{
  "id": 10878,
  "label": "mulibrey nanism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009664",
  "properties": {
    "xrefs": [
      "DOID:0050436",
      "GARD:0000095",
      "ICD9:759.89",
      "MEDGEN:99347",
      "MESH:D050336",
      "NCIT:C84906",
      "NORD:1465",
      "OMIM:253250",
      "Orphanet:2576",
      "SCTID:81604003",
      "UMLS:C0524582",
      "icd11.foundation:1167260635"
    ],
    "synonyms": [
      "MUL",
      "Perheentupa syndrome",
      "mulibrey dwarfism",
      "mulibrey nanism",
      "muscle-liver-brain-eye nanism",
      "pericardial constriction and growth failure",
      "pericardial constriction-growth failure syndrome",
      "pericardial constriction and Growth failure"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A prenatal onset growth disorder with multiorgan manifestations."
  },
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 24042,
      "label": "disorder of defective peroxisome oxidative status",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026135"
        ],
        "synonyms": [
          "disorder of defective peroxisome oxidative status"
        ],
        "definition": "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100306"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 24042,
      "label": "disorder of defective peroxisome oxidative status"
    }
  ]
}