[
{
"name": "get_joint_associated_diseases_by_HPO_ID_list",
"description": "Retrieve diseases associated with a list of phenotypes or symptoms by a list of HPO IDs.\n\nArgs:\n HPO_ID_list: Hpo_id_list (array)\n type_of_HPO_ID_list: array\n limit: Limit\n type_of_limit: integer\n offset: Offset\n type_of_offset: integer\n\nQuery example: {\"HPO_ID_list\": [\"HP:0001250\", \"HP:0004322\"], \"limit\": 10, \"offset\": 0}\n\nReturns:\n A list of dictionaries. Each dictionary contains: disease_id-Unique identifier for the disease, disease_name-Disease label, matched_hpo_terms-List of HPO terms that matched, source-Database source, score-Optional joint association score (if available)",
"parameter": {
"type": "object",
"properties": {
"HPO_ID_list": {
"type": "array",
"description": "List of phenotypes or symptoms",
"items": {
"type": "string",
"description": "The HPO ID of the phenotype or symptom."
},
"required": [
"items"
]
},
"limit": {
"type": "integer",
"description": "Number of entries to fetch."
},
"offset": {
"type": "integer",
"description": "Number of initial entries to skip."
}
}
},
"query_schema": {
"category": [
"biolink:DiseaseToPhenotypicFeatureAssociation"
],
"object": null,
"compact": true,
"object_category": [
"biolink:PhenotypicFeature"
],
"limit": 500,
"offset": 0
},
"label": [
"Monarch",
"Phenotype",
"Symptom",
"Disease",
"HPO_ID"
],
"type": "MonarchDiseasesForMultiplePheno",
"tool_url": "/association"
},
{
"name": "get_phenotype_by_HPO_ID",
"description": "Retrieve a phenotype or symptom by its HPO ID.\n\nArgs:\n id: A single HPO identifier\n type: string\n\nQuery example: {\"id\": \"HP:0001250\"}\n\nReturns:\n A dictionary containing: hpo_id-The HPO identifier, phenotype_label-Human-readable name, definition-Formal definition of the term, synonyms-List of synonyms, parents-Parent term IDs, xrefs-Cross-references to other ontologies",
"parameter": {
"type": "object",
"properties": {
"id": {
"type": "string",
"description": "The HPO ID of the phenotype or symptom."
},
"required": [
"id"
]
}
},
"query_schema": {
"id": null,
"url_key": "id"
},
"label": [
"Monarch",
"Phenotype",
"Symptom",
"HPO_ID"
],
"type": "Monarch",
"tool_url": "/entity/{url_key}"
},
{
"name": "get_HPO_ID_by_phenotype",
"description": "Retrieve one or more HPO ID of a phenotype or symptom.\n\nArgs:\n query: Phenotype keyword to search\n type_of_query: string\n limit: Maximum number of results to return\n typr_of_limit: integer\n offset: Number of results to skip\n type_of_offset: integer\n\nQuery example: {\"query\": \"seizure\", \"limit\": 10, \"offset\": 0}\n\nReturns:\n A list of dictionaries, each containing hpo_id-HPO term identifier, phenotype_label-Human-readable label, definition-Optional textual definition, synonyms-List of synonym terms, match_score-Optional similarity or relevance score",
"parameter": {
"type": "object",
"properties": {
"query": {
"type": "string",
"description": "One query phenotype or symptom."
},
"limit": {
"type": "integer",
"description": "Number of entries to fetch."
},
"offset": {
"type": "integer",
"description": "Number of initial entries to skip."
},
"required": [
"query"
]
}
},
"query_schema": {
"query": null,
"category": [
"biolink:PhenotypicFeature"
],
"limit": 20,
"offset": 0
},
"label": [
"Monarch",
"Phenotype",
"Symptom",
"HPO_ID"
],
"type": "Monarch",
"tool_url": "/search"
}
]