{
  "id": 8800,
  "label": "cryptomicrotia-brachydactyly-excess fingertip arch syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007409",
  "properties": {
    "xrefs": [
      "GARD:0008174",
      "MEDGEN:377678",
      "MESH:C536219",
      "OMIM:123560",
      "Orphanet:1547",
      "SCTID:725096002",
      "UMLS:C1852454"
    ],
    "synonyms": [
      "Cryptomicrotia-brachydactyly syndrome",
      "Tonoki-Ohura-Niikawa syndrome",
      "CRYPTOMICROTIA-brachydactyly syndrome",
      "Cryptomicrotia brachydactyly syndrome",
      "Cryptomicrotia brachydactyly syndrome excess fingertip arch",
      "Tonoki Ohura Niikawa syndrome",
      "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch"
    ],
    "definition": "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988."
  },
  "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"
    }
  ]
}