This IP is an innovative compilation of medical records, curated phenotype terms, and anonymized genomic data. Developed from a cohort of 116 patients diagnosed with rare genetic diseases, this dataset offers a comprehensive view into the intersection of genomics and medicine. Each entry includes a redacted genetics consult note from electronic health records, a list of manually curated Human Phenotype Ontology (HPO) terms, and relevant genomic data sourced from the patient’s real Variant Call Format (VCF) files, with causative variants for their conditions. This IP will enable significant advancements in research, diagnosis, and the treatment of rare diseases. By amalgamating clinical insights with genomic information, it provides a holistic understanding of patient conditions, facilitating precise phenotyping and genetic analysis. This IP is valuable for the development, refinement, and validation of tools and algorithms essential for genomic medicine and rare disease analysis. Its applications extend to pharmaceutical research, precision medicine initiatives, and clinical decision support systems. Unlike comparable datasets such as Deciphering Developmental Disorders (DDD) or MIMIC-III, which lack either medical record text or genomic data, this IP integrates all essential components for comprehensive analysis. It fills a critical gap by offering anonymized genomic data alongside curated medical records, ultimately enhancing research capabilities and diagnostic accuracy; its uniqueness lies in its ability to seamlessly bridge clinical and genetic domains. The dataset is currently in the final validation phase, with planned activities including review of clinical text readability, validation of ranking performance on real vs. anonymized genomic data, and refinement of curated phenotype terms. Companies engaged in genomic sequencing, diagnostic tool development, precision medicine solutions, and bioinformatics are prime candidates for licensing this IP.