chromosomal deletion syndrome"
        ],
        "definition": "A chromosomal disorder consisting of the absence of a part of a chromosome."
      },
      "child_count": 27,
      "reference_id": "MONDO:0000761"
    },
    {
      "id": 23452,
      "label": "inherited dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5367,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021630",
          "MEDGEN:1842468",
          "NANDO:1200511",
          "NCIT:C35527",
          "OMIMPS:128100",
          "Orphanet:391799",
          "UMLS:C5680022"
        ],
        "synonyms": [
          "familial dystonia",
          "hereditary dystonic disorder",
          "rare genetic dystonia",
          "rare genetic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 48,
      "reference_id": "MONDO:0044807"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3128,
      "label": "syndrome caused by partial chromosomal deletion"
    },
    {
      "id": 23452,
      "label": "inherited dystonia"
    }
  ]
}