{
  "id": 11856,
  "label": "Pelizaeus-Merzbacher spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010714",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 17560,
      "label": "Pelizaeus-Merzbacher disease, connatal form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017291",
          "MEDGEN:1842817",
          "Orphanet:280210",
          "UMLS:C5679776",
          "icd11.foundation:1118374715"
        ],
        "synonyms": [
          "Pelizaeus-Merzbacher disease type II",
          "connatal PMD",
          "severe PMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017221"
    },
    {
      "id": 17561,
      "label": "Pelizaeus-Merzbacher disease, classic form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021073",
          "MEDGEN:155959",
          "Orphanet:280219",
          "SCTID:87607002",
          "UMLS:C0751916",
          "icd11.foundation:1613420896"
        ],
        "synonyms": [
          "classic PMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017222"
    },
    {
      "id": 17562,
      "label": "Pelizaeus-Merzbacher disease, transitional form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11856
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017223"
    },
    {
      "id": 17563,
      "label": "Pelizaeus-Merzbacher disease in female carriers",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021075",
          "MEDGEN:1753109",
          "Orphanet:280229",
          "UMLS:C5438815",
          "icd11.foundation:1751389523"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017224"
    },
    {
      "id": 17564,
      "label": "null syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017292",
          "MEDGEN:1740046",
          "Orphanet:280234",
          "UMLS:C5439441",
          "icd11.foundation:1663254692"
        ],
        "synonyms": [
          "PLP1 null syndrome",
          "Pelizaeus-Merzbacher disease, null syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017225"
    }
  ],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}