{
  "id": 9523,
  "label": "adult-onset autosomal dominant demyelinating leukodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008215",
  "properties": {
    "xrefs": [
      "DECIPHER:59",
      "DOID:0051015",
      "DOID:0060785",
      "GARD:0010587",
      "MEDGEN:356995",
      "MESH:C566813",
      "OMIMPS:169500",
      "Orphanet:99027",
      "SCTID:448054001",
      "UMLS:C1868512"
    ],
    "synonyms": [
      "ADLD",
      "adult-onset autosomal dominant demyelinating leukodystrophy",
      "adult-onset autosomal dominant leukodystrophy",
      "leukodystrophy, adult-onset, autosomal dominant",
      "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type",
      "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly",
      "autosomal dominant adult-onset demyelinating leukodystrophy",
      "autosomal dominant leukodystrophy with autonomic disease",
      "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant",
      "multiple sclerosis-like disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17371,
      "label": "partial trisomy of the long arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17342
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:315659",
          "MESH:C537650",
          "Orphanet:262869",
          "UMLS:C1802398",
          "icd11.foundation:722703441"
        ],
        "synonyms": [
          "partial duplication of chromosome 5q",
          "partial duplication of the long arm of chromosome 5",
          "partial trisomy of chromosome 5q",
          "partial trisomy of the long arm of chromosome type 5",
          "5q duplication",
          "5q trisomy",
          "Duplication 5q",
          "chromosome 5q duplication",
          "partial trisomy 5q",
          "trisomy 5q"
        ],
        "definition": "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 3,
      "reference_id": "MONDO:0016956"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    },
    {
      "id": 26194,
      "label": "leukodystrophy, demyelinating, adult-onset",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027431"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0976138"
    }
  ],
  "children": [
    {
      "id": 24681,
      "label": "leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9523
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051014",
          "GARD:0027379",
          "MEDGEN:1875111",
          "OMIM:621061",
          "UMLS:C5975581"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700286"
    },
    {
      "id": 24688,
      "label": "leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9523
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027383",
          "OMIM:169500"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700295"
    }
  ],
  "roots": [
    {
      "id": 17371,
      "label": "partial trisomy of the long arm of chromosome 5"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    },
    {
      "id": 26194,
      "label": "leukodystrophy, demyelinating, adult-onset"
    }
  ]
}