{
  "id": 18027,
  "label": "15q overgrowth syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017806",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17378,
      "label": "partial duplication of the long arm of chromosome 15",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:167076",
          "MESH:C538040",
          "Orphanet:262950",
          "UMLS:C0795858"
        ],
        "synonyms": [
          "partial duplication of chromosome 15q",
          "partial duplication of the long arm of chromosome type 15",
          "partial trisomy of chromosome 15q",
          "partial trisomy of the long arm of chromosome 15",
          "15q duplication",
          "15q trisomy",
          "Duplication 15q",
          "chromosome 15q duplication",
          "partial trisomy 15q",
          "trisomy 15q"
        ],
        "definition": "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016965"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    }
  ],
  "children": [
    {
      "id": 14930,
      "label": "distal tetrasomy 15q",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18027
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017424",
          "MEDGEN:766772",
          "OMIM:614846",
          "Orphanet:314588",
          "UMLS:C3553858"
        ],
        "synonyms": [
          "distal tetrasomy type 15q",
          "tetrasomy 15(q25-qter)",
          "tetrasomy 15q26",
          "tetrasomy type 15Q26",
          "levy-Shanske syndrome"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013918"
    },
    {
      "id": 16488,
      "label": "distal trisomy 15q",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18027
      ],
      "type_id": 0,
      "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"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015728"
    }
  ],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17378,
      "label": "partial duplication of the long arm of chromosome 15"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}