{
  "id": 10810,
  "label": "metachromatic leukodystrophy due to saposin B deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009590",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18800,
      "label": "metachromatic leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16360,
        18952,
        19116,
        19748
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018868"
    },
    {
      "id": 24242,
      "label": "PSAP-related sphingolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026261"
        ],
        "definition": "A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100517"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18800,
      "label": "metachromatic leukodystrophy"
    },
    {
      "id": 24242,
      "label": "PSAP-related sphingolipidosis"
    }
  ]
}