Phenosnap Phenotype Extractor

When to use

Use this skill when the user provides their own:

• clinical phenotypes / symptoms / diagnoses (free text, bullet lists, clinical note-like text), and/or
• drugs/medications (names, dosages, frequencies).

Examples that should trigger:

• “Symptoms: ataxia, seizures, developmental delay. Meds: levetiracetam 500 mg BID.”
• “I’m taking metformin 500mg daily and have fatigue, polyuria, blurry vision.”

When NOT to use

Do not use this skill when:

• The user asks general questions (e.g., “What is HPO?”, “What is a phenotype?”, “What is GLP-1?”).
• The user provides text that is not personal clinical information (news articles, academic paragraphs, code, etc.).
• The user asks you to interpret someone else’s private clinical record (PHI) without clear permission.

Safety & privacy

• Treat user input as potentially sensitive clinical information.
• Do not upload user text or extracted results anywhere (this skill is local-only).
• Before writing any input to disk, redact obvious identifiers:
  • emails, phone numbers, street addresses
  • MRN-like long numeric identifiers (e.g., 8+ digits)
  • names when clearly presented as “Name: …”
• If the message appears to include highly identifying PHI (e.g., name + DOB + address, or name + MRN), pause and ask for confirmation to proceed, recommending the user remove identifiers first.

Requirements / setup

• Python: python3 available on PATH.
• Network access (only for initial PhenoSnap download if missing).
• HPO OBO file:
  • Default expected path: {baseDir}/resources/hp.obo
  • Override path via environment variable: HPO_OBO_PATH
  • This skill does not auto-download hp.obo. You must supply it.

Recommended (best practice):

• Use a virtual environment (venv/conda) before running this skill, because it may install Python packages via pip.

Inputs & outputs

• Input text file (redacted):
  • {baseDir}/artifacts/phenosnap_inputs/input_<YYYYMMDD_HHMMSS>.txt
• Output JSON file (timestamped):
  • {baseDir}/artifacts/phenosnap_outputs/phenotypes_<YYYYMMDD_HHMMSS>.json
• Third-party download cache:
  • {baseDir}/third_party/phenosnap_main.zip
  • {baseDir}/third_party/get-pip.py

Detection heuristic (activation check)

Trigger if the user message contains any of:

• phenotype cues: symptom(s), phenotype(s), Dx, diagnosis, PMH, Hx, history of, or a symptom-like list
• medication cues: meds, medications, taking, prescribed, plus patterns like:
  • dosages: \b\d+(\.\d+)?\s?(mg|mcg|g|ml|units)\b
  • frequencies: qd, q.d., bid, b.i.d., tid, t.i.d., qhs, qAM, qPM, daily, weekly

Do not trigger for purely informational questions without user-provided phenotype/medication content.

Procedure

0) Create required directories

Create if missing:

• {baseDir}/PhenoSnap/
• {baseDir}/artifacts/phenosnap_inputs/
• {baseDir}/artifacts/phenosnap_outputs/
• {baseDir}/resources/
• {baseDir}/third_party/

1) Confirm / redact sensitive identifiers

1. Scan the user message for identifiers (email/phone/address/MRN/name fields).
2. If strongly identifying PHI is present (name + DOB/address/MRN):
   • Ask the user to confirm proceeding and recommend removing identifiers.
3. Produce a redacted version of the user text:
   • Replace emails with [REDACTED_EMAIL]
   • Replace phone numbers with [REDACTED_PHONE]
   • Replace long numeric IDs with [REDACTED_ID]
   • Replace address-like patterns with [REDACTED_ADDRESS]
   • Replace explicit “Name: …” fields with Name: [REDACTED_NAME]

2) Ensure PhenoSnap exists locally

Target location: {baseDir}/PhenoSnap/

2A) If {baseDir}/PhenoSnap/ exists and contains extract_phenotypes.py

Proceed to dependency self-test.

2B) If {baseDir}/PhenoSnap/ does NOT exist (or missing extract_phenotypes.py)

Prefer git; fallback to zip.

If git is available

Run:

• git clone https://github.com/WGLab/PhenoSnap.git "{baseDir}/PhenoSnap"

If git is NOT available

Download zip:

• URL: https://github.com/WGLab/PhenoSnap/archive/refs/heads/main.zip
• Destination: {baseDir}/third_party/phenosnap_main.zip

Download method (pick first available):

• If curl exists:
  • curl -L "https://github.com/WGLab/PhenoSnap/archive/refs/heads/main.zip" -o "{baseDir}/third_party/phenosnap_main.zip"
• Else on Windows PowerShell:
  • Invoke-WebRequest -Uri "https://github.com/WGLab/PhenoSnap/archive/refs/heads/main.zip" -OutFile "{baseDir}/third_party/phenosnap_main.zip"

Unzip (choose by OS/tools):

• Windows PowerShell:
  • Expand-Archive -Path "{baseDir}/third_party/phenosnap_main.zip" -DestinationPath "{baseDir}/third_party/phenosnap_unzip" -Force
• macOS/Linux with unzip:
  • unzip -o "{baseDir}/third_party/phenosnap_main.zip" -d "{baseDir}/third_party/phenosnap_unzip"

If neither unzip nor Expand-Archive is available, use Python:

• python3 -c "import zipfile; z=zipfile.ZipFile(r'{baseDir}/third_party/phenosnap_main.zip'); z.extractall(r'{baseDir}/third_party/phenosnap_unzip')"

Then rename/move the extracted folder to {baseDir}/PhenoSnap/:

• The extracted folder is typically {baseDir}/third_party/phenosnap_unzip/PhenoSnap-main
• Move/rename to {baseDir}/PhenoSnap/

Final check:

• Verify {baseDir}/PhenoSnap/extract_phenotypes.py exists.
• If not found, stop and report the directory listing of {baseDir}/PhenoSnap/ and {baseDir}/third_party/phenosnap_unzip/.

