{
  "id": 13140,
  "label": "mandibuloacral dysplasia with type B lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012074",
  "properties": {
    "xrefs": [
      "DOID:0081129",
      "GARD:0009989",
      "MEDGEN:332940",
      "MESH:C535706",
      "OMIM:608612",
      "Orphanet:90154",
      "UMLS:C1837756",
      "icd11.foundation:1199517264"
    ],
    "synonyms": [
      "mandibuloacral dysplasia with type B lipodystrophy",
      "MADB",
      "MANDIBULOACRAL dysplasia with type B lipodystrophy",
      "lipodystrophy, type B, associated with Mandibuloacral dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17075,
      "label": "mandibuloacral dysplasia"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}