{
  "id": 10812,
  "label": "metaphyseal acroscyphodysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009592",
  "properties": {
    "xrefs": [
      "GARD:0003519",
      "MEDGEN:344453",
      "MESH:C537350",
      "OMIM:250215",
      "Orphanet:1240",
      "UMLS:C1855243",
      "icd11.foundation:1994645064"
    ],
    "synonyms": [
      "Bellini syndrome",
      "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome",
      "metaphyseal acroscyphodysplasia",
      "Bellini Chiumello Rimoldi syndrome",
      "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly",
      "wedge-Shaped epiphyses of knees",
      "wedge-shaped epiphyses of knees",
      "wedge-shaped epiphyses of the knees with intellectual disability and short stature",
      "wedge-shaped epiphyses of the knees with mental retardation and short stature"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}