{
  "id": 18149,
  "label": "trichorhinophalangeal syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017951",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019194",
          "MEDGEN:1843369",
          "Orphanet:93436",
          "UMLS:C4736195",
          "icd11.foundation:177141175"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0019695"
    }
  ],
  "children": [
    {
      "id": 9210,
      "label": "trichorhinophalangeal syndrome type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16087,
        17326,
        18149
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007874"
    },
    {
      "id": 9882,
      "label": "trichorhinophalangeal syndrome type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18149
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008596"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia"
    }
  ]
}