{
  "id": 14205,
  "label": "chromosome 5p13 duplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013169",
  "properties": {
    "xrefs": [
      "DOID:0060460",
      "GARD:0017505",
      "MEDGEN:416385",
      "MESH:C567717",
      "OMIM:613174",
      "Orphanet:329802",
      "UMLS:C2750805"
    ],
    "synonyms": [
      "5p13 microduplication syndrome",
      "chromosome 5p13 duplication syndrome",
      "chromosome 5p13 duplication syndrome, isolated cases",
      "dup(5)(p13)",
      "trisomy 5p13"
    ],
    "definition": "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)."
  },
  "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": 17358,
      "label": "partial trisomy/tetrasomy of the short arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17342
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826044",
          "Orphanet:262725",
          "UMLS:C5679722"
        ],
        "synonyms": [
          "partial duplication/triplication of chromosome 5p",
          "partial duplication/triplication of the short arm of chromosome 5",
          "partial trisomy/tetrasomy of chromosome 5p",
          "partial trisomy/tetrasomy of the short arm of chromosome type 5"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016942"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17358,
      "label": "partial trisomy/tetrasomy of the short arm of chromosome 5"
    }
  ]
}