{
  "id": 8663,
  "label": "craniofaciofrontodigital syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007259",
  "properties": {
    "xrefs": [
      "GARD:0017571",
      "MEDGEN:393947",
      "MESH:C567298",
      "OMIM:114620",
      "Orphanet:363705",
      "SCTID:763320005",
      "UMLS:C2676032"
    ],
    "synonyms": [
      "Cantu craniofaciofrontodigital syndrome",
      "craniofaciofrontodigital syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)."
  },
  "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": 23977,
      "label": "inherited cutis laxa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026092",
          "MEDGEN:609465",
          "OMIMPS:123700",
          "UMLS:C0432334"
        ],
        "synonyms": [
          "hereditary cutis laxa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of cutis laxa that is inherited."
      },
      "child_count": 28,
      "reference_id": "MONDO:0100237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}