{
  "id": 13046,
  "label": "paternal uniparental disomy of chromosome 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011975",
  "properties": {
    "xrefs": [
      "GARD:0005409",
      "MEDGEN:1843450",
      "MESH:C536471",
      "NANDO:1200685",
      "OMIM:608149",
      "Orphanet:96334",
      "UMLS:C5680251",
      "icd11.foundation:1835121942"
    ],
    "synonyms": [
      "UPD(14)pat",
      "paternal uniparental disomy of chromosome 14",
      "paternal uniparental disomy of chromosome type 14",
      "KAGAMI-Ogata syndrome",
      "paternal uniparental disomy 14",
      "uniparental disomy, paternal, chromosome 14"
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17221,
      "label": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087,
        24225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111712",
          "GARD:0017219",
          "MEDGEN:1830421",
          "Orphanet:254519",
          "UMLS:C5779872"
        ],
        "synonyms": [
          "Kagami-Ogata syndrome",
          "MCA due to 14q32.2 maternally expressed gene defect"
        ],
        "definition": "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016779"
    },
    {
      "id": 24419,
      "label": "chromosome 14 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 14 is affected."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700021"
    },
    {
      "id": 24482,
      "label": "uniparental disomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:181871",
          "MESH:D024182",
          "NCIT:C85215",
          "UMLS:C0949628"
        ],
        "definition": "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders."
      },
      "child_count": 27,
      "reference_id": "MONDO:0700086"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17221,
      "label": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect"
    },
    {
      "id": 24419,
      "label": "chromosome 14 disorder"
    },
    {
      "id": 24482,
      "label": "uniparental disomy"
    }
  ]
}