{
  "id": 11019,
  "label": "autosomal recessive distal osteolysis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009810",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19478,
      "label": "primary osteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019204",
          "MEDGEN:1843089",
          "Orphanet:93449",
          "UMLS:C5559806",
          "icd11.foundation:285636466"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0019707"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19478,
      "label": "primary osteolysis"
    }
  ]
}