{
  "id": 14371,
  "label": "chromosome 19p13.13 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013336",
  "properties": {
    "xrefs": [
      "DOID:0060426",
      "GARD:0017542",
      "MEDGEN:462244",
      "OMIM:613638",
      "Orphanet:357001",
      "SCTID:764440006",
      "UMLS:C3150894"
    ],
    "synonyms": [
      "Del(19)(p13.13)",
      "chromosome 19p13.13 deletion syndrome",
      "monosomy 19p13.13",
      "19p13.13 microdeletion syndrome",
      "chromosome 19P13.13 Duplication syndrome"
    ],
    "definition": "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17318,
      "label": "partial deletion of the short arm of chromosome 19",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826022",
          "Orphanet:261983",
          "UMLS:C5679672",
          "icd11.foundation:1325170119"
        ],
        "synonyms": [
          "partial deletion of chromosome 19p",
          "partial deletion of the short arm of chromosome type 19",
          "partial monosomy of chromosome 19p",
          "partial monosomy of the short arm of chromosome 19"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016897"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17318,
      "label": "partial deletion of the short arm of chromosome 19"
    }
  ]
}