{
  "id": 10778,
  "label": "mandibuloacral dysplasia with type A lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009557",
  "properties": {
    "xrefs": [
      "DOID:0081128",
      "GARD:0003374",
      "MEDGEN:1757618",
      "MESH:C535705",
      "NCIT:C123417",
      "OMIM:248370",
      "Orphanet:90153",
      "SCTID:109419009",
      "UMLS:C5399785",
      "icd11.foundation:1756335062"
    ],
    "synonyms": [
      "mandibuloacral dysplasia",
      "mandibuloacral dysplasia with type A lipodystrophy",
      "MADA",
      "MANDIBULOACRAL dysplasia with type A lipodystrophy",
      "Mandibuloacral dysplasia with type a lipodystrophy, atypical",
      "craniomandibular Dermatodysostosis",
      "lipodystrophy, type A, associated with Mandibuloacral dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk."
  },
  "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"
    }
  ]
}