{
  "id": 19438,
  "label": "achondrogenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019648",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019193",
          "MEDGEN:1843363",
          "Orphanet:93434",
          "UMLS:C4736216",
          "icd11.foundation:329165933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0019694"
    }
  ],
  "children": [
    {
      "id": 9974,
      "label": "achondrogenesis type IA",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        24805,
        29241
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008701"
    },
    {
      "id": 9975,
      "label": "achondrogenesis type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        20997
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008702"
    },
    {
      "id": 9976,
      "label": "acromesomelic dysplasia 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        19474
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008703"
    },
    {
      "id": 12095,
      "label": "achondrogenesis type IB",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        18954,
        19438,
        24315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080055",
          "GARD:0000460",
          "MEDGEN:78547",
          "OMIM:600972",
          "Orphanet:93298",
          "UMLS:C0265274"
        ],
        "synonyms": [
          "achondrogenesis Ib",
          "achondrogenesis type IB",
          "achondrogenesis, Parenti-Fraccaro type",
          "ACG1B",
          "Fraccaro achondrogenesis",
          "achondrogenesis type 1B",
          "achondrogenesis, Fraccaro type",
          "achondrogenesis, type 1B",
          "achondrogenesis, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010966"
    },
    {
      "id": 19455,
      "label": "hypochondrogenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080044",
          "GARD:0016815",
          "MEDGEN:107448",
          "MESH:C563007",
          "NANDO:2201346",
          "Orphanet:93297",
          "UMLS:C0542428",
          "icd11.foundation:1494246635"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019669"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia"
    }
  ]
}