{
  "id": 12095,
  "label": "achondrogenesis type IB",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010966",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2777,
      "label": "mineral metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009556",
          "ICD10CM:E83",
          "ICD9:275.8",
          "ICD9:275.9",
          "MEDGEN:509562",
          "SCTID:45744005",
          "UMLS:C0154260"
        ],
        "synonyms": [
          "disease of mineral metabolism",
          "disorder of mineral metabolism"
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0000226"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "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": 24315,
      "label": "SLC26A2-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100592"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2777,
      "label": "mineral metabolism disease"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 19438,
      "label": "achondrogenesis"
    },
    {
      "id": 24315,
      "label": "SLC26A2-related skeletal dysplasia"
    }
  ]
}