{
  "id": 17562,
  "label": "Pelizaeus-Merzbacher disease, transitional form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017223",
  "properties": {
    "xrefs": [
      "GARD:0021074",
      "MEDGEN:199764",
      "Orphanet:280224",
      "UMLS:C0751917",
      "icd11.foundation:1471805474"
    ],
    "synonyms": [
      "transitional PMD"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11856,
      "label": "Pelizaeus-Merzbacher spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:38",
          "DOID:3210",
          "GARD:0004265",
          "MEDGEN:61440",
          "MESH:D020371",
          "MedDRA:10067610",
          "NANDO:1200576",
          "NANDO:2201288",
          "NCIT:C75487",
          "OMIM:312080",
          "Orphanet:702",
          "SCTID:64855000",
          "UMLS:C0205711",
          "icd11.foundation:1313582105"
        ],
        "synonyms": [
          "HLD1",
          "PMD",
          "Pelizaeus-Merzbacher brain sclerosis",
          "Pelizaeus-Merzbacher disease",
          "Pelizaeus-Merzbacher disease, X-linked recessive",
          "Pelizaeus-Merzbacher spectrum disorder",
          "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type",
          "diffuse familial brain sclerosis",
          "sudanophilic leukodystrophy, Paelizeus-Merzbacher type",
          "Pelizaeus Merzbacher disease",
          "leukodystrophy, hypomyelinating, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD."
      },
      "child_count": 5,
      "reference_id": "MONDO:0010714"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11856,
      "label": "Pelizaeus-Merzbacher spectrum disorder"
    }
  ]
}