{
  "id": 11653,
  "label": "trichothiodystrophy 5, nonphotosensitive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010495",
  "properties": {
    "xrefs": [
      "DOID:0111868",
      "GARD:0015277",
      "MEDGEN:899675",
      "OMIM:300953",
      "UMLS:C4225420"
    ],
    "synonyms": [
      "RNF113A nonphotosensitive trichothiodystrophy",
      "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A",
      "trichothiodystrophy 5, nonphotosensitive",
      "TTD5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18217,
      "label": "trichothiodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111866",
          "GARD:0012109",
          "MEDGEN:363064",
          "MedDRA:10044628",
          "NANDO:1200627",
          "NCIT:C4924",
          "NORD:1292",
          "OMIMPS:601675",
          "Orphanet:33364",
          "SCTID:723551003",
          "UMLS:C1955934",
          "icd11.foundation:1366758649"
        ],
        "synonyms": [
          "trichothiodystrophy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins)."
      },
      "child_count": 7,
      "reference_id": "MONDO:0018053"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18217,
      "label": "trichothiodystrophy"
    }
  ]
}