{
  "id": 17540,
  "label": "osteopetrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017198",
  "properties": {
    "xrefs": [
      "DOID:13533",
      "GARD:0004155",
      "HP:0011002",
      "ICD10CM:Q78.2",
      "ICD9:756.52",
      "MEDGEN:18223",
      "MESH:D010022",
      "MedDRA:10031280",
      "NANDO:1200998",
      "NANDO:2201013",
      "NCIT:C26840",
      "NORD:1538",
      "Orphanet:2781",
      "SCTID:1926006",
      "UMLS:C0029454",
      "icd11.foundation:1498426606"
    ],
    "synonyms": [
      "Albers-Schonberg disease",
      "marble bone disease",
      "marble bones",
      "osteopetrosis",
      "osteopetrosis (disease)",
      "Albers-Schoenberg disease",
      "osteopetroses",
      "osteopetrosis and related disorders",
      "osteosclerosis fragilis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    },
    {
      "id": 23099,
      "label": "familial osteosclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4938,
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary osteosclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0042973"
    }
  ],
  "children": [
    {
      "id": 9298,
      "label": "melorheostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4253",
          "GARD:0009474",
          "ICD9:756.89",
          "MEDGEN:460981",
          "MESH:D008557",
          "MedDRA:10050284",
          "NANDO:2201364",
          "NCIT:C84887",
          "NORD:1431",
          "OMIM:155950",
          "Orphanet:2485",
          "SCTID:44697002",
          "UMLS:C3149631",
          "icd11.foundation:312433776"
        ],
        "synonyms": [
          "melorheostosis, isolated, somatic mosaic",
          "Mel",
          "melorheostosis, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007970"
    },
    {
      "id": 9466,
      "label": "osteomesopyknosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000391",
          "MEDGEN:98482",
          "MESH:C537792",
          "OMIM:166450",
          "Orphanet:2777",
          "SCTID:254125009",
          "UMLS:C0432264",
          "icd11.foundation:455371627"
        ],
        "synonyms": [
          "axial osteosclerosis",
          "osteomesopyknosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008155"
    },
    {
      "id": 10382,
      "label": "dysosteosclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002012",
          "ICD9:756.9",
          "MEDGEN:98150",
          "MESH:C562973",
          "NANDO:2201365",
          "OMIM:224300",
          "Orphanet:1782",
          "SCTID:254123002",
          "UMLS:C0432262",
          "icd11.foundation:1853176074"
        ],
        "synonyms": [
          "dysosteosclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009138"
    },
    {
      "id": 11142,
      "label": "pycnodysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4625,
        7171,
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080038",
          "GARD:0004611",
          "MEDGEN:116061",
          "MESH:D058631",
          "NANDO:2201023",
          "NCIT:C131187",
          "NORD:1637",
          "OMIM:265800",
          "Orphanet:763",
          "SCTID:89647000",
          "UMLS:C0238402",
          "icd11.foundation:1329974152"
        ],
        "synonyms": [
          "Pyknodysostosis",
          "pycnodysostosis",
          "PKND",
          "Pycd"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009940"
    },
    {
      "id": 11467,
      "label": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540,
        19138,
        19154,
        23904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016681",
          "MEDGEN:929406",
          "MESH:C564538",
          "OMIM:300301",
          "Orphanet:69088",
          "SCTID:720986005",
          "UMLS:C4303737"
        ],
        "synonyms": [
          "OL-EDA-ID",
          "ol-EDA-ID",
          "OLEDAID",
          "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010295"
    },
    {
      "id": 11480,
      "label": "osteopathia striata with cranial sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060886",
          "GARD:0004148",
          "ICD9:733.99",
          "MEDGEN:96590",
          "MESH:C536053",
          "OMIM:300373",
          "Orphanet:2780",
          "SCTID:254129003",
          "UMLS:C0432268"
        ],
        "synonyms": [
          "Osteopathia striata with cranial sclerosis, X-linked dominant",
          "Robinow-Unger syndrome",
          "hyperostosis generalisata with striations",
          "osteopathia striata with cranial sclerosis",
          "OSCS",
          "osteopathia striata - cranial sclerosis",
          "osteopathia striata cranial sclerosis",
          "osteopathia striata-cranial sclerosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010310"
    },
    {
      "id": 12000,
      "label": "infantile osteopetrosis with neuroaxonal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070343",
          "GARD:0010082",
          "MEDGEN:373924",
          "MESH:C536055",
          "OMIM:600329",
          "Orphanet:85179",
          "SCTID:724226009",
          "UMLS:C1838258",
          "icd11.foundation:1434293148"
        ],
        "synonyms": [
          "osteopetrosis and infantile neuroaxonal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010866"
    },
    {
      "id": 15089,
      "label": "osteosclerotic metaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081111",
          "GARD:0017931",
          "MEDGEN:767579",
          "OMIM:615198",
          "Orphanet:500548",
          "UMLS:C3554665"
        ],
        "synonyms": [
          "OSMD",
          "osteosclerotic metaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014080"
    },
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17540,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015012",
          "MEDGEN:1385510",
          "NCIT:C129733",
          "OMIMPS:259700",
          "Orphanet:667",
          "SCTID:367489004",
          "UMLS:C4272578"
        ],
        "synonyms": [
          "OPTB",
          "autosomal recessive malignant osteopetrosis",
          "autosomal recessive osteopetrosis",
          "autosomal recessive osteopetrosis (disease)",
          "infantile malignant osteopetrosis",
          "osteopetrosis (disease), autosomal recessive",
          "malignant osteopetrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019026"
    },
    {
      "id": 20059,
      "label": "autosomal dominant osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025194",
          "MEDGEN:1378401",
          "NCIT:C129732",
          "OMIMPS:607634",
          "UMLS:C4272579"
        ],
        "synonyms": [
          "OPTA",
          "autosomal dominant osteopetrosis (disease)",
          "osteopetrosis (disease), autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal dominant form of osteopetrosis (disease)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0020645"
    },
    {
      "id": 22775,
      "label": "early-onset calcifying leukoencephalopathy-skeletal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540,
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022246",
          "Orphanet:556985"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034143"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 23099,
      "label": "familial osteosclerosis"
    }
  ]
}