Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207-D1217. Reference: Human Phenotype Ontology Downloads Kohler S, Gargano M.HPO provides information on describing these clinical features. Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features.
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