{
  "id": 15455,
  "label": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014455",
  "properties": {
    "xrefs": [
      "GARD:0017727",
      "MEDGEN:863379",
      "OMIM:616007",
      "Orphanet:436174",
      "UMLS:C4014942"
    ],
    "synonyms": [
      "CAGSSS",
      "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020012",
          "MEDGEN:1842942",
          "MESH:D006130",
          "Orphanet:156643",
          "UMLS:C5680637"
        ],
        "synonyms": [
          "genetic endocrine growth disease",
          "growth disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015514"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}