{
  "id": 9882,
  "label": "trichorhinophalangeal syndrome type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008596",
  "properties": {
    "xrefs": [
      "DOID:14743",
      "GARD:0007800",
      "ICD9:759.89",
      "MEDGEN:140929",
      "MESH:C536820",
      "NCIT:C75109",
      "NORD:1787",
      "OMIM:190350",
      "Orphanet:77258",
      "SCTID:254091006",
      "UMLS:C0432233"
    ],
    "synonyms": [
      "Sugio-Kajii syndrome",
      "TRPS 1",
      "TRPS1",
      "trichorhinophalangeal dysplasia (syndrome) types 1/3",
      "trichorhinophalangeal dysplasia type I",
      "trichorhinophalangeal dysplasia types 1/3",
      "trichorhinophalangeal syndrome type 1",
      "trichorhinophalangeal syndrome type I",
      "trichorhinophalangeal syndrome, type 1",
      "trichorhinophalangeal syndrome, type I",
      "type III trichorhinophalangeal syndrome",
      "Giedion syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18149,
      "label": "trichorhinophalangeal syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021451",
          "ICD9:759.89",
          "MEDGEN:539179",
          "OMIMPS:190350",
          "Orphanet:324764",
          "SCTID:18077009",
          "UMLS:C0265255"
        ],
        "synonyms": [
          "TRPS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017951"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18149,
      "label": "trichorhinophalangeal syndrome"
    }
  ]
}