{
  "id": 18217,
  "label": "trichothiodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018053",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [
    {
      "id": 4550,
      "label": "photosensitive trichothiodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18217,
        20416,
        23212
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2960",
          "GARD:0023143",
          "MEDGEN:336339",
          "NANDO:1200626",
          "Orphanet:453",
          "UMLS:C1848412"
        ],
        "synonyms": [
          "trichothiodystrophy",
          "trichothiodystrophy with congenital ichthyosis",
          "Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature",
          "trichothiodystrophy with congenital ichtyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway"
      },
      "child_count": 9,
      "reference_id": "MONDO:0002470"
    },
    {
      "id": 11653,
      "label": "trichothiodystrophy 5, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010495"
    },
    {
      "id": 15825,
      "label": "trichothiodystrophy 6, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111872",
          "GARD:0016172",
          "MEDGEN:934752",
          "OMIM:616943",
          "UMLS:C4310785"
        ],
        "synonyms": [
          "GTF2E2 nonphotosensitive trichothiodystrophy",
          "TTD6",
          "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2",
          "trichothiodystrophy 6, nonphotosensitive",
          "trichothiodystrophy 6, nonphotosensitive; TTD6"
        ],
        "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 GTF2E2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014841"
    },
    {
      "id": 20267,
      "label": "trichothiodystrophy 4, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021013"
    },
    {
      "id": 21961,
      "label": "trichothiodystrophy 8, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217,
        26554
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061023",
          "GARD:0025589",
          "MEDGEN:1794267",
          "OMIM:619691",
          "UMLS:C5562057"
        ],
        "synonyms": [
          "TTD8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030517"
    },
    {
      "id": 21962,
      "label": "trichothiodystrophy 9, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061024",
          "GARD:0025590",
          "MEDGEN:1794268",
          "OMIM:619692",
          "UMLS:C5562058"
        ],
        "synonyms": [
          "TTD9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030518"
    },
    {
      "id": 22463,
      "label": "trichothiodystrophy 7, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111870",
          "GARD:0016362",
          "MEDGEN:1684762",
          "NCIT:C173102",
          "OMIM:618546",
          "UMLS:C5231403"
        ],
        "synonyms": [
          "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE",
          "TTD7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032806"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}