{
  "id": 13681,
  "label": "COG1-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012637",
  "properties": {
    "xrefs": [
      "DOID:0070259",
      "GARD:0010226",
      "MEDGEN:443957",
      "MESH:C535756",
      "OMIM:611209",
      "Orphanet:263508",
      "SCTID:718750004",
      "UMLS:C2931011"
    ],
    "synonyms": [
      "CDG syndrome type IIg",
      "CDG-IIg",
      "CDG2G",
      "COG1-CDG",
      "COG1-congenital disorder of glycosylation",
      "carbohydrate deficient glycoprotein syndrome type IIg",
      "congenital disorder of glycosylation type 2g",
      "congenital disorder of glycosylation type IIg",
      "CDG 2G",
      "CDG IIg",
      "COG1-CDG (CDG-IIg)",
      "Cdgii/Cog1 Cerebrocostomandibular-like syndrome",
      "congenital disorder of glycosylation, type IIg"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism."
  },
  "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": 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": 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"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7157,
      "label": "congenital disorder of glycosylation type II"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17979,
      "label": "defect in conserved oligomeric Golgi complex"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}