A
licenseA
qualityA
maintenanceMCP server that provides tools to query harmonized gene-disease validity data from the Gene Curation Coalition, supporting consensus and conflict detection for gene-disease assertions.
12
MIT
orphanet-link
by berntpopp
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TDQS
A4.1/5.0
Scored across 19 tools
Disambiguation4/5
Most tools map to clearly distinct data facets, but get_disease can return xrefs, natural history, and other fields that have dedicated tools, and map_cross_ontology overlaps with get_disease's xrefs. The overlap is documented in descriptions, so an agent can still disambiguate, but it is not always obvious which tool is primary.
Naming Consistency5/5
Tool names follow a consistent snake_case verb_noun pattern: get_disease_*, resolve_*, find_diseases_by_*, search_diseases, and batch variants extend the same pattern predictably. This makes the toolset easy to navigate and guess.
Tool Count3/5
19 tools is on the heavy side for an MCP server, and some redundancy exists: get_disease can compose several facets that also have dedicated tools, and resolve_disease_batch/get_disease_batch add convenience but also surface area. The count is defensible for the breadth of Orphanet data, but feels slightly over-scoped.
Completeness5/5
The toolset covers the core Orphanet domain thoroughly: disease resolution and search, full disease records with genes/phenotypes/prevalence/natual-history/disability, reverse lookups by gene and phenotype, classification closure, external cross-reference mapping in both directions, and batch operations. There are no obvious dead ends or missing critical operations for a read-only data server.
Maintenance
ActivityActive
ResponsivenessResponsive