{
  "id": 10800,
  "label": "Frank-Ter Haar syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009579",
  "properties": {
    "xrefs": [
      "DOID:0111789",
      "GARD:0005138",
      "MEDGEN:383652",
      "MESH:C536577",
      "MESH:C537274",
      "OMIM:211170",
      "OMIM:249420",
      "Orphanet:137834",
      "SCTID:720958002",
      "UMLS:C1855305",
      "icd11.foundation:1643548765"
    ],
    "synonyms": [
      "Borrone Dermatocardioskeletal syndrome",
      "Borrone di Rocco Crovato syndrome",
      "Frank-Ter Haar syndrome",
      "Ter Haar syndrome",
      "Borrone dermatocardioskeletal syndrome",
      "FRANK-TER Haar syndrome",
      "FTHS",
      "Frank Ter Haar syndrome",
      "Melnick-Needles syndrome, autosomal recessive",
      "Melnick-Needles syndrome, autosomal recessive, formerly",
      "autosomal recessive Melnick-Needles syndrome (formerly)",
      "megalocornea, multiple skeletal anomalies, and developmental delay"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19470,
      "label": "filamin-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019190",
          "MEDGEN:1842239",
          "Orphanet:93425",
          "UMLS:C5680280"
        ],
        "synonyms": [
          "bone filaminopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019690"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19470,
      "label": "filamin-related bone disorder"
    }
  ]
}