{
  "id": 15817,
  "label": "intellectual disability, autosomal recessive 53",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014832",
  "properties": {
    "xrefs": [
      "GARD:0017897",
      "MEDGEN:934761",
      "OMIM:616917",
      "Orphanet:488635",
      "UMLS:C4310794"
    ],
    "synonyms": [
      "GPIBD13",
      "MRT53",
      "PIGG-CDG",
      "congenital disorder of glycosylation due to PIGG deficiency",
      "early-onset epilepsy-intellectual disability-brain anomalies syndrome",
      "glycosylphosphatidylinositol biosynthesis defect 13",
      "intellectual developmental disorder, autosomal recessive 53",
      "intellectual disability, autosomal recessive 53",
      "intellectual disability, autosomal recessive type 53",
      "mental retardation, autosomal recessive 53",
      "mental retardation, autosomal recessive type 53"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        16168,
        21353
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021342",
          "MEDGEN:1842274",
          "Orphanet:309515",
          "UMLS:C5679954"
        ],
        "synonyms": [
          "disorder of glycosphingolipid and GPI-anchored proteins glycosylation",
          "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0017748"
    },
    {
      "id": 24320,
      "label": "autosomal recessive syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24319
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of syndromic intellectual disability."
      },
      "child_count": 14,
      "reference_id": "MONDO:0100598"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
    },
    {
      "id": 24320,
      "label": "autosomal recessive syndromic intellectual disability"
    }
  ]
}