{
  "id": 9975,
  "label": "achondrogenesis type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008702",
  "properties": {
    "xrefs": [
      "DOID:0080056",
      "GARD:0008713",
      "MEDGEN:66315",
      "MESH:C536017",
      "NANDO:2201345",
      "OMIM:200610",
      "Orphanet:93296",
      "UMLS:C0220685"
    ],
    "synonyms": [
      "achondrogenesis type II",
      "achondrogenesis, Langer-Saldino type",
      "achondrogenesis, type II or hypochondrogenesis",
      "ACG2",
      "achondrogenesis type 2",
      "achondrogenesis, type 2",
      "achondrogenesis, type IB",
      "achondrogenesis, type IB, formerly",
      "achondrogenesis, type II",
      "chondrogenesis imperfecta",
      "hypochondrogenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) 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": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19438,
      "label": "achondrogenesis"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    }
  ]
}