{
  "id": 18514,
  "label": "13q12.3 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018474",
  "properties": {
    "xrefs": [
      "GARD:0021737",
      "MEDGEN:1657124",
      "Orphanet:412035",
      "UMLS:C4750951"
    ],
    "synonyms": [
      "Del(13)(q12.3)",
      "monosomy 13q12.3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain."
  },
  "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": 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"
    },
    {
      "id": 19129,
      "label": "epidermal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842776",
          "Orphanet:79353",
          "UMLS:C5681492"
        ],
        "synonyms": [
          "epidermal disease",
          "rare epidermal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disease that involves the epidermis."
      },
      "child_count": 25,
      "reference_id": "MONDO:0019268"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17330,
      "label": "partial deletion of the long arm of chromosome 13"
    },
    {
      "id": 19129,
      "label": "epidermal disease"
    }
  ]
}