{
  "id": 11588,
  "label": "chromosome Xp11.23-p11.22 duplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010428",
  "properties": {
    "xrefs": [
      "DECIPHER:89",
      "DOID:0060461",
      "GARD:0012766",
      "MEDGEN:440690",
      "MESH:C567585",
      "OMIM:300801",
      "Orphanet:217377",
      "SCTID:721881008",
      "UMLS:C2749022"
    ],
    "synonyms": [
      "Xp11.22-p11.23 Microduplication",
      "chromosome Xp11.23-p11.22 duplication syndrome",
      "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant"
    ],
    "definition": "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 17412,
      "label": "partial duplication of the short arm of chromosome X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826027",
          "Orphanet:263775",
          "UMLS:C5679686"
        ],
        "synonyms": [
          "partial duplication of chromosome Xp",
          "partial duplication of the short arm of chromosome type X",
          "partial trisomy of chromosome Xp",
          "partial trisomy of the short arm of chromosome X"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017009"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17412,
      "label": "partial duplication of the short arm of chromosome X"
    }
  ]
}