{
  "id": 13604,
  "label": "DK1-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012556",
  "properties": {
    "xrefs": [
      "DOID:0080565",
      "GARD:0012393",
      "MEDGEN:332072",
      "MESH:C563666",
      "OMIM:610768",
      "Orphanet:91131",
      "SCTID:718712005",
      "UMLS:C1835849"
    ],
    "synonyms": [
      "CDG syndrome type Im",
      "CDG-Im",
      "CDG1M",
      "DK1-CDG",
      "DK1-congenital disorder of glycosylation",
      "carbohydrate deficient glycoprotein syndrome type Im",
      "congenital disorder of glycosylation type 1m",
      "congenital disorder of glycosylation type Im",
      "dolichol kinase deficiency",
      "hypotonia and ichthyosis due to dolichol phosphate deficiency",
      "CDG Im",
      "CDGIm",
      "DOLK-CDG (CDG-Im)",
      "Dk1 deficiency",
      "congenital disorder of glycosylation, type Im"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity."
  },
  "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": 7156,
      "label": "congenital disorder of glycosylation type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050570",
          "EFO:0005545",
          "GARD:0024196",
          "MEDGEN:1684618",
          "OMIMPS:212065",
          "UMLS:C4700504"
        ],
        "synonyms": [
          "congenital disorders of glycosylation, type I",
          "ALG1-CDG",
          "ALG1-CDG (CDG-1k)",
          "ALG11-CDG",
          "ALG11-CDG (CDG-1p)",
          "ALG12-CDG",
          "ALG12-CDG (CDG-1g)",
          "ALG2-CDG",
          "ALG2-CDG (CDG-1i)",
          "ALG3-CDG",
          "ALG3-CDG (CDG-1d)",
          "ALG6-CDG",
          "ALG6-CDG (CDG-1c)",
          "ALG8-CDG",
          "ALG8-CDG (CDG-1h)",
          "ALG9-CDG",
          "ALG9-CDG (CDG-1l)",
          "DOLK-CDG",
          "DOLK-CDG (CDG-1m)",
          "DPAGT1-CDG",
          "DPAGT1-CDG (CDG-1j)",
          "DPM1-CDG",
          "DPM1-CDG (CDG-1e)",
          "DPM2-CDG",
          "DPM2-CDG (CDG-1u)",
          "DPM3-CDG",
          "DPM3-CDG (CDG-1o)",
          "MPDU1-CDG",
          "MPDU1-CDG (CDG-1f)",
          "MPI-CDG",
          "MPI-CDG (CDG-1b)",
          "PMM2-CDG",
          "PMM2-CDG (CDG-1a)",
          "RFT1-CDG",
          "RFT1-CDG (CDG-1n)",
          "SRD5A3-CDG",
          "SRD5A3-CDG (CDG-1q)"
        ],
        "definition": "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor."
      },
      "child_count": 28,
      "reference_id": "MONDO:0005500"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021343",
          "MEDGEN:1843364",
          "Orphanet:309526",
          "UMLS:C5681039",
          "icd11.foundation:684473574"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0017749"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}