Online Mendelian Inheritance in Man - RECON PROGEROID SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620370 http://purl.bioontology.org/ontology/OMIM/620370
Preferred Name	RECON PROGEROID SYNDROME
Synonyms	RECON
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RECON
prefLabel	RECON PROGEROID SYNDROME
Gene Symbol	RECON RECQL RECQL1
Scope Statement	Based on report of 2 sisters and an unrelated girl (last curated May 2023) [MISCELLANEOUS] Caused by mutation in the RECQ protein-like gene (RECQL, 600537.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU057773 http://purl.bioontology.org/ontology/OMIM/MTHU013044 http://purl.bioontology.org/ontology/OMIM/MTHU077187 http://purl.bioontology.org/ontology/OMIM/MTHU077181 http://purl.bioontology.org/ontology/OMIM/MTHU000506 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU005148 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU008464 http://purl.bioontology.org/ontology/OMIM/MTHU077188 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU077186 http://purl.bioontology.org/ontology/OMIM/MTHU000146 http://purl.bioontology.org/ontology/OMIM/MTHU077184 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU021244 http://purl.bioontology.org/ontology/OMIM/MTHU025836 http://purl.bioontology.org/ontology/OMIM/MTHU077182 http://purl.bioontology.org/ontology/OMIM/MTHU009818 http://purl.bioontology.org/ontology/OMIM/MTHU060390 http://purl.bioontology.org/ontology/OMIM/MTHU004142 http://purl.bioontology.org/ontology/OMIM/MTHU077189 http://purl.bioontology.org/ontology/OMIM/MTHU063229 http://purl.bioontology.org/ontology/OMIM/MTHU074920 http://purl.bioontology.org/ontology/OMIM/MTHU077183 http://purl.bioontology.org/ontology/OMIM/MTHU025933 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU002110 http://purl.bioontology.org/ontology/OMIM/MTHU077185 See more See less
tui	T047
Gene Locus	12p12-p11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620370
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5830504
OMIM Entry Type	3
OMIM MimType Value	pound

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