{
  "id": 18800,
  "label": "metachromatic leukodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018868",
  "properties": {
    "xrefs": [
      "DOID:10581",
      "GARD:0003230",
      "ICD10CM:E75.25",
      "MEDGEN:6071",
      "MESH:D007966",
      "MedDRA:10067609",
      "NANDO:1200078",
      "NANDO:2200560",
      "NCIT:C61251",
      "NORD:1369",
      "Orphanet:512",
      "SCTID:238031009",
      "SCTID:396338004",
      "SCTID:66521008",
      "UMLS:C0023522",
      "icd11.foundation:172326564"
    ],
    "synonyms": [
      "MLD",
      "arylsulfatase A deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 19116,
      "label": "sphingolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19108
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1927",
          "GARD:0007672",
          "MEDGEN:52453",
          "MESH:D013106",
          "NCIT:C117254",
          "Orphanet:79225",
          "SCTID:238028008",
          "UMLS:C0037899",
          "icd11.foundation:1875237176"
        ],
        "definition": "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease."
      },
      "child_count": 11,
      "reference_id": "MONDO:0019255"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 10810,
      "label": "metachromatic leukodystrophy due to saposin B deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18800,
        24242
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010674",
          "MEDGEN:120624",
          "MESH:C562609",
          "NANDO:1200082",
          "NANDO:2201205",
          "OMIM:249900",
          "SCTID:1003375005",
          "SCTID:297278001",
          "SCTID:68390005",
          "UMLS:C0268262"
        ],
        "synonyms": [
          "metachromatic leukodystrophy due to sap-B deficiency",
          "metachromatic leukodystrophy due to saposin b deficiency",
          "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency",
          "saposin B deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009590"
    },
    {
      "id": 10811,
      "label": "metachromatic leukodystrophy, juvenile form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18800
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021329",
          "MEDGEN:155528",
          "NANDO:1200080",
          "NANDO:2201203",
          "OMIM:250100",
          "Orphanet:309263",
          "SCTID:44359008",
          "UMLS:C0751276"
        ],
        "synonyms": [
          "MLD, juvenile form",
          "arylsulfatase A deficiency, juvenile form",
          "metachromatic leukodystrophy, juvenile form",
          "ARSA deficiency",
          "MLD",
          "Mld",
          "arylsulfatase A deficiency",
          "cerebral sclerosis diffuse metachromatic form",
          "cerebral sclerosis, diffuse, metachromatic form",
          "cerebroside sulfatase deficiency",
          "leukodystrophy metachromatic",
          "metachromatic leukodystrophy",
          "metachromatic leukodystrophy, adult",
          "metachromatic leukodystrophy, juvenile",
          "metachromatic leukodystrophy, late infantile",
          "metachromatic leukoencephalopathy",
          "pseudoarylsulfatase A deficiency",
          "sulfatide lipidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009591"
    }
  ],
  "roots": [
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}