{
  "id": 16488,
  "label": "distal trisomy 15q",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015728",
  "properties": {
    "xrefs": [
      "GARD:0018740",
      "MEDGEN:419879",
      "MESH:C538036",
      "NORD:942",
      "Orphanet:1707",
      "UMLS:C2931705"
    ],
    "synonyms": [
      "Chromosome 15, Distal Trisomy 15q",
      "distal duplication 15q",
      "distal trisomy type 15q",
      "telomeric duplication 15q",
      "trisomy 15qter"
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18027,
      "label": "15q overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087,
        17378,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:81",
          "GARD:0017423",
          "MEDGEN:1661769",
          "Orphanet:314585",
          "UMLS:C4749920"
        ],
        "synonyms": [
          "15q26 overgrowth syndrome"
        ],
        "definition": "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017806"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18027,
      "label": "15q overgrowth syndrome"
    }
  ]
}