{
  "id": 12395,
  "label": "acromesomelic dysplasia 1, Maroteaux type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011275",
  "properties": {
    "xrefs": [
      "DOID:0080050",
      "GARD:0000507",
      "MEDGEN:355199",
      "MESH:C535661",
      "OMIM:602875",
      "Orphanet:40",
      "SCTID:718559000",
      "UMLS:C1864356"
    ],
    "synonyms": [
      "acromesomelic dysplasia 1, Maroteaux type",
      "acromesomelic dysplasia, Maroteaux type",
      "AMDM",
      "St. Helena dysplasia",
      "acromesomelic dwarfism Maroteux type",
      "acromesomelic dysplasia Maroteaux type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19474,
      "label": "acromesomelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080049",
          "GARD:0000006",
          "MEDGEN:1710812",
          "MESH:C535658",
          "NORD:724",
          "OMIMPS:602875",
          "Orphanet:93437",
          "UMLS:C5235036",
          "icd11.foundation:2002361676"
        ],
        "synonyms": [
          "acromesomelic dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type"
      },
      "child_count": 8,
      "reference_id": "MONDO:0019696"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19474,
      "label": "acromesomelic dysplasia"
    }
  ]
}