Online Mendelian Inheritance in Man - YOU-HOOVER-FONG SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616954 http://purl.bioontology.org/ontology/OMIM/616954
Preferred Name	YOU-HOOVER-FONG SYNDROME
Synonyms	YHFS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	YHFS
prefLabel	YOU-HOOVER-FONG SYNDROME
Gene Symbol	TEL2 TELO2 CLK2 HCLK2 KIAA0683 YHFS See more See less
Scope Statement	Caused by mutation in the telomere maintenance 2 gene (TELO2, 611140.0001) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU044333 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU040063 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU055538 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU042911 http://purl.bioontology.org/ontology/OMIM/MTHU035790 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU055540 http://purl.bioontology.org/ontology/OMIM/MTHU070207 http://purl.bioontology.org/ontology/OMIM/MTHU040091 See more See less
tui	T047
Gene Locus	16p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616954
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310778
OMIM Entry Type	3
OMIM MimType Value	pound

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