{
  "id": 15738,
  "label": "SLC39A8-CDG",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014746",
  "properties": {
    "xrefs": [
      "DOID:0070266",
      "GARD:0017846",
      "MEDGEN:899837",
      "OMIM:616721",
      "Orphanet:468699",
      "UMLS:C4225234"
    ],
    "synonyms": [
      "CDG syndrome type IIn",
      "CDG-IIn",
      "CDG2N",
      "SLC39A8 deficiency",
      "carbohydrate deficient glycoprotein syndrome type IIn",
      "congenital disorder of glycosylation type 2n",
      "congenital disorder of glycosylation type IIn",
      "congenital disorder of glycosylation, type IIn",
      "CDG IIn"
    ],
    "categories": [
      {
        "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": 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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7157,
      "label": "congenital disorder of glycosylation type II"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}