{
  "id": 14512,
  "label": "chromosome 13q14 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013481",
  "properties": {
    "xrefs": [
      "DOID:0060391",
      "GARD:0016570",
      "MEDGEN:462652",
      "MESH:C535484",
      "NCIT:C36421",
      "OMIM:613884",
      "Orphanet:1587",
      "UMLS:C3151302"
    ],
    "synonyms": [
      "Del(13)(q14)",
      "chromosome 13q14 deletion syndrome",
      "chromosome 13q14 deletion syndrome, isolated cases",
      "del(13q14)",
      "deletion 13q14",
      "monosomy type 13q14",
      "chromosome 13Q deletion syndrome",
      "monosomy 13q14"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism."
  },
  "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"
    }
  ]
}