{
  "id": 18561,
  "label": "adrenoleukodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018544",
  "properties": {
    "xrefs": [
      "DOID:10588",
      "GARD:0005758",
      "MEDGEN:57667",
      "MESH:D000326",
      "MedDRA:10051260",
      "NANDO:1200165",
      "NANDO:2200576",
      "NCIT:C61252",
      "NORD:736",
      "OMIM:300100",
      "Orphanet:43",
      "UMLS:C0162309",
      "icd11.foundation:1085655586"
    ],
    "synonyms": [
      "ABCD1 deficiency",
      "ALD",
      "Bronze-Schilder disease",
      "Siemerling-Creutzfeldt disease",
      "X-ALD",
      "X-Linked Adrenoleukodystrophy",
      "X-linked ALD",
      "X-linked adrenoleukodystrophy",
      "adrenoleukodystrophy",
      "adrenoleukodystrophy, X-linked",
      "adrenoleukodystrophy, X-linked recessive",
      "adrenomyeloneuropathy, adult",
      "adrenomyeloneuropathy, adult, X-linked recessive",
      "diffuse cerebral sclerosis of Schilder",
      "diffuse sclerosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 7151,
      "label": "adrenal gland disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9553",
          "EFO:0005539",
          "ICD9:255",
          "ICD9:255.8",
          "ICD9:255.9",
          "MEDGEN:892577",
          "MESH:D000307",
          "NCIT:C26690",
          "SCTID:30171000",
          "UMLS:C4021794"
        ],
        "synonyms": [
          "adrenal gland disease",
          "adrenal gland disease or disorder",
          "adrenal gland diseases",
          "adrenal gland disorder",
          "adrenal gland disorders",
          "disease of adrenal gland",
          "disease or disorder of adrenal gland",
          "disorder of adrenal gland"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the adrenal gland."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005495"
    },
    {
      "id": 16360,
      "label": "hereditary dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3823,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020028",
          "MEDGEN:1842422",
          "Orphanet:158124",
          "UMLS:C5680680"
        ],
        "synonyms": [
          "genetic dementia"
        ],
        "definition": "An instance of dementia that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 30,
      "reference_id": "MONDO:0015547"
    },
    {
      "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"
    },
    {
      "id": 24100,
      "label": "disorder of peroxisomal transporter",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026156"
        ],
        "synonyms": [
          "disorder of peroxisomal transporter defect"
        ],
        "definition": "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100372"
    }
  ],
  "children": [
    {
      "id": 11423,
      "label": "X-linked cerebral adrenoleukodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18561
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009412",
          "MEDGEN:1708324",
          "NANDO:1200166",
          "NANDO:2201246",
          "Orphanet:139396",
          "UMLS:C2026514",
          "icd11.foundation:1105019687"
        ],
        "synonyms": [
          "X-linked cerebral adrenoleukodystrophy",
          "ALD",
          "ALD childhood cerebral form",
          "Addison disease and cerebral sclerosis",
          "Siemerling-Creutzfeldt disease",
          "adrenoleukodystrophy",
          "adrenoleukodystrophy X-linked cerebral form",
          "adrenoleukodystrophy childhood cerebral form",
          "adrenomyeloneuropathy",
          "bronze Schilder disease",
          "childhood cerebral ALD",
          "childhood-onset cerebral X-linked adrenoleukodystrophy",
          "melanodermic leukodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010247"
    },
    {
      "id": 16202,
      "label": "adrenomyeloneuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18561,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010614",
          "ICD10CM:E71.522",
          "MEDGEN:315918",
          "NANDO:1200168",
          "NANDO:2201248",
          "Orphanet:139399",
          "SCTID:65389002",
          "UMLS:C1527231",
          "icd11.foundation:1214673956"
        ],
        "synonyms": [
          "AMN",
          "adrenomyeloneuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015339"
    },
    {
      "id": 24051,
      "label": "isolated adrenal insufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18561
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026139"
        ],
        "synonyms": [
          "isolated adrenal insufficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100315"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    },
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 24100,
      "label": "disorder of peroxisomal transporter"
    }
  ]
}