{
  "id": 9720,
  "label": "omphalocele syndrome, Shprintzen-Goldberg type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008425",
  "properties": {
    "xrefs": [
      "GARD:0009850",
      "MEDGEN:356653",
      "MESH:C537329",
      "OMIM:182210",
      "Orphanet:3164",
      "SCTID:716230005",
      "UMLS:C1866958"
    ],
    "synonyms": [
      "Shprintzen omphalocele syndrome",
      "Shprintzen-Goldberg omphalocele syndrome",
      "laryngeal and pharyngeal hypoplasia with omphalocele",
      "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis",
      "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies",
      "pharynx and larynx hypoplasia with omphalocele"
    ],
    "definition": "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}