{
  "id": 17705,
  "label": "3MC syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017398",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10775,
      "label": "3MC syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17705
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060577",
          "GARD:0008531",
          "MEDGEN:208657",
          "MESH:C535704",
          "OMIM:248340",
          "Orphanet:2453",
          "UMLS:C0796032"
        ],
        "synonyms": [
          "3MC syndrome 3",
          "3MC syndrome caused by mutation in COLEC10",
          "3MC syndrome type 3",
          "3Mc syndrome type 3",
          "COLEC10 3MC syndrome",
          "3MC3",
          "Malpuech Facial clefting syndrome",
          "Malpuech Facial clefting syndrome, formerly",
          "facial clefting syndrome, Gypsy type"
        ],
        "definition": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009554"
    },
    {
      "id": 10980,
      "label": "3MC syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17705
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009770"
    },
    {
      "id": 11130,
      "label": "3MC syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17705
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009927"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}