{
  "id": 10980,
  "label": "3MC syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009770",
  "properties": {
    "xrefs": [
      "DOID:0060575",
      "EFO:1001978",
      "GARD:0004049",
      "MEDGEN:167100",
      "OMIM:257920",
      "Orphanet:2506",
      "UMLS:C0796059"
    ],
    "synonyms": [
      "3MC syndrome 1",
      "3MC syndrome caused by mutation in MASP1",
      "3MC syndrome type 1",
      "3Mc syndrome type 1",
      "MASP1 3MC syndrome",
      "3MC1",
      "Michels syndrome",
      "Michels syndrome, formerly",
      "craniosynostosis with 51D anomalies",
      "oculopalatoskeletal syndrome"
    ],
    "definition": "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 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"
    }
  ]
}