{
  "data": {
    "__count": 1,
    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:53:50",
      "DisorderDisorderAssociation": [
        {
          "DisorderDisorderAssociationType": "Moved to",
          "RootDisorder": {
            "ORPHAcode": 2895,
            "Preferred term": "Pinsky-Di George-Harley syndrome"
          },
          "TargetDisorder": null
        }
      ],
      "DisorderFlag": [
        {
          "Label": null,
          "Value": 1
        }
      ],
      "DisorderGroup": "Disorder",
      "ExternalReference": [
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "5534",
          "Source": "GARD"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": "Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "Q87.0",
          "Source": "ICD-10"
        },
        {
          "DisorderMappingICDRefUri": 1843090232,
          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#805385297",
          "DisorderMappingICDRelation": "Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "LD20.1",
          "Source": "ICD-11"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0016649",
          "Source": "MONDO"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "600118",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "614222",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "614225",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "615663",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C5442005",
          "Source": "UMLS"
        }
      ],
      "ORPHAcode": 2510,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510",
      "Preferred term": "Micro syndrome",
      "SummaryInformation": [
        {
          "Definition": "A rare neurodevelopmental disorder characterized by severe intellectual disability, progressive spasticity, postnatal microcephaly, and ocular abnormalities, including congenital cataracts, microphthalmia, and optic atrophy. Other frequent findings are hypothalamic hypogonadism and brain malformations."
        }
      ],
      "Synonym": [
        "WARBM",
        "Warburg micro syndrome"
      ],
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and cross-referencing"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 2510
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/2510"
}