Glossary & Status Legend

Status legend

• LIVE — Fully functional and demo-ready.
• PARTIAL — Core path works, some edges still simulated or marked Coming Soon in-app.
• COMING SOON — Visible in the UI but not yet functional.

Medical terms

• HGVS — Human Genome Variation Society nomenclature for describing genetic variants.
• HPO — Human Phenotype Ontology. Structured vocabulary for human phenotypic abnormalities.
• MONDO — Mondo Disease Ontology. Cross-mappings across disease nomenclatures.
• LOMN — Letter of Medical Necessity. Insurance-facing document justifying a medical device or treatment.
• FHIR — Fast Healthcare Interoperability Resources. The standard for exchanging healthcare data.
• dSPM — Dynamic Statistical Parametric Mapping. Method for estimating cortical activity from scalp EEG.
• IDDSI — International Dysphagia Diet Standardisation Initiative. Standard for texture-modified foods and liquids.
• STARR — Natural history study (Helbig et al., NCT06555965) for STXBP1-related disorders.

Research terms

• Phenopacket — GA4GH v2 standard for exchanging phenotype and genotype data.
• SSSOM — Simple Standard for Sharing Ontology Mappings. TSV format for cross-ontology mapping.
• pLDDT — Predicted Local Distance Difference Test. Per-residue confidence metric for AlphaFold and ESMFold predictions.
• PRESR — ARIA's pathogenicity prediction surface (currently STXBP1-only) covering every possible missense substitution.
• ACMG classification — American College of Medical Genetics five-tier variant classification (Benign, Likely Benign, VUS, Likely Pathogenic, Pathogenic).
• ClinVar SCV accession — Submitted Clinical Variant identifier. Stable reference to a specific submission in ClinVar.

ARIA-specific terms

• Family Navigator — The caregiver-facing surface set.
• Research Mode — The researcher-facing surface set.
• Self-Driving Lab (SDL) — The wet-lab automation surface.
• MAVS — Multi-AI Verification System (Claude + GPT + Gemini + Grok with a structured vote router).
• Ralph Mode — Diagnostic UI-polish sweep.
• Shoggoth Mode — Multi-model security and compliance audit.
• Dream Cycle — Background memory consolidation across sessions.
• Deep Context — Multi-shard knowledge retrieval and synthesis with an explicit cost gate.
• Provenance Badges — Always-visible labels (Simulated · Local · Manual · Not Real-Time) on research surfaces.

File formats used

DOCX, PDF, Phenopacket JSON, SSSOM TSV, CSV, EDF.