{
  "id": 9976,
  "label": "acromesomelic dysplasia 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008703",
  "properties": {
    "xrefs": [
      "DOID:0080052",
      "GARD:0001300",
      "MEDGEN:75557",
      "NANDO:2201345",
      "NANDO:2201346",
      "NCIT:C3816",
      "OMIM:200700",
      "Orphanet:2098",
      "UMLS:C0265260"
    ],
    "synonyms": [
      "GREBE chondrodysplasia",
      "Grebe chondrodysplasia",
      "Grebe dysplasia",
      "Langer-Saldino achondrogenesis",
      "acromesomelic dysplasia 2A",
      "acromesomelic dysplasia, Grebe type",
      "chondrodysplasia, Grebe type",
      "type II achondrogenesis",
      "AMDG",
      "Brazilian achondrogenesis",
      "Grebe syndrome",
      "achondrogenesis type II (formerly)",
      "achondrogenesis, Brazilian",
      "achondrogenesis, type II",
      "achondrogenesis, type II, formerly",
      "hypochondrogenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19438,
      "label": "achondrogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080043",
          "GARD:0002882",
          "ICD10CM:Q77.0",
          "MEDGEN:84",
          "MESH:C579878",
          "MedDRA:10066122",
          "NCIT:C84527",
          "NORD:710",
          "OMIMPS:200600",
          "Orphanet:932",
          "SCTID:2391001",
          "UMLS:C0001079",
          "icd11.foundation:103965243"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019648"
    },
    {
      "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": 19438,
      "label": "achondrogenesis"
    },
    {
      "id": 19474,
      "label": "acromesomelic dysplasia"
    }
  ]
}