{
  "id": 14882,
  "label": "TMEM165-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013870",
  "properties": {
    "xrefs": [
      "DOID:0070263",
      "GARD:0012413",
      "MEDGEN:766485",
      "OMIM:614727",
      "Orphanet:314667",
      "SCTID:732252005",
      "UMLS:C3553571"
    ],
    "synonyms": [
      "CDG syndrome type IIk",
      "CDG-IIk",
      "CDG2K",
      "TMEM165-CDG",
      "TMEM165-congenital disorder of glycosylation",
      "carbohydrate deficient glycoprotein syndrome type IIk",
      "congenital disorder of glycosylation type 2k",
      "congenital disorder of glycosylation type IIk",
      "CDG IIk",
      "TMEM165-CDG (CDG-IIk)",
      "congenital disorder of glycosylation, type IIk"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)."
  },
  "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": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7157,
      "label": "congenital disorder of glycosylation type II"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation"
    }
  ]
}