{
  "id": 12146,
  "label": "osteoporosis-oculocutaneous hypopigmentation syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011020",
  "properties": {
    "xrefs": [
      "GARD:0000404",
      "MEDGEN:331321",
      "MESH:C536062",
      "OMIM:601220",
      "Orphanet:2786",
      "SCTID:722113001",
      "UMLS:C1832592"
    ],
    "synonyms": [
      "Hernández-Fragoso syndrome",
      "OOCHS",
      "OOCH",
      "OOCH syndrome",
      "osteoporosis and oculocutaneous hypopigmentation syndrome",
      "osteoporosis oculocutaneous hypopigmentation syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:17",
          "EFO:0009676",
          "ICD9:729.99",
          "MEDGEN:6471",
          "MESH:D009140",
          "NCIT:C107377",
          "SCTID:928000",
          "UMLS:C0026857"
        ],
        "synonyms": [
          "disease of musculoskeletal system",
          "disease or disorder of musculoskeletal system",
          "disorder of musculoskeletal system",
          "musculoskeletal disease",
          "musculoskeletal system disease",
          "musculoskeletal system disease or disorder",
          "musculoskeletal system disorder",
          "musculoskeletal disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the musculoskeletal system."
      },
      "child_count": 22,
      "reference_id": "MONDO:0002081"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}