{
  "id": 14151,
  "label": "metaphyseal anadysplasia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013113",
  "properties": {
    "xrefs": [
      "GARD:0015610",
      "MEDGEN:414350",
      "MESH:C567771",
      "OMIM:613073",
      "UMLS:C2751322"
    ],
    "synonyms": [
      "MMP9 metaphyseal anadysplasia",
      "metaphyseal anadysplasia 2",
      "metaphyseal anadysplasia caused by mutation in MMP9",
      "metaphyseal anadysplasia type 2",
      "MANDP2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16101,
      "label": "metaphyseal anadysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003562",
          "ICD9:756.9",
          "MEDGEN:96582",
          "MESH:C537351",
          "OMIM:309645",
          "Orphanet:1040",
          "SCTID:254085009",
          "UMLS:C0432226",
          "icd11.foundation:327336919"
        ],
        "synonyms": [
          "Maroteaux-Verloes-Stanescu syndrome",
          "regressive metaphyseal dysplasia",
          "MAD",
          "Maroteaux Verloes Stanescu syndrome",
          "early-onset regressive form of metaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."
      },
      "child_count": 1,
      "reference_id": "MONDO:0015177"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16101,
      "label": "metaphyseal anadysplasia"
    }
  ]
}