{
  "id": 9210,
  "label": "trichorhinophalangeal syndrome type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007874",
  "properties": {
    "xrefs": [
      "DOID:4998",
      "GARD:0007801",
      "ICD9:759.89",
      "MEDGEN:6009",
      "MESH:D015826",
      "MedDRA:10050638",
      "NCIT:C75118",
      "NORD:1788",
      "OMIM:150230",
      "Orphanet:502",
      "SCTID:41069008",
      "UMLS:C0023003",
      "icd11.foundation:315453775"
    ],
    "synonyms": [
      "Langer-Giedion syndrome",
      "deletion 8q24.1",
      "monosomy 8q24.1",
      "trichorhinophalangeal syndrome type 2",
      "Giedion-Langer syndrome",
      "Langer Giedion syndrome",
      "TRPS 2",
      "TRPS2",
      "chromosome 8Q24.1 deletion syndrome",
      "trichorhinophalangeal syndrome, type 2",
      "trichorhinophalangeal syndrome, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability."
  },
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17326,
      "label": "partial deletion of the long arm of chromosome 8",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:208638",
          "MESH:C537828",
          "Orphanet:262065",
          "UMLS:C0795828",
          "icd11.foundation:653068448"
        ],
        "synonyms": [
          "partial deletion of chromosome 8q",
          "partial deletion of the long arm of chromosome type 8",
          "partial monosomy of chromosome 8q",
          "partial monosomy of the long arm of chromosome 8",
          "8q deletion",
          "8q monosomy",
          "chromosome 8q deletion",
          "deletion 8q",
          "monosomy 8q",
          "partial monosomy 8q"
        ],
        "definition": "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016907"
    },
    {
      "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17326,
      "label": "partial deletion of the long arm of chromosome 8"
    },
    {
      "id": 18149,
      "label": "trichorhinophalangeal syndrome"
    }
  ]
}