{
  "id": 15540,
  "label": "motor developmental delay due to 14q32.2 paternally expressed gene defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014541",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 17222,
      "label": "paternal 14q32.2 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15540,
        17331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017220",
          "MEDGEN:1842589",
          "Orphanet:254525",
          "UMLS:C5679639"
        ],
        "synonyms": [
          "paternal del(14)(q32.2)",
          "paternal monosomy 14q32.2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016780"
    },
    {
      "id": 17224,
      "label": "paternal 14q32.2 hypomethylation syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017222",
          "MEDGEN:1842839",
          "Orphanet:254531",
          "UMLS:C5680721"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016782"
    },
    {
      "id": 19635,
      "label": "maternal uniparental disomy of chromosome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15540,
        24419,
        24482
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019915"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}