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monarchinitiative
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8 search results found
Exomiser
⭐
174
A Tool to Annotate and Prioritize Exome Variants
Phenopacket Schema
⭐
64
Repository for the GA4GH phenopacket schema
Loinc2hpo
⭐
24
Java library to map LOINC-encoded test results to Human Phenotype Ontology
Phenol
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22
phenol: Phenotype ontology library
Kboom
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12
Bayes OWL Ontology Merging
Owlsim V3
⭐
11
Ontology Based Profile Matching
Hpotextmining
⭐
6
Perform text mining for identification of HPO terms in free text from scientific publication.
Phenotefx
⭐
5
PhenoteFX
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