{
  "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": 171836,
            "Preferred term": "Amelogenesis imperfecta-gingival hyperplasia 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": "646",
          "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": "K00.5",
          "Source": "ICD-10"
        },
        {
          "DisorderMappingICDRefUri": 901063273,
          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#1923123066",
          "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": "LA30.6",
          "Source": "ICD-11"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0008771",
          "Source": "MONDO"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C538241",
          "Source": "MeSH"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "204690",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C2931783",
          "Source": "UMLS"
        }
      ],
      "ORPHAcode": 1031,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031",
      "Preferred term": "Enamel-renal syndrome",
      "SummaryInformation": [
        {
          "Definition": "A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure."
        }
      ],
      "Synonym": [
        "Amelogenesis imperfecta-nephrocalcinosis syndrome"
      ],
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and cross-referencing"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 1031
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/1031"
}