Cortexa research tool·genomics·hpo

HPO Get Term

Get detailed information about a Human Phenotype Ontology (HPO) term by its ID. HPO provides standardized descriptions of phenotypic abnormalities in human disease with over 18,000 terms. Returns the term name, definition, synonyms, cross-references to UMLS/SNOMED, descendant count, and translations. Example: HP:0001250 (Seizure) returns definition, 346 descendants, synonyms including 'Epileptic seizure' and 'Epilepsy', and cross-references to UMLS and SNOMED-CT.

Livelast probed 2026-04-30 23:07Z· 104msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 104ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "term_id": {
      "description": "HPO term identifier. Must start with 'HP:' followed by 7 digits. Examples: 'HP:0001250' (Seizure), 'HP:0001263' (Global developmental delay), 'HP:0000252' (Microcephaly), 'HP:0001249' (Intellectual disability).",
      "type": "string"
    }
  },
  "required": [
    "term_id"
  ],
  "type": "object"
}

Examples (1)

Default HPO Get Term call

public-safeinput

{
  "term_id": ""
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_HPO_get_term
Tool name: HPO_get_term
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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