{
  "id": 14591,
  "label": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013563",
  "properties": {
    "xrefs": [
      "DOID:0080138",
      "GARD:0012781",
      "MEDGEN:481405",
      "NCIT:C176896",
      "OMIM:614080",
      "Orphanet:280633",
      "UMLS:C3279775"
    ],
    "synonyms": [
      "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "PIGN-CDG",
      "congenital disorder of glycosylation due to PIGN deficiency",
      "inherited GPI anchor-deficiency",
      "multiple congenital anomalies-hypotonia-seizures syndrome 1",
      "multiple congenital anomalies-hypotonia-seizures syndrome type 1",
      "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN",
      "PIGN-related inherited GPI deficiency",
      "MCAHS1",
      "glycosylphosphatidylinositol biosynthesis defect 3",
      "multiple congenital anomalies - hypotonia - seizures syndrome",
      "multiple congenital anomalies-hypotonia-seizures syndrome"
    ],
    "definition": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "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": 23985,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080503",
          "GARD:0026096",
          "MEDGEN:1683744",
          "OMIMPS:614080",
          "UMLS:C5191419"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0100247"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
    },
    {
      "id": 23985,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome"
    }
  ]
}