Multisystem Phenotype Tally
Summarize observed symptoms across body systems without inferring a genetic cause.
Description
A phenotype summary can count symptoms across several body systems.
A phenotype summary can count symptoms across several body systems. Breadth of involvement is descriptive and does not identify a genetic cause.
Summarize observed symptoms across body systems without inferring a genetic cause.
When to use Multisystem Phenotype Tally
Use this for the following task: Summarize observed symptoms across body systems without inferring a genetic cause.
Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
How to use Multisystem Phenotype Tally and understand its results
- Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
- Enter observedSystems, observedSymptoms using the field table, then run the tool.
- Read distinctSystems, systemCount, symptomCount. Interpret flags, units, ordering and placeholder values using the rules below.
- Review any reported issue or failed check, correct the supplied values when appropriate, and verify the result in its intended context.
| Input field | Meaning | Value type and bounds | Requirement |
|---|---|---|---|
| observedSystems | Observed systems | list of string; each entry: string | Required |
| observedSymptoms | Observed symptoms | list of string; each entry: string | Required |
Align nonblank system and symptom labels, requiring unique symptom labels. Return system keys in first-occurrence order and the two counts.1
systemCount = distinct exact system labels; symptomCount = distinct symptom labels This summarizes the declared operation. Units, indexing, inclusivity and exceptional cases are explained in the surrounding text.
| Output field | Meaning | Value type |
|---|---|---|
| distinctSystems | Distinct systems | list of string |
| systemCount | System count | number |
| symptomCount | Symptom count | number |
{
"input": {
"observedSystems": [
"cardiac",
"skeletal",
"cardiac"
],
"observedSymptoms": [
"a",
"b",
"c"
]
},
"output": {
"distinctSystems": [
"cardiac",
"skeletal"
],
"systemCount": 2,
"symptomCount": 3
}
}Limitations and assumptions
Labels are compared exactly without ontology normalization. No diagnosis or causal classification is performed.
The tool evaluates supplied observations or a declared model. It does not establish the biological cause of an observed pattern. Malformed requests produce input errors. A successfully evaluated request can still contain false flags, empty result lists or a result outside the supplied threshold; those outcomes have the meanings stated above.
Alternative or Complementary methods
Choose Expressivity Grade Distribution for this operation: Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms. For a complementary task, use Genotype Carrier Penetrance for this operation: Estimate observed penetrance among assessed carriers of a defined genotype.
The implementation reference documents the exact calculation, supported input shapes and returned fields.
References
-
Multisystem Phenotype Tally — tool.io
Similar or alternative tools
- Expressivity Grade Distribution
Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms.
- Genotype Carrier Penetrance
Estimate observed penetrance among assessed carriers of a defined genotype.