{
  "id": 14360,
  "label": "COG5-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013325",
  "properties": {
    "xrefs": [
      "DOID:0070261",
      "GARD:0012348",
      "MEDGEN:462226",
      "OMIM:613612",
      "Orphanet:263487",
      "SCTID:721100009",
      "UMLS:C3150876"
    ],
    "synonyms": [
      "CDG syndrome type III",
      "CDG-III",
      "CDG2I",
      "COG5-CDG",
      "COG5-congenital disorder of glycosylation",
      "carbohydrate deficient glycoprotein syndrome type III",
      "congenital disorder of glycosylation type 2i",
      "congenital disorder of glycosylation type III",
      "CDG III",
      "CDG syndrome type 3",
      "COG5-CDG (CDG-III)",
      "congenital disorder of glycosylation, type III"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7157,
      "label": "congenital disorder of glycosylation type II",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050571",
          "EFO:0005546",
          "GARD:0024197",
          "MEDGEN:1812737",
          "MESH:C535747",
          "OMIMPS:212066",
          "UMLS:C5574948"
        ],
        "synonyms": [
          "congenital disorder of glycosylation type II",
          "congenital disorders of glycosylation, type II",
          "B4GALT1-CDG",
          "B4GALT1-CDG (CDG-2d)",
          "MGAT2-CDG",
          "MGAT2-CDG (CDG-2a)",
          "MOGS-CDG",
          "MOGS-CDG (CDG-2b)"
        ],
        "definition": "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain."
      },
      "child_count": 26,
      "reference_id": "MONDO:0005501"
    },
    {
      "id": 17979,
      "label": "defect in conserved oligomeric Golgi complex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17978
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021344",
          "MEDGEN:1843352",
          "Orphanet:309568",
          "UMLS:C5679953"
        ],
        "synonyms": [
          "defect in COG complex"
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0017750"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7157,
      "label": "congenital disorder of glycosylation type II"
    },
    {
      "id": 17979,
      "label": "defect in conserved oligomeric Golgi complex"
    }
  ]
}