Rare Disease Diagnosis
rare_disease_diagnosisRank OMIM differential diagnoses by normalizing phenotype terms and analyzing a candidate gene.
Instructions
Normalize phenotype terms and rank OMIM differentials for a candidate gene.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| phenotype_terms | No | Phenotype terms or symptoms to normalize. | |
| gene_symbol | No | Candidate gene symbol. | |
| max_results | No | Maximum ranked differentials to return. Default 10. |