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      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
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    "results": {
      "Date": "2026-06-23 07:53:50",
      "DisorderDisorderAssociation": null,
      "DisorderFlag": [
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      "DisorderGroup": "Disorder",
      "ExternalReference": [
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          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "9838",
          "Source": "GARD"
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        {
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          "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)",
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          "DisorderMappingValidationStatus": "Validated",
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          "Source": "ICD-11"
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          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0012052",
          "Source": "MONDO"
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        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C535749",
          "Source": "MeSH"
        },
        {
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          "DisorderMappingICDRefUrl": null,
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          "Reference": "608540",
          "Source": "OMIM"
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        {
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          "Reference": "C2931005",
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      "ORPHAcode": 79327,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327",
      "Preferred term": "ALG1-CDG",
      "SummaryInformation": [
        {
          "Definition": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene <i>ALG1</i> (16p13.3)."
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      ],
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        "Carbohydrate deficient glycoprotein syndrome type Ik",
        "Congenital disorder of glycosylation type 1k",
        "Congenital disorder of glycosylation type Ik",
        "Mannosyltransferase 1 deficiency",
        "CDG syndrome type Ik",
        "CDG-Ik",
        "CDG1K"
      ],
      "Typology": "Disease"
    }
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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