{
  "id": 13047,
  "label": "lipodystrophy-intellectual disability-deafness syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011976",
  "properties": {
    "xrefs": [
      "GARD:0016646",
      "MEDGEN:334166",
      "MESH:C564283",
      "OMIM:608154",
      "Orphanet:50811",
      "SCTID:721973006",
      "UMLS:C1842465"
    ],
    "synonyms": [
      "Rajab-Spranger syndrome",
      "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones",
      "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19731,
      "label": "hereditary lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8053,
        18954,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012597",
          "MEDGEN:1383706",
          "Orphanet:98305",
          "SCTID:724841000",
          "UMLS:C4511302",
          "icd11.foundation:1166232738"
        ],
        "synonyms": [
          "genetic lipodystrophy",
          "genetic lipodystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 33,
      "reference_id": "MONDO:0020087"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19731,
      "label": "hereditary lipodystrophy"
    }
  ]
}