{
  "id": 19478,
  "label": "primary osteolysis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019707",
  "properties": {
    "xrefs": [
      "GARD:0019204",
      "MEDGEN:1843089",
      "Orphanet:93449",
      "UMLS:C5559806",
      "icd11.foundation:285636466"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "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"
    }
  ],
  "children": [
    {
      "id": 8475,
      "label": "acroosteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015031",
          "MEDGEN:183017",
          "MESH:D030981",
          "NCIT:C35545",
          "OMIM:102400",
          "SCTID:27201004",
          "UMLS:C0917990"
        ],
        "synonyms": [
          "acroosteolysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A condition that is characterized by degeneration of the distal phalanges."
      },
      "child_count": 1,
      "reference_id": "MONDO:0007056"
    },
    {
      "id": 9463,
      "label": "multicentric carpo-tarsal osteolysis with or without nephropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111534",
          "GARD:0003818",
          "MEDGEN:436237",
          "MESH:C567171",
          "OMIM:166300",
          "Orphanet:2774",
          "SCTID:766992008",
          "UMLS:C2674705"
        ],
        "synonyms": [
          "idiopathic multicentric osteolysis with or without nephropathy",
          "multicentric carpo-tarsal osteolysis with or without nephropathy",
          "Carnevale canun Mendoza syndrome",
          "MCTO",
          "multicentric carpotarsal osteolysis syndrome",
          "multicentric osteolysis nephropathy",
          "multicentric osteolysis, autosomal dominant",
          "osteolysis, hereditary, of carpal bones with or without nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008152"
    },
    {
      "id": 9486,
      "label": "pacman dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004189",
          "MEDGEN:331566",
          "MESH:C538095",
          "OMIM:167220",
          "Orphanet:1952",
          "SCTID:722127006",
          "UMLS:C1833676",
          "icd11.foundation:519938437"
        ],
        "synonyms": [
          "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome",
          "pacman dysplasia",
          "Pacman syndrome",
          "epiphyseal stippling with osteoclastic hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008175"
    },
    {
      "id": 9582,
      "label": "familial expansile osteolysis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111542",
          "GARD:0009168",
          "ICD9:756.9",
          "MEDGEN:96593",
          "MESH:C536335",
          "OMIM:174810",
          "Orphanet:85195",
          "SCTID:254153009",
          "UMLS:C0432292",
          "icd11.foundation:1161028858"
        ],
        "synonyms": [
          "McCabe disease",
          "familial expansile osteolysis",
          "hereditary expansile polyostotic osteolytic dysplasia",
          "EOF",
          "FEO",
          "HEPOD",
          "Mccabe disease",
          "expansile osteolysis, familial",
          "osteolysis, familial expansile",
          "polyostotic osteolytic dysplasia, hereditary expansile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008275"
    },
    {
      "id": 9616,
      "label": "Hutchinson-Gilford progeria syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16199,
        19478,
        20345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3911",
          "GARD:0007467",
          "ICD9:259.8",
          "MEDGEN:46123",
          "MedDRA:10036794",
          "NANDO:1201007",
          "NANDO:2200833",
          "NCIT:C34951",
          "NORD:1257",
          "OMIM:176670",
          "Orphanet:740",
          "SCTID:238870004",
          "UMLS:C0033300"
        ],
        "synonyms": [
          "progeria",
          "HGPS",
          "Hutchinson-Gilford disease",
          "Hutchinson-Gilford progeria",
          "Hutchinson-Gilford progeria syndrome",
          "premature senility syndrome",
          "Hutchinson Gilford progeria syndrome",
          "progeria syndrome, childhood-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008310"
    },
    {
      "id": 10340,
      "label": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18952,
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090112",
          "GARD:0009921",
          "ICD9:758.89",
          "MEDGEN:387795",
          "NANDO:1200658",
          "OMIMPS:221770",
          "Orphanet:2770",
          "SCTID:702347001",
          "UMLS:C1857316"
        ],
        "synonyms": [
          "NHD",
          "Nasu-Hakola disease",
          "PLO-SL",
          "PLOSL",
          "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy",
          "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly",
          "brain-bone-fat disease",
          "dementia, prefrontal, with bone cysts",
          "dementia, progressive, with lipomembranous polycystic osteodysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009092"
    },
    {
      "id": 10472,
      "label": "hyaline fibromatosis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111669",
          "GARD:0022029",
          "MEDGEN:1805033",
          "OMIM:228600",
          "Orphanet:498474",
          "UMLS:C5574677"
        ],
        "synonyms": [
          "hyaline fibromatosis syndrome",
          "HFS",
          "hyalinosis, systemic",
          "infantile systemic hyalinosis (former subtype)",
          "inherited systemic hyalinosis",
          "juvenile hyaline fibromatosis (former subtype)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0009229"
    },
    {
      "id": 11019,
      "label": "autosomal recessive distal osteolysis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004299",
          "MEDGEN:376714",
          "MESH:C536052",
          "OMIM:259610",
          "Orphanet:2776",
          "SCTID:715487005",
          "UMLS:C1850143",
          "icd11.foundation:1878981266"
        ],
        "synonyms": [
          "Petit-Fryns syndrome",
          "distal osteolysis-short stature-intellectual disability syndrome",
          "osteolysis syndrome recessive",
          "osteolysis syndrome, recessive",
          "osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance",
          "osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance",
          "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance",
          "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009810"
    },
    {
      "id": 12305,
      "label": "Paget disease of bone 2, early-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7062,
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081365",
          "GARD:0024779",
          "MEDGEN:899166",
          "OMIM:602080",
          "UMLS:C4085251"
        ],
        "synonyms": [
          "Paget disease of bone 2, early-onset",
          "PDB2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011183"
    },
    {
      "id": 13386,
      "label": "talo-patello-scaphoid osteolysis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010061",
          "MEDGEN:400611",
          "MESH:C536894",
          "OMIM:609655",
          "Orphanet:50809",
          "UMLS:C1864784",
          "icd11.foundation:1276091756"
        ],
        "synonyms": [
          "singh-Williams-McAlister syndrome",
          "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012330"
    },
    {
      "id": 14553,
      "label": "Nestor-Guillermo progeria syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16199,
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081334",
          "GARD:0011008",
          "MEDGEN:462796",
          "OMIM:614008",
          "Orphanet:280576",
          "UMLS:C3151446"
        ],
        "synonyms": [
          "BANF1-related neurodevelopmental syndrome",
          "NGPS",
          "Nestor-Guillermo progeria syndrome",
          "PSCOO",
          "progeria syndrome, childhood-onset, with osteolysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013523"
    },
    {
      "id": 17075,
      "label": "mandibuloacral dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16089,
        16198,
        19478,
        19731
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081127",
          "GARD:0011893",
          "MEDGEN:98485",
          "NORD:1398",
          "OMIMPS:248370",
          "Orphanet:2457",
          "UMLS:C0432291",
          "icd11.foundation:1687046570"
        ],
        "synonyms": [
          "MAD",
          "mandibuloacral dysplasia with lipodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016584"
    },
    {
      "id": 18278,
      "label": "phalangeal microgeodic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021524",
          "MEDGEN:1658987",
          "Orphanet:352636",
          "UMLS:C4749465"
        ],
        "synonyms": [
          "phalangeal osteolysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018128"
    },
    {
      "id": 18398,
      "label": "multicentric osteolysis-nodulosis-arthropathy spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017610",
          "MEDGEN:342428",
          "Orphanet:371428",
          "SCTID:716868003",
          "UMLS:C1850155"
        ],
        "synonyms": [
          "MONA spectrum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018298"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}