{
  "id": 13988,
  "label": "chromosome 6pter-p24 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012948",
  "properties": {
    "xrefs": [
      "DOID:0060422",
      "GARD:0016845",
      "MEDGEN:393396",
      "MESH:C567239",
      "OMIM:612582",
      "Orphanet:96125",
      "SCTID:718688008",
      "UMLS:C2675486"
    ],
    "synonyms": [
      "6p subtelomeric deletion syndrome",
      "6p25 microdeletion syndrome",
      "chromosome 6pter-p24 deletion syndrome",
      "chromosome 6pter-p24 deletion syndrome, isolated cases",
      "distal deletion 6p",
      "distal monosomy type 6p",
      "monosomy 6p25"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12243,
      "label": "iridogoniodysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050786",
          "GARD:0016484",
          "MEDGEN:861486",
          "Orphanet:98634",
          "UMLS:C4013049",
          "icd11.foundation:2030725523"
        ],
        "synonyms": [
          "IRID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0011119"
    },
    {
      "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": 17312,
      "label": "partial deletion of the short arm of chromosome 6",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020810",
          "MEDGEN:1825966",
          "Orphanet:261902",
          "UMLS:C5679667",
          "icd11.foundation:241036989"
        ],
        "synonyms": [
          "partial deletion of chromosome 6p",
          "partial deletion of the short arm of chromosome type 6",
          "partial monosomy of chromosome 6p",
          "partial monosomy of the short arm of chromosome 6"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016888"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12243,
      "label": "iridogoniodysgenesis"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17312,
      "label": "partial deletion of the short arm of chromosome 6"
    }
  ]
}