{
  "id": 12015,
  "label": "mesomelia-synostoses syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010881",
  "properties": {
    "xrefs": [
      "GARD:0004302",
      "MEDGEN:324959",
      "MESH:C537348",
      "OMIM:600383",
      "Orphanet:2496",
      "SCTID:724147004",
      "UMLS:C1838162"
    ],
    "synonyms": [
      "8q13 microdeletion syndrome",
      "Del(8)q(13)",
      "Verloes-David syndrome",
      "mesomelia-synostoses syndrome",
      "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type",
      "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type",
      "monosomy 8q13",
      "chromosome 8Q13 deletion syndrome",
      "dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis",
      "mesomelia synostoses",
      "mesomelic dysplasia, syndromic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 17326,
      "label": "partial deletion of the long arm of chromosome 8"
    }
  ]
}