{
  "id": 11130,
  "label": "3MC syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009927",
  "properties": {
    "xrefs": [
      "DOID:0060576",
      "EFO:1001977",
      "GARD:0018428",
      "MEDGEN:167115",
      "MESH:C535586",
      "OMIM:265050",
      "Orphanet:2998",
      "UMLS:C0796279"
    ],
    "synonyms": [
      "3MC syndrome 2",
      "3MC syndrome caused by mutation in COLEC11",
      "3MC syndrome type 2",
      "3Mc syndrome type 2",
      "COLEC11 3MC syndrome",
      "3MC2",
      "Carnevale syndrome",
      "Carnevale syndrome, formerly",
      "Osa syndrome",
      "oculo-skeletal-abdominal syndrome",
      "ptosis of eyelids with diastasis recti and hip dysplasia"
    ],
    "definition": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17705,
      "label": "3MC syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060225",
          "GARD:0001118",
          "MEDGEN:929529",
          "NANDO:2200792",
          "OMIMPS:257920",
          "Orphanet:293843",
          "SCTID:720756005",
          "UMLS:C4303860",
          "icd11.foundation:1294329406"
        ],
        "synonyms": [
          "Malpuech-Michels-Mingarelli-Carnevale syndrome",
          "craniofacial-ulnar-renal syndrome"
        ],
        "definition": "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017398"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17705,
      "label": "3MC syndrome"
    }
  ]
}