{
  "id": 19622,
  "label": "monosomy 13q34",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019902",
  "properties": {
    "xrefs": [
      "GARD:0016847",
      "MEDGEN:1631901",
      "Orphanet:96168",
      "SCTID:766716004",
      "UMLS:C4707797"
    ],
    "synonyms": [
      "Del(13)(q34)",
      "distal deletion 13q34",
      "monosomy type 13q34",
      "subtelomeric deletion 13q34"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17330,
      "label": "partial deletion of the long arm of chromosome 13",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:120541",
          "MESH:C535449",
          "NCIT:C36497",
          "Orphanet:262101",
          "UMLS:C0265451"
        ],
        "synonyms": [
          "partial deletion of chromosome 13q",
          "partial deletion of the long arm of chromosome type 13",
          "partial monosomy of chromosome 13q",
          "partial monosomy of the long arm of chromosome 13",
          "13q deletion",
          "13q monosomy",
          "chromosome 13q deletion",
          "del(13q)",
          "deletion 13q",
          "loss of chromosome 13q",
          "monosomy 13q"
        ],
        "definition": "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016911"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17330,
      "label": "partial deletion of the long arm of chromosome 13"
    }
  ]
}