{
  "id": 13760,
  "label": "Krabbe disease due to saposin A deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012720",
  "properties": {
    "xrefs": [
      "GARD:0010289",
      "MEDGEN:392873",
      "MESH:C567097",
      "OMIM:611722",
      "UMLS:C2673266"
    ],
    "synonyms": [
      "Krabbe disease, atypical",
      "Krabbe disease, atypical due to saposin A deficiency",
      "Krabbe disease, atypical, due to saposin A deficiency",
      "saposin A deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "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": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 24242,
      "label": "PSAP-related sphingolipidosis"
    }
  ]
}