3) Dependency self-test and auto-install

Run from inside {baseDir}/PhenoSnap/.

3A) Smoke test importability

Run:

• python3 -c "import importlib.util; spec=importlib.util.spec_from_file_location('extract_phenotypes','extract_phenotypes.py'); m=importlib.util.module_from_spec(spec); spec.loader.exec_module(m); print('ok')"

If it prints ok, proceed.

3B) If smoke test fails with missing module (ModuleNotFoundError / ImportError)

Step 1: Ensure pip exists for python3

Check:

• python3 -m pip --version

If that fails, try:

• python3 -m ensurepip --upgrade

Check again:

• python3 -m pip --version

If still failing, bootstrap pip via get-pip.py:

• Download https://bootstrap.pypa.io/get-pip.py to {baseDir}/third_party/get-pip.py
  • with curl:
    • curl -L "https://bootstrap.pypa.io/get-pip.py" -o "{baseDir}/third_party/get-pip.py"
  • or PowerShell:
    • Invoke-WebRequest -Uri "https://bootstrap.pypa.io/get-pip.py" -OutFile "{baseDir}/third_party/get-pip.py"
• Install:
  • python3 "{baseDir}/third_party/get-pip.py"
• Verify:
  • python3 -m pip --version

If pip still cannot be used, stop and report the error output.

Step 2: Install PhenoSnap dependencies

From {baseDir}/PhenoSnap/, run:

• python3 -m pip install -r requirements.txt

Step 3: Re-run smoke test once

Re-run:

• python3 -c "import importlib.util; spec=importlib.util.spec_from_file_location('extract_phenotypes','extract_phenotypes.py'); m=importlib.util.module_from_spec(spec); spec.loader.exec_module(m); print('ok')"

If still failing, stop and return:

• the missing module name (from error)
• the command output
• recommended fix (use a venv/conda env; verify python3/pip; rerun pip install)

4) Prepare HPO OBO path

Resolve HPO OBO path in this order:

1. If env var HPO_OBO_PATH is set and file exists, use that.
2. Else use {baseDir}/resources/hp.obo if it exists.

If the resolved file does not exist:

• Stop and tell the user to place hp.obo at {baseDir}/resources/hp.obo or set HPO_OBO_PATH to its full path.

5) Write input file (redacted)

• Timestamp format: YYYYMMDD_HHMMSS (local time).
• Write redacted user text to:
  • {baseDir}/artifacts/phenosnap_inputs/input_<TS>.txt

6) Run extraction

From {baseDir}/PhenoSnap/, run:

• python3 extract_phenotypes.py --input-file "{baseDir}/artifacts/phenosnap_inputs/input_<TS>.txt" --hpo-obo "<HPO_OBO_PATH>" --output "{baseDir}/artifacts/phenosnap_outputs/phenotypes_<TS>.json" --format json

Validate:

• Output file exists
• Output file is non-empty

If validation fails:

• Return stderr/stdout
• Provide troubleshooting steps (missing hp.obo, permission issues, dependency issues)

7) Respond to user

Return a concise confirmation:

• Detected content: “phenotypes” and/or “medications”
• Input file path (redacted)
• Output file path (timestamped JSON)
• Note: no data uploaded; local-only
• Any warnings (e.g., missing hp.obo, PHI redaction/confirmation)

Troubleshooting

• PhenoSnap folder exists but script missing: confirm {baseDir}/PhenoSnap/extract_phenotypes.py exists.
• No git: zip fallback should run; ensure curl/PowerShell is available for download.
• Unzip fails: use Python zipfile fallback.
• pip missing: ensurepip then get-pip.py steps above; consider installing Python with “pip” included.
• Permission errors installing packages: use a virtual environment:
  • python3 -m venv .venv then activate and rerun skill.
• hp.obo missing: place file at {baseDir}/resources/hp.obo or set HPO_OBO_PATH.

Examples

Example 1 (phenotypes + meds)

User:

• “Symptoms: developmental delay, seizures, ataxia. Meds: valproate 250 mg BID.”

Action:

• Write redacted input → run PhenoSnap → output phenotypes_<TS>.json

Example 2 (meds only)

User:

• “Current meds: metformin 500mg daily, atorvastatin 20 mg qhs.”

Action:

• Extract medication entities/phenotype-related terms supported by PhenoSnap → output JSON

Example 3 (should NOT trigger)

User:

• “What is the Human Phenotype Ontology and how is it used?”

Action:

• Do not run extraction; answer informationally outside this skill.