{
  "id": 15506,
  "label": "Catel-Manzke syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014507",
  "properties": {
    "xrefs": [
      "DOID:0081122",
      "GARD:0000028",
      "MEDGEN:375536",
      "MESH:C535347",
      "NORD:901",
      "OMIM:302380",
      "OMIM:616145",
      "Orphanet:1388",
      "SCTID:722383001",
      "UMLS:C1844887",
      "icd11.foundation:1023183031"
    ],
    "synonyms": [
      "Catel Manzke Syndrome",
      "Catel-Manzke syndrome",
      "Palatodigital syndrome, Catel-Manzke type",
      "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome",
      "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome",
      "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome",
      "index finger anomaly-Pierre Robin syndrome",
      "micrognathia digital syndrome",
      "CATMANS",
      "Catel Manzke syndrome",
      "Palatodigital syndrome Catel-Manzke type",
      "Pierre Robin syndrome with hyperphalangy and clinodactyly",
      "index finger anomaly with Pierre Robin syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}