{
  "id": 14128,
  "label": "chromosome 19q13.11 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013090",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 17335,
      "label": "partial deletion of the long arm of chromosome 19",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826047",
          "Orphanet:262155",
          "UMLS:C5679729",
          "icd11.foundation:434506582"
        ],
        "synonyms": [
          "partial deletion of chromosome 19q",
          "partial deletion of the long arm of chromosome type 19",
          "partial monosomy of chromosome 19q",
          "partial monosomy of the long arm of chromosome 19"
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016917"
    }
  ],
  "children": [
    {
      "id": 15950,
      "label": "chromosome 19q13.11 deletion syndrome, proximal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025042",
          "MEDGEN:935013",
          "OMIM:617219",
          "UMLS:C4311046"
        ],
        "definition": "Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014972"
    },
    {
      "id": 24502,
      "label": "chromosome 19q13.11 deletion syndrome, distal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026360",
          "MEDGEN:935015",
          "OMIM:613026",
          "UMLS:C4311048"
        ],
        "definition": "Chromosome 19q13.11 deletion syndrome in which the distal region was deleted."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700107"
    }
  ],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17335,
      "label": "partial deletion of the long arm of chromosome 19"
    }
  ]
}