{
  "id": 14091,
  "label": "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013053",
  "properties": {
    "xrefs": [
      "GARD:0017116",
      "MEDGEN:414129",
      "MESH:C567850",
      "OMIM:612946",
      "Orphanet:217026",
      "SCTID:719395001",
      "UMLS:C2751878"
    ],
    "synonyms": [
      "Hadziselimovic syndrome",
      "microcephaly-faciocardioskeletal syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6967,
      "label": "heart disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:114",
          "EFO:0003777",
          "ICD9:429.89",
          "ICD9:429.9",
          "ICD9:V47.2",
          "MEDGEN:5458",
          "MESH:D006331",
          "NCIT:C3079",
          "SCTID:56265001",
          "UMLS:C0018799",
          "icd11.foundation:1512587470"
        ],
        "synonyms": [
          "cardiac disease",
          "disease of heart",
          "disease or disorder of heart",
          "disorder of heart",
          "disorder of heart/pericardium",
          "heart disease",
          "heart disease or disorder",
          "heart disorder",
          "heart trouble",
          "heart/pericardial disease",
          "heart/pericardial disease or disorder",
          "heart/pericardial disorder",
          "heart/pericardial trouble"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the heart and/or pericardium."
      },
      "child_count": 34,
      "reference_id": "MONDO:0005267"
    },
    {
      "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": 6967,
      "label": "heart disorder"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}