Step 1
Benchmark comparison
Mayo Clinic rare-disease dataset
Clinical setting
We begin with a real clinical scenario.
The case
A 16-year-old boy with delayed puberty and low reproductive hormone signals.
Benchmark
On the Mayo Clinic rare-disease dataset, GenPhenia outperforms Phen2Gene, PCAN, CADA, and PPAR (Mayo Clinic) across Top-1, Top-10, and Top-50 retrieval cutoffs.
Benchmark comparison
Mayo Clinic rare-disease dataset
Clinical record
Patient
Age: 16 years
Sex: male
Clinical diagnosis: hypogonadotropic hypogonadism
History
Presenting feature: delayed puberty
Prior findings: cryptorchidism, microorchidism, micropenis
Biochemical record
Decreased FSH
Decreased LH
Decreased testosterone
Step 1
Entering phenotype data
Natural language
HPO identifier
begin the phenotype
Try delayed puberty, cryptorchidism, micropenis, or decreased serum testosterone concentration.
Step 2
Now the differential diagnosis starts refining the phenotype.
Example question
Analyzing symptoms
GenPhenia is selecting the next question that best reduces the differential.
Compatible diseases
…
How it works
Before answer
Compatible diseases
After answer
Waiting for your answer
What follows
This step can repeat until the phenotype is informative enough.
Step 3
As you scroll, GenPhenia replays the path so far: clinical description, HPO encoding, differential refinement, and gene prioritization.
Step 4
Review the clinical record after the model run.
Phenotype graph
Explore the graph to see the clinical picture in perspective.
Observed findings stay visible while related follow-up terms remain anchored in context.
Get the most out of GenPhenia
More phenotypes and more specific phenotypes improve GenPhenia's output.
Click to add a phenotype and see how your clinical picture changes.