{
  "id": 18003,
  "label": "20p13 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017780",
  "properties": {
    "xrefs": [
      "GARD:0021360",
      "MEDGEN:1655817",
      "Orphanet:313781",
      "UMLS:C4750789"
    ],
    "synonyms": [
      "20p subtelomeric deletion syndrome",
      "Del(20)(p13)",
      "monosomy 20p13"
    ],
    "definition": "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported."
  },
  "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": 17319,
      "label": "partial monosomy of the short arm of chromosome 20",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17307
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826023",
          "MESH:C535370",
          "Orphanet:261992",
          "UMLS:C5679673",
          "icd11.foundation:274545745"
        ],
        "synonyms": [
          "Pure partial 20p deletion",
          "partial deletion of chromosome 20p",
          "partial deletion of the short arm of chromosome 20",
          "partial monosomy of chromosome 20p",
          "partial monosomy of the short arm of chromosome type 20",
          "20p deletion",
          "20p monosomy",
          "chromosome 20p deletion",
          "deletion 20p",
          "monosomy 20p",
          "partial monosomy 20p"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016898"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17319,
      "label": "partial monosomy of the short arm of chromosome 20"
    }
  ]
}