{
  "id": 13562,
  "label": "hypomyelinating leukodystrophy 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012514",
  "properties": {
    "xrefs": [
      "DOID:0060793",
      "GARD:0011980",
      "ICD9:341.8",
      "MEDGEN:501134",
      "MESH:C567166",
      "NANDO:1200584",
      "NANDO:2201296",
      "OMIM:610532",
      "Orphanet:85163",
      "SCTID:702379005",
      "UMLS:C1864663"
    ],
    "synonyms": [
      "FAM126A leukodystrophy",
      "HLD5",
      "hypomyelinating leukodystrophy type 5",
      "hypomyelination-congenital cataract syndrome",
      "leukodystrophy caused by mutation in FAM126A",
      "leukodystrophy, hypomyelinating, type 5",
      "hypomyelination - congenital cataract",
      "hypomyelination and congenital cataract",
      "hypomyelination and congenital cataract: HCC",
      "leukodystrophy, hypomyelinating, 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}