{
  "id": 9522,
  "label": "Pelger-Huet anomaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008214",
  "properties": {
    "xrefs": [
      "DOID:9631",
      "EFO:1001093",
      "GARD:0009148",
      "MEDGEN:10617",
      "MESH:D010381",
      "MedDRA:10029377",
      "NCIT:C85002",
      "OMIM:169400",
      "SCTID:85559002",
      "UMLS:C0030779",
      "icd11.foundation:1210390183"
    ],
    "synonyms": [
      "Pelger-Huet anomaly",
      "PHA",
      "Pelger Huet anomaly",
      "Pelger-Huet nuclear anomaly",
      "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 6569,
      "label": "leukocyte disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9500",
          "ICD9:288",
          "ICD9:288.9",
          "MEDGEN:7325",
          "MESH:D007960",
          "SCTID:54097007",
          "UMLS:C0023510"
        ],
        "synonyms": [
          "disease of leukocyte",
          "disease or disorder of leukocyte",
          "disorder of leukocyte",
          "disorder, leukocyte",
          "disorders, leukocyte",
          "leukocyte disease",
          "leukocyte disease or disorder",
          "leukocyte disorder",
          "white blood cell disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving leukocytes."
      },
      "child_count": 46,
      "reference_id": "MONDO:0004805"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 6569,
      "label": "leukocyte disorder"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}