CilioSymptom
HPO mapperPaste a clinical note or list symptoms. CilioSymptom recognises ciliopathy-relevant phenotypes and returns canonical Human Phenotype Ontology terms with provenance.
Symptom input
About CilioSymptom
The mapper uses 4,690 trigger phrases canonicalised from 5,767 OMIM clinical-synopsis records spanning 77 ciliopathy disease entities, plus a folk-synonym layer for lay-language input. Each match returns the canonical leaf concept, one or more HPO identifiers, and the originating organ system. Coverage on canonical clinical terminology is high; lay terms outside the synonym layer (e.g. "spoke-like") may not be recognised — this is reported transparently as the “coverage” metric for each query.
The output HPO term set can be used as input to phenotype-driven decision-support tools or, on the same page in an upcoming release, fed directly into CiliaMiner’s information-content-weighted similarity layer to retrieve ranked candidate ciliopathies.