{
  "id": 24502,
  "label": "chromosome 19q13.11 deletion syndrome, distal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700107",
  "properties": {
    "xrefs": [
      "GARD:0026360",
      "MEDGEN:935015",
      "OMIM:613026",
      "UMLS:C4311048"
    ],
    "definition": "Chromosome 19q13.11 deletion syndrome in which the distal region was deleted."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14128,
      "label": "chromosome 19q13.11 deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087,
        17335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060408",
          "GARD:0010592",
          "MEDGEN:414432",
          "MESH:C567810",
          "Orphanet:217346",
          "SCTID:719599008",
          "UMLS:C2751651"
        ],
        "synonyms": [
          "19q13.11 microdeletion syndrome",
          "Del(19)(q13.11)",
          "monosomy 19q13.11",
          "chromosome 19Q13.11 deletion syndrome, distal",
          "chromosome 19q13.11 deletion syndrome, distal"
        ],
        "definition": "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails."
      },
      "child_count": 4,
      "reference_id": "MONDO:0013090"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14128,
      "label": "chromosome 19q13.11 deletion syndrome"
    }
  ]
}