{
  "id": 20267,
  "label": "trichothiodystrophy 4, nonphotosensitive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021013",
  "properties": {
    "xrefs": [
      "DOID:0050528",
      "GARD:0005271",
      "ICD9:704.8",
      "ICD9:783.43",
      "MEDGEN:272036",
      "NCIT:C146899",
      "OMIM:234050",
      "Orphanet:75790",
      "SCTID:403796005",
      "UMLS:C1313961"
    ],
    "synonyms": [
      "MPLKIP nonphotosensitive trichothiodystrophy",
      "Pollitt syndrome",
      "TTD4",
      "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP",
      "trichothiodystrophy 4, nonphotosensitive",
      "Amish brittle hair brain syndrome",
      "BIDS syndrome",
      "hair-brain syndrome",
      "nonphotosensitive trichothiodystrophy",
      "trichothiodystrophy, nonphotosensitive 1",
      "trichothiodystrophy-neurocutaneous syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein."
  },
  "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"
    }
  ]
}