{
  "id": 18939,
  "label": "autosomal recessive osteopetrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019026",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 17540,
      "label": "osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        23099
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 22,
      "reference_id": "MONDO:0017198"
    },
    {
      "id": 19769,
      "label": "hereditary optic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019540",
          "MedDRA:10061323",
          "Orphanet:98671",
          "icd11.foundation:2452831"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0020249"
    }
  ],
  "children": [
    {
      "id": 11023,
      "label": "autosomal recessive osteopetrosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110942",
          "GARD:0002579",
          "MEDGEN:376708",
          "MESH:C564915",
          "NCIT:C167215",
          "OMIM:259700",
          "UMLS:C1850127"
        ],
        "synonyms": [
          "OPTB1",
          "TCIRG1 autosomal recessive malignant osteopetrosis",
          "TCIRG1 autosomal recessive osteopetrosis",
          "autosomal recessive Albers-Schonberg disease",
          "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1",
          "autosomal recessive osteopetrosis 1",
          "autosomal recessive osteopetrosis caused by mutation in TCIRG1",
          "autosomal recessive osteopetrosis type 1",
          "infantile malignant osteopetrosis 1",
          "osteopetrosis, autosomal recessive type 1",
          "Albers-Schonberg disease, autosomal recessive",
          "marble bones autosomal recessive",
          "marble bones, autosomal recessive",
          "osteopetrosis autosomal recessive 1",
          "osteopetrosis infantile malignant 1",
          "osteopetrosis, autosomal recessive 1",
          "osteopetrosis, infantile malignant 1"
        ],
        "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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009815"
    },
    {
      "id": 11024,
      "label": "autosomal recessive osteopetrosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110943",
          "GARD:0004157",
          "MEDGEN:342420",
          "MESH:C536059",
          "OMIM:259710",
          "UMLS:C1850126"
        ],
        "synonyms": [
          "OPTB2",
          "TNFSF11 autosomal recessive malignant osteopetrosis",
          "TNFSF11 autosomal recessive osteopetrosis",
          "TNFSF11-related osteopetrosis",
          "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11",
          "autosomal recessive osteopetrosis caused by mutation in TNFSF11",
          "autosomal recessive osteopetrosis type 2",
          "osteopetrosis, autosomal recessive type 2",
          "osteopetrosis autosomal recessive 2",
          "osteopetrosis osteoclast-poor",
          "osteopetrosis, autosomal recessive 2",
          "osteopetrosis, mild autosomal recessive form",
          "osteopetrosis, osteoclast-poor"
        ],
        "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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009816"
    },
    {
      "id": 11025,
      "label": "autosomal recessive osteopetrosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12000,
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110939",
          "GARD:0004153",
          "MEDGEN:409627",
          "MESH:C566883",
          "OMIM:259720",
          "UMLS:C1968603"
        ],
        "synonyms": [
          "OPTB5",
          "OSTM1 osteopetrosis (disease)",
          "autosomal recessive osteopetrosis 5",
          "autosomal recessive osteopetrosis type 5",
          "osteopetrosis (disease) caused by mutation in OSTM1",
          "osteopetrosis, autosomal recessive type 5",
          "osteopetrosis autosomal recessive 5",
          "osteopetrosis infantile malignant 3",
          "osteopetrosis, autosomal recessive 5",
          "osteopetrosis, infantile malignant 3"
        ],
        "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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009817"
    },
    {
      "id": 11026,
      "label": "autosomal recessive osteopetrosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110941",
          "GARD:0004154",
          "ICD9:588.89",
          "MEDGEN:91042",
          "MESH:C536058",
          "NCIT:C118438",
          "OMIM:259730",
          "Orphanet:2785",
          "SCTID:254122007",
          "UMLS:C0345407"
        ],
        "synonyms": [
          "Autosomal Recessive osteopetrosis, type 3",
          "CA2 osteopetrosis (disease)",
          "Guibaud-Vainsel syndrome",
          "OPTB3",
          "autosomal recessive osteopetrosis type 3",
          "carbonic anhydrase 2 deficiency",
          "carbonic anhydrase II deficiency",
          "marble brain disease",
          "mixed RTA",
          "mixed renal tubular acidosis",
          "osteopetrosis (disease) caused by mutation in CA2",
          "osteopetrosis with renal tubular acidosis",
          "osteopetrosis, autosomal recessive 3, with renal tubular acidosis",
          "osteopetrosis, autosomal recessive type 3",
          "renal tubular acidosis type 3",
          "Guibaud Vainsel syndrome",
          "osteopetrosis autosomal recessive 3",
          "osteopetrosis, autosomal recessive 3"
        ],
        "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": "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009818"
    },
    {
      "id": 13716,
