{
  "id": 16989,
  "label": "silver-Russell syndrome due to 7p11.2p13 microduplication",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016479",
  "properties": {
    "xrefs": [
      "GARD:0020603",
      "MEDGEN:1826059",
      "Orphanet:231137",
      "UMLS:C5679840"
    ],
    "synonyms": [
      "Silver-Russell syndrome due to 7p11.2-p13 microduplication",
      "Silver-Russell syndrome due to dup(7)(p11.2p13)",
      "Silver-Russell syndrome due to trisomy 7p11.2-p13",
      "Silver-Russell syndrome due to trisomy 7p11.2p13"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9693,
      "label": "Silver-Russell syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16088,
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14681",
          "GARD:0004870",
          "ICD9:759.89",
          "MEDGEN:104492",
          "MESH:D056730",
          "MedDRA:10062282",
          "NCIT:C85068",
          "NORD:1683",
          "OMIMPS:180860",
          "Orphanet:813",
          "SCTID:15069006",
          "UMLS:C0175693",
          "icd11.foundation:735297495"
        ],
        "synonyms": [
          "Russell Silver syndrome",
          "Russell-Silver Syndrome",
          "Russell-Silver dwarfism",
          "Russell-Silver syndrome",
          "SRS",
          "Silver Russell syndrome",
          "Silver-Russell dwarfism",
          "Silver-Russell syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry."
      },
      "child_count": 44,
      "reference_id": "MONDO:0008394"
    },
    {
      "id": 17360,
      "label": "partial duplication of the short arm of chromosome 7",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17344
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:162875",
          "MESH:C537819",
          "Orphanet:262749",
          "UMLS:C0795820",
          "icd11.foundation:79901143"
        ],
        "synonyms": [
          "partial duplication of chromosome 7p",
          "partial duplication of the short arm of chromosome type 7",
          "partial trisomy of chromosome 7p",
          "partial trisomy of the short arm of chromosome 7",
          "7p duplication",
          "7p trisomy",
          "Duplication 7p",
          "chromosome 7p duplication",
          "partial trisomy 7p",
          "trisomy 7p"
        ],
        "definition": "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 3,
      "reference_id": "MONDO:0016944"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9693,
      "label": "Silver-Russell syndrome"
    },
    {
      "id": 17360,
      "label": "partial duplication of the short arm of chromosome 7"
    }
  ]
}