{
  "id": 12017,
  "label": "pectus excavatum-macrocephaly-dysplastic nails syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010883",
  "properties": {
    "xrefs": [
      "GARD:0000374",
      "MEDGEN:373902",
      "MESH:C536728",
      "OMIM:600399",
      "Orphanet:2835",
      "SCTID:763863002",
      "UMLS:C1838160"
    ],
    "synonyms": [
      "Zori-Stalker-Williams syndrome",
      "Zori Stalker Williams syndrome",
      "familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails",
      "pectus excavatum, macrocephaly and dysplastic nails",
      "pectus excavatum, macrocephaly, short stature, and dysplastic nails"
    ],
    "definition": "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}