{
  "id": 11113,
  "label": "Wiedemann-Rautenstrauch syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009910",
  "properties": {
    "xrefs": [
      "DOID:0081333",
      "GARD:0000330",
      "ICD9:259.8",
      "MEDGEN:140806",
      "MESH:C536423",
      "NCIT:C121565",
      "NORD:1852",
      "OMIM:264090",
      "Orphanet:3455",
      "SCTID:238874008",
      "UMLS:C0406586"
    ],
    "synonyms": [
      "Wiedemann Rautenstrauch Syndrome",
      "Wiedemann-Rautenstrauch syndrome",
      "neonatal progeroid syndrome",
      "Wiedemann Rautenstrauch syndrome",
      "progeroid syndrome neonatal",
      "progeroid syndrome, neonatal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": 16199,
      "label": "progeroid syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19146,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081332",
          "GARD:0019906",
          "MEDGEN:1864204",
          "MESH:D011371",
          "NANDO:2100221",
          "OMIMPS:176670",
          "Orphanet:139033",
          "UMLS:C5848146",
          "icd11.foundation:926151882"
        ],
        "synonyms": [
          "progeria",
          "progeria or progeroid syndrome"
        ],
        "definition": "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015333"
    },
    {
      "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"
    },
    {
      "id": 24671,
      "label": "POLR3A-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Disorder in which the cause of disease is a variation in the POLR3A gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700276"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 16199,
      "label": "progeroid syndrome"
    },
    {
      "id": 19731,
      "label": "hereditary lipodystrophy"
    },
    {
      "id": 24671,
      "label": "POLR3A-related disorder"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}