v2

latestOpenAPI 3.1.02026-07-263155112.9 KB
case-phenotype

Get case-phenotype matrix for a disease

Returns a matrix of cases (patients) and their phenotypes for a given disease.

The matrix includes:
- **cases**: List of patient cases with the disease
- **phenotypes**: List of phenotypes observed across all cases
- **bins**: Body system categories (HistoPheno) with phenotype counts
- **cells**: Map of case:phenotype pairs to observation details

Use `direct=true` (default) to get only cases with exactly this disease.
Use `direct=false` to include cases with descendant diseases (subtypes).
get/v3/api/case-phenotype-matrix/{disease_id}

Path parameters

disease_idstring required

MONDO disease ID

Example:MONDO:0007078

MONDO disease ID

Query parameters

directboolean

Only include cases with exactly this disease

Only include cases with exactly this disease

limitinteger

Maximum number of cases

Maximum number of cases

Response

Successful Response

disease_idstring required

The identifier for a disease entity

disease_namestring nullable

The name of a disease entity

total_casesinteger required

Total number of cases in the matrix

total_phenotypesinteger required

Total number of phenotypes in the matrix

cellsobject nullable

Map of case-phenotype cell data keyed by case_id:phenotype_id