{
  "id": 10977,
  "label": "oculocerebral hypopigmentation syndrome, Cross type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009767",
  "properties": {
    "xrefs": [
      "GARD:0000105",
      "ICD9:759.89",
      "MEDGEN:423639",
      "NORD:1520",
      "OMIM:257800",
      "Orphanet:2719",
      "SCTID:17827007",
      "UMLS:C2936910"
    ],
    "synonyms": [
      "Cross syndrome",
      "Oculocerebral Syndrome with Hypopigmentation",
      "Kramer syndrome",
      "hypopigmentation oculocerebral syndrome Cross type",
      "oculocerebral hypopigmentation syndrome",
      "oculocerebral syndrome with hypopigmentation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18283,
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021125",
          "MEDGEN:1843078",
          "Orphanet:284811",
          "UMLS:C5681016"
        ],
        "synonyms": [
          "syndrome associated with oculocutaneous albinism",
          "syndromic oculocutaneous albinism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A oculocutaneous albinism that is part of a larger syndrome."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017305"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}