{
  "id": 12368,
  "label": "distal monosomy 13q",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011248",
  "properties": {
    "xrefs": [
      "GARD:0016571",
      "MEDGEN:355405",
      "MESH:C566526",
      "OMIM:602553",
      "Orphanet:1590",
      "SCTID:763527007",
      "UMLS:C1865208"
    ],
    "synonyms": [
      "13q32 deletion",
      "deletion 13q32",
      "distal 13q deletion",
      "distal monosomy type 13q",
      "monosomy 13q32",
      "telomeric deletion13q",
      "anal atresia, hypospadias, and penoscrotal inversion"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported."
  },
  "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"
    }
  ]
}