      "label": "autosomal recessive osteopetrosis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110944",
          "GARD:0005993",
          "MEDGEN:370598",
          "MESH:C566933",
          "OMIM:611490",
          "UMLS:C1969106"
        ],
        "synonyms": [
          "CLCN7 autosomal recessive malignant osteopetrosis",
          "CLCN7 autosomal recessive osteopetrosis",
          "CLCN7-related osteopetrosis",
          "OPTB4",
          "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7",
          "autosomal recessive osteopetrosis caused by mutation in CLCN7",
          "autosomal recessive osteopetrosis type 4",
          "osteopetrosis, autosomal recessive type 4",
          "osteopetrosis autosomal recessive 4",
          "osteopetrosis infantile malignant 2",
          "osteopetrosis, autosomal recessive 4",
          "osteopetrosis, infantile malignant 2"
        ],
        "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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012676"
    },
    {
      "id": 13719,
      "label": "autosomal recessive osteopetrosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110945",
          "GARD:0004156",
          "MEDGEN:409754",
          "MESH:C566931",
          "OMIM:611497",
          "Orphanet:210110",
          "UMLS:C1969093"
        ],
        "synonyms": [
          "OPTB6",
          "PLEKHM1 osteopetrosis (disease)",
          "autosomal recessive intermediate osteopetrosis",
          "autosomal recessive osteopetrosis type 6",
          "osteopetrosis (disease) caused by mutation in PLEKHM1",
          "osteopetrosis, autosomal recessive type 6",
          "intermediate osteopetrosis",
          "osteopetrosis autosomal recessive 6",
          "osteopetrosis autosomal recessive intermediate form",
          "osteopetrosis, autosomal recessive 6",
          "osteopetrosis, autosomal recessive, Intermediate form"
        ],
        "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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012679"
    },
    {
      "id": 13899,
      "label": "autosomal recessive osteopetrosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110946",
          "GARD:0010106",
          "MEDGEN:436770",
          "MESH:C567354",
          "OMIM:612301",
          "Orphanet:178389",
          "UMLS:C2676766"
        ],
        "synonyms": [
          "OPTB7",
          "TNFRSF11A osteopetrosis (disease)",
          "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia",
          "autosomal recessive osteopetrosis type 7",
          "osteopetrosis (disease) caused by mutation in TNFRSF11A",
          "osteopetrosis, autosomal recessive type 7",
          "osteopetrosis-hypogammaglobulinemia syndrome",
          "osteopetrosis autosomal recessive 7",
          "osteopetrosis osteoclast-poor with hypogammaglobulinemia",
          "osteopetrosis, autosomal recessive 7",
          "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012859"
    },
    {
      "id": 14055,
      "label": "leukocyte adhesion deficiency 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17851,
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110912",
          "GARD:0016915",
          "MEDGEN:411605",
          "MESH:C567555",
          "OMIM:612840",
          "Orphanet:99844",
          "UMLS:C2748536"
        ],
        "synonyms": [
          "FERMT3 leukocyte adhesion deficiency",
          "IADD",
          "LAD-III",
          "LAD1V",
          "LAD3",
          "integrin activation deficiency disease",
          "lad-1 variant",
          "lad-III",
          "leukocyte adhesion deficiency 1 variant",
          "leukocyte adhesion deficiency 3",
          "leukocyte adhesion deficiency caused by mutation in FERMT3",
          "leukocyte adhesion deficiency type 3",
          "leukocyte adhesion deficiency type III",
          "leukocyte adhesion deficiency-1 variant",
          "integrin Activation deficiency disease",
          "leukocyte adhesion deficiency, type 3",
          "leukocyte adhesion deficiency, type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013016"
    },
    {
      "id": 15050,
      "label": "autosomal recessive osteopetrosis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110940",
          "GARD:0015905",
          "MEDGEN:767392",
          "NCIT:C150556",
          "OMIM:615085",
          "UMLS:C3554478"
        ],
        "synonyms": [
          "OPTB8",
          "SNX10 autosomal recessive malignant osteopetrosis",
          "SNX10 autosomal recessive osteopetrosis",
          "autosomal recessive malignant osteopetrosis caused by mutation in SNX10",
          "autosomal recessive osteopetrosis caused by mutation in SNX10",
          "autosomal recessive osteopetrosis type 8",
          "osteopetrosis, autosomal recessive type 8",
          "osteopetrosis, autosomal recessive 8"
        ],
        "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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014040"
    },
    {
      "id": 25630,
      "label": "osteopetrosis, autosomal recessive 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026801",
          "MEDGEN:1841123",
          "OMIM:620366",
          "UMLS:C5830487"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957262"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17540,
      "label": "osteopetrosis"
    },
    {
      "id": 19769,
      "label": "hereditary optic neuropathy"
    }
  ]
}