{
  "id": 12134,
  "label": "cleft lip/palate-intestinal malrotation-cardiopathy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011008",
  "properties": {
    "xrefs": [
      "GARD:0003430",
      "MEDGEN:444135",
      "MESH:C538160",
      "OMIM:601165",
      "Orphanet:2001",
      "SCTID:719456001",
      "UMLS:C2931750"
    ],
    "synonyms": [
      "McPherson-Clemens syndrome",
      "McPherson Clemens syndrome",
      "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease",
      "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease"
    ],
    "definition": "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997."
  },
  "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"
    }
  ]
}