{
  "abstract": "Introduction: The diagnostic accuracy of phenotype-matching tools for rare diseases depends not only on the algorithm but also on the quality of the disease definitions. Inherited kidney diseases (IKDs) pose a significant challenge for clinical diagnosis due to substantial phenotypic overlap and heterogeneity, but many patients remain undiagnosed despite growing access to genetic testing. This study assesses whether an expert-curated, IKD-specific database (CURATED) provides a closer phenotypic match to real patients than the Mondo Disease Ontology (MONDO), a broad, general-purpose resource.\n\nMethods: Using a cohort of 340 real-world patients with genetically confirmed diagnoses across 8 IKD categories, we compared MONDO- and CURATED-based disease definitions across 3 independent, computational phenotype-matching tools (Phenomizer, Phrank, and Phen2Disease), which match Human Phenotype Ontology (HPO)-annotated patient phenotypes to disease profiles, using similarity scoring, diagnostic ranking, and mixed-effects models accounting for disease imbalance and interannotator variability.\n\nResults: With CURATED definitions, similarity scores rose by 18%–30% and Discounted Cumulative Gain (DCG) improved by 15%–37% relative to MONDO, reflecting a stronger tendency across all 3 tools to place the correct diagnosis at or near the top of the ranked list. These improvements were maintained after mixed-effects modeling.\n\nConclusion: The quality of the underlying disease database can be as consequential as the choice of diagnostic algorithm. In this cohort, domain-specific curation improved diagnostic prioritization, suggesting that investment in high-quality, nephrology-specific phenotype resources may advance IKD diagnosis as much as further algorithmic refinement.",
  "abstract_shown": true,
  "affiliations": [
    "Departament d’Enginyeria de Sistemes, B2SLab, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain",
    "Network Biomedical Research Centre for Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain",
    "Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain",
    "Nephrology Department, Fundació Puigvert, Barcelona, Spain",
    "Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, RICORS2040 Renal, Barcelona, Spain",
    "Pediatric Nephrology and Renal Transplant Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Rafael León"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Leonor Fayos de Arizón"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Elizabeth R. Viera"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Joshua Llano Viles"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Jordi Fonollosa"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Mónica Furlano"
    },
    {
      "affs": [
        5
      ],
      "name": "Pedro Arango"
    },
    {
      "affs": [
        5
      ],
      "name": "Víctor López-Báez"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Roser Torra"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Alexandre Perera"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dqq9x8z4a9agh.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ekir.2026.107104",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13733418/",
  "id": "dqq9x8z4a9agh",
  "issns": [
    "2468-0249"
  ],
  "landing_url": "https://doi.org/10.1016/j.ekir.2026.107104",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Clinical Research"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7214405598",
  "pdf_url": "https://www.kireports.org/article/S2468-0249(26)03336-X/pdf",
  "pmcid": "PMC13733418",
  "pmid": "42985555",
  "published": "2026-09-25",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/dqq9x8z4a9agh.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:23:12Z",
      "native_id": "PMC13733418",
      "source": "pmc",
      "url": "https://doi.org/10.1016/j.ekir.2026.107104"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Improving the Diagnosis of Inherited Kidney Diseases Through Domain-Specific Databases",
  "title_text": "Improving the Diagnosis of Inherited Kidney Diseases Through Domain-Specific Databases",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:23:12Z",
  "url": "https://research.draconitic.com/paper/dqq9x8z4a9agh",
  "venue": "Kidney International Reports",
  "versions": []
}