{
  "id": 8624,
  "label": "Osebold-Remondini syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007219",
  "properties": {
    "xrefs": [
      "DOID:0110968",
      "GARD:0000983",
      "MEDGEN:350598",
      "MESH:C537092",
      "OMIM:112910",
      "Orphanet:93382",
      "SCTID:715722003",
      "UMLS:C1862130"
    ],
    "synonyms": [
      "BDA6",
      "Osebold-Remondini syndrome",
      "brachydactyly type A6",
      "brachydactyly, type A6",
      "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities",
      "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities",
      "OSEBOLD-Remondini syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant."
  },
  "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"
    },
    {
      "id": 20260,
      "label": "brachydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6893,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050581",
          "HP:0001156",
          "MEDGEN:67454",
          "MESH:D059327",
          "SCTID:43476002",
          "UMLS:C0221357",
          "icd11.foundation:598200019"
        ],
        "synonyms": [
          "brachydactyly",
          "brachydactyly (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms."
      },
      "child_count": 66,
      "reference_id": "MONDO:0021004"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19474,
      "label": "acromesomelic dysplasia"
    },
    {
      "id": 20260,
      "label": "brachydactyly"
    }
  ]
}