{
  "id": 14424,
  "label": "sterol carrier protein 2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013391",
  "properties": {
    "xrefs": [
      "GARD:0012471",
      "MEDGEN:462340",
      "NANDO:1200767",
      "OMIM:613724",
      "Orphanet:163684",
      "UMLS:C3150990"
    ],
    "synonyms": [
      "SCP2 deficiency",
      "leukoencephalopathy-dystonia-motor neuropathy syndrome",
      "sterol carrier protein 2 deficiency",
      "LKDMN",
      "leukoencephalopathy - dystonia - motor neuropathy",
      "leukoencephalopathy with dystonia and motor neuropathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "id": 19097,
      "label": "disorder of peroxisomal beta oxidation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012470",
          "MEDGEN:1843097",
          "NANDO:1200764",
          "Orphanet:79188",
          "UMLS:C5681280"
        ],
        "synonyms": [
          "disorder of peroxisomal beta oxidation"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0019233"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 19097,
      "label": "disorder of peroxisomal beta oxidation"
    }
  ]
}