Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614743 http://purl.bioontology.org/ontology/OMIM/614743
Preferred Name	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2
Synonyms	PFBMFT2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PFBMFT2
prefLabel	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2
Gene Symbol	DKCA1 TR PFBMFT2 TERC TRC3
Scope Statement	Variable manifestations [MISCELLANEOUS] Adult onset [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Caused by mutation in the telomerase RNA component gene (TERC, 602322.0004) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007791 http://purl.bioontology.org/ontology/OMIM/MTHU040223 http://purl.bioontