{
  "id": 4550,
  "label": "photosensitive trichothiodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002470",
  "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"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    },
    {
      "id": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    },
    {
      "id": 23212,
      "label": "radiation-induced disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009565",
          "GARD:0022139",
          "MEDGEN:734320",
          "MESH:D000016",
          "NCIT:C26684",
          "Orphanet:521132",
          "SCTID:85983004",
          "UMLS:C1527225"
        ],
        "synonyms": [
          "radiation-induced Abnormality",
          "radiation-induced abnormalities",
          "radiation-induced disorder",
          "Abnormality, radiation-induced",
          "abnormalities, radiation induced",
          "radiation induced abnormalities"
        ],
        "definition": "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas."
      },
      "child_count": 8,
      "reference_id": "MONDO:0043459"
    }
  ],
  "children": [
    {
      "id": 12249,
      "label": "trichothiodystrophy 1, photosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4550
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111873",
          "GARD:0005270",
          "MEDGEN:355730",
          "NCIT:C156433",
          "OMIM:601675",
          "Orphanet:670",
          "UMLS:C1866504"
        ],
        "synonyms": [
          "PIBIDS syndrome",
          "trichothiodystrophy 1, photosensitive",
          "TTD1",
          "Tay syndrome",
          "ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation",
          "trichothiodystrophy with congenital ichthyosis",
          "trichothiodystrophy, photosensitive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011125"
    },
    {
      "id": 15612,
      "label": "trichothiodystrophy 2, photosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4550
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111869",
          "GARD:0016100",
          "MEDGEN:905904",
          "NCIT:C173103",
          "OMIM:616390",
          "UMLS:C4225344"
        ],
        "synonyms": [
          "trichothiodystrophy 2, photosensitive",
          "TTD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014615"
    },
    {
      "id": 15615,
      "label": "trichothiodystrophy 3, photosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4550
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111871",
          "GARD:0016102",
          "MEDGEN:865608",
          "NCIT:C173099",
          "OMIM:616395",
          "UMLS:C4017171"
        ],
        "synonyms": [
          "trichothiodystrophy 3, photosensitive",
          "TTD3",
          "trichothiodystrophy, complementation group A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014619"
    }
  ],
  "roots": [
    {
      "id": 18217,
      "label": "trichothiodystrophy"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    },
    {
      "id": 23212,
      "label": "radiation-induced disorder"
    }
  ]
}