{
  "id": 23820,
  "label": "SLC10A7-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100068",
  "properties": {
    "synonyms": [
      "SLC10A7 deficiency",
      "SLC10A7-CDG",
      "SLC10A7-congenital disorder of glycosylation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7061,
      "label": "bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080001",
          "EFO:0004260",
          "ICD10CM:M80-M85",
          "ICD9:731.8",
          "ICD9:733.99",
          "MEDGEN:14182",
          "MESH:D001847",
          "NANDO:2100291",
          "NANDO:2100293",
          "SCTID:76069003",
          "UMLS:C0005940"
        ],
        "synonyms": [
          "bone element disease",
          "bone element disease or disorder",
          "disease of bone element",
          "disease or disorder of bone element",
          "disorder of bone element",
          "rare bone disease related to a common gene or pathway defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diseases of bones."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005381"
    },
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5212",
          "GARD:0010307",
          "ICD9:271.8",
          "MEDGEN:76469",
          "MESH:D018981",
          "NCIT:C84615",
          "Orphanet:137",
          "SCTID:238049009",
          "UMLS:C0282577"
        ],
        "synonyms": [
          "CDG",
          "carbohydrate deficient glycoprotein syndrome",
          "carbohydrate-deficient glycoprotein syndrome",
          "congenital disorder of glycosylation",
          "carbohydrate-deficient glycoprotein syndromes",
          "congenital disorders of glycosylation"
        ],
        "definition": "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation."
      },
      "child_count": 25,
      "reference_id": "MONDO:0015286"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7061,
      "label": "bone disorder"
    },
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation"
    }
  ]
}