{
  "id": 17565,
  "label": "Pelizaeus-Merzbacher-like disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017226",
  "properties": {
    "xrefs": [
      "GARD:0012300",
      "MEDGEN:894734",
      "NANDO:1200577",
      "NANDO:2201289",
      "Orphanet:280270",
      "SCTID:717042001",
      "UMLS:C4274084",
      "icd11.foundation:1101042369"
    ],
    "synonyms": [
      "PMLD"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": [
    {
      "id": 11046,
      "label": "hypomyelinating leukodystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060790",
          "GARD:0004266",
          "MEDGEN:342403",
          "MESH:C536319",
          "OMIM:260600",
          "Orphanet:280293",
          "UMLS:C1850053"
        ],
        "synonyms": [
          "AIMP1 leukodystrophy",
          "HLD3",
          "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation",
          "hypomyelinating leukodystrophy 3",
          "hypomyelinating leukodystrophy type 3",
          "leukodystrophy caused by mutation in AIMP1",
          "leukodystrophy, hypomyelinating, type 3",
          "leukodystrophy, hypomyelinating 3",
          "leukodystrophy, hypomyelinating, 3",
          "perinatal Sudanophilic leukodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009843"
    },
    {
      "id": 13191,
      "label": "hypomyelinating leukodystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060787",
          "GARD:0017293",
          "MEDGEN:325157",
          "MESH:C563855",
          "OMIM:608804",
          "Orphanet:280282",
          "UMLS:C1837355"
        ],
        "synonyms": [
          "GJC2 leukodystrophy",
          "HLD2",
          "PMLD1",
          "Pelizaeus-Merzbacher-like disease due to GJC2 mutation",
          "hypomyelinating leukodystrophy type 2",
          "leukodystrophy caused by mutation in GJC2",
          "leukodystrophy, hypomyelinating, type 2",
          "Pelizaeus-Merzbacher-like disease, 1",
          "leukodystrophy, hypomyelinating, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012125"
    },
    {
      "id": 13864,
      "label": "hypomyelinating leukodystrophy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060789",
          "GARD:0017294",
          "MEDGEN:383026",
          "MESH:C567390",
          "NANDO:1200581",
          "NANDO:2201293",
          "OMIM:612233",
          "Orphanet:280288",
          "UMLS:C2677109"
        ],
        "synonyms": [
          "HLD4",
          "HSPD1 leukodystrophy",
          "MitCHAP60 disease",
          "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation",
          "hypomyelinating leukodystrophy type 4",
          "leukodystrophy caused by mutation in HSPD1",
          "leukodystrophy, hypomyelinating, type 4",
          "mitochondrial HSP60 chaperonopathy",
          "Mitchap60 disease",
          "leukodystrophy, hypomyelinating, 4",
          "mitochondrial Hsp60 chaperonopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012824"
    }
  ],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}