Searching for rare diseases in PubMed: a blind comparison of Orphanet expert query and query based on terminological knowledge

Table 2 Exemples of queries according to the type of the MeSH term mapped to the HRDO concept

	Types of mapped MeSH terms
	MeSH descriptor	MeSH supplemetary concept	MeSH concept	Not a MeSH term
HRDO concept example	“retinal dystrophy”	“Omenn syndrome”	“Charcot-Marie-Tooth disease, type ib”	“Isolated oxycephaly”
MeSH part of the query	“retinal dystrophies”[MH] OR “retinal dystrophies”[TW] OR “dystrophies, retinal”[TW] OR “dystrophy, retinal”[TW] OR “retinal dystrophy”[TW] OR	“reticuloendotheliosis, familial, with eosinophilia”[NM] OR “reticuloendotheliosis, familial, with eosinophilia”[TW] OR “severe combined immunodeficiency with hypereosinophilia”[TW] OR	“Charcot-Marie-Tooth disease, type ib”[TW] OR “1B, HMSN”[TW] OR “1Bs, HMSN”[TW] OR	-
HRDO part of the query	“Retinal dystrophy”[TW] OR	“Omenn syndrome”[TW] OR “Combined immunodeficiency with hypereosinophilia”[TW] OR	“Charcot-Marie-Tooth disease type 1B”[TW] OR “CMT1B”[TW] OR	“Isolated oxycephaly”[TW] OR “Turricephaly”[TW] OR “Nonsyndromic oxycephaly”[TW] OR
HPO part of the query	“Retinal dystrophy”[TW]	-	-	“Turricephaly”[TW]
OMIM part of the query	-	“Omenn syndrome”[TW]	“Charcot-marie-tooth disease, demyelinating, type 1b”[TW]	-

Each column contains one example of PubMed query corresponding to the HRDO concept in the “HRDO concept example” row. Each row gathers all the synonyms for the considered diseases in one terminology. The final queries are composed by every synonyms of every terminologies, linked by “OR”. The final PubMed query for the Isolated oxycephalydisease is: “Turricephaly”[TW] OR “Nonsyndromic oxycephaly”[TW] OR “Isolated oxycephaly”[TW]. The last “OR” “turricephaly” is redundant. In this case, the final query is deducible from only one terminology (HRDO)

ISSN: 1472-6947