{
  "id": 17075,
  "label": "mandibuloacral dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016584",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "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"
    },
    {
      "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": [
    {
      "id": 10778,
      "label": "mandibuloacral dysplasia with type A lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17075,
        20345
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009557"
    },
    {
      "id": 13140,
      "label": "mandibuloacral dysplasia with type B lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17075,
        20345
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012074"
    }
  ],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19478,
      "label": "primary osteolysis"
    },
    {
      "id": 19731,
      "label": "hereditary lipodystrophy"
    }
  ]
}