{
  "id": 19635,
  "label": "maternal uniparental disomy of chromosome 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019915",
  "properties": {
    "xrefs": [
      "GARD:0016848",
      "MEDGEN:1841563",
      "Orphanet:96184",
      "UMLS:C5680248",
      "icd11.foundation:171193570"
    ],
    "synonyms": [
      "UPD(14)mat",
      "maternal uniparental disomy of chromosome type 14"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15540,
      "label": "motor developmental delay due to 14q32.2 paternally expressed gene defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111713",
          "GARD:0013431",
          "MEDGEN:863995",
          "NCIT:C120409",
          "OMIM:616222",
          "Orphanet:254516",
          "UMLS:C4015558"
        ],
        "synonyms": [
          "mUPD14 syndrome",
          "maternal uniparental disomy chromosome 14 syndrome",
          "TEMPLE syndrome",
          "uniparental disomy, maternal, chromosome 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father."
      },
      "child_count": 3,
      "reference_id": "MONDO:0014541"
    },
    {
      "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": 15540,
      "label": "motor developmental delay due to 14q32.2 paternally expressed gene defect"
    },
    {
      "id": 24419,
      "label": "chromosome 14 disorder"
    },
    {
      "id": 24482,
      "label": "uniparental disomy"
    }
  ]
}