{
  "id": 9990,
  "label": "acromesomelic dysplasia 2C, Hunter-Thompson type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008717",
  "properties": {
    "xrefs": [
      "DOID:0080051",
      "GARD:0000506",
      "MEDGEN:419681",
      "OMIM:201250",
      "Orphanet:968",
      "UMLS:C2930970"
    ],
    "synonyms": [
      "acromesomelic dwarfism",
      "acromesomelic dysplasia 2C, Hunter-Thompson type",
      "acromesomelic dysplasia, Hunter-Thompson type",
      "AMDH",
      "acromesomelic dysplasia Hunter Thompson type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal."
  },
  "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"
    }
  ]
}