rare-disease
rare-disease-diagnosis
Rare Disease Diagnosis v1
Materialized task data for the deeprare-curated-phenotype/v1 agent benchmark in
T0-RSI/ai4sci-tasks.
The files preserve the materializer's host directory layout. This is a frozen
scientific case selection served from the current repository main; later Hub
commits may update packaging or documentation.
public/development/: labeled fit/tune examples for the agent.
public/verifier/: phenotype-only evaluation inputs.
public/reference/: read-only… See the full description on the dataset page: https://huggingface.co/datasets/zifeng-ai/rare-disease-diagnosis.ahsanneural_rare-diseases-orphadata-2026
Rare Diseases - Orphadata 2026
11,456 rare diseases with genes, prevalence, inheritance & medical codes
Dataset Info
Source: Kaggle
Original Size: 1.26 MB
Kaggle Downloads: 433
Files: 5
Files
rare_diseases_complete.csv
rare_diseases_genes.csv
rare_diseases_info.csv
rare_diseases_natural_history.csv
rare_diseases_prevalence.csv
Mirrored from Kaggle
ahsanneural_rare-neurological-diseases-mri-curated-edition
Rare Neurological Diseases MRI - Curated Edition
2K curated MRI scans, 5 diseases, ML-ready splits
Dataset Info
Source: Kaggle
Original Size: 51.62 MB
Kaggle Downloads: 89
Files: 2002
Files
Mirrored from Kaggle
rare-disease-ner-demo
victorocklind/rare-disease-ner-demo
A small rare-disease NER demo dataset.
Labels: ['O', 'B-Rare-Disease', 'I-Rare-Disease']
Splits: train / validation / test
rare-disease-top10-train-datasetai4sci-rare-disease-genotype
Rare Disease Diagnosis v2
Materialized data for the phenotype-genotype-offline/v2 agent task in
T0-RSI/ai4sci-tasks.
Each case is a published rare-disease patient from the GA4GH Phenopacket Store 0.1.27 (HPO
phenotypes and causal variants) whose causal variants were placed into a 1000 Genomes 30x exome
background and annotated with Ensembl VEP 113 and 1000 Genomes reference-panel frequencies.
public/development/{fit,tune}/: labeled development cases (case JSON, VCF, label).… See the full description on the dataset page: https://huggingface.co/datasets/sunweiwei/ai4sci-rare-disease-genotype.
