{
  "id": 9974,
  "label": "achondrogenesis type IA",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008701",
  "properties": {
    "xrefs": [
      "DOID:0080054",
      "GARD:0000459",
      "ICD9:756.9",
      "MEDGEN:78546",
      "MESH:C536015",
      "OMIM:200600",
      "Orphanet:93299",
      "SCTID:42725006",
      "UMLS:C0265273"
    ],
    "synonyms": [
      "achondrogenesis, Houston-Harris type",
      "ACG1A",
      "Houston-Harris achondrogenesis",
      "achondrogenesis type 1A",
      "achondrogenesis, type 1A",
      "achondrogenesis, type IA"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage."
  },
  "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": 24805,
      "label": "severe spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026429"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of spondylodysplastic dysplasia that has a high degree of severity."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800080"
    },
    {
      "id": 29241,
      "label": "TRIP11-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040009"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19438,
      "label": "achondrogenesis"
    },
    {
      "id": 24805,
      "label": "severe spondylodysplastic dysplasia"
    },
    {
      "id": 29241,
      "label": "TRIP11-related skeletal dysplasia"
    }
  ]
}