{
  "id": 10171,
  "label": "MGAT2-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008908",
  "properties": {
    "xrefs": [
      "DOID:0070253",
      "GARD:0009828",
      "MEDGEN:443956",
      "MESH:C535752",
      "OMIM:212066",
      "Orphanet:79329",
      "SCTID:724142005",
      "UMLS:C2931008"
    ],
    "synonyms": [
      "CDG syndrome type IIa",
      "CDG-IIa",
      "CDG2A",
      "MGAT2-CDG",
      "N-acetylglucosaminyltransferase 2 deficiency",
      "carbohydrate deficient glycoprotein syndrome type IIa",
      "congenital disorder of glycosylation type 2a",
      "congenital disorder of glycosylation type IIa",
      "Alkuraya syndrome",
      "CDG 2A",
      "CDG IIa",
      "CDGS2",
      "MGAT2-CDG (CDG-IIa)",
      "carbohydrate-deficient glycoprotein syndrome type 2",
      "carbohydrate-deficient glycoprotein syndrome, type II",
      "carbohydrate-deficient glycoprotein syndrome, type II, formerly",
      "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly",
      "congenital disorder of glycosylation, type IIa",
      "intellectual disability, Growth retardation, prominent columella, and open mouth",
      "mental retardation, Growth retardation, prominent columella, and open mouth"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 17973,
      "label": "disorder of protein N-glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        23506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021335",
          "MEDGEN:1826111",
          "Orphanet:309347",
          "UMLS:C5681044",
          "icd11.foundation:292641586"
        ],
        "synonyms": [
          "disorder of protein N-linked glycosylation",
          "protein N-linked glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of protein N-linked glycosylation."
      },
      "child_count": 52,
      "reference_id": "MONDO:0017740"
    },
    {
      "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": 7157,
      "label": "congenital disorder of glycosylation type II"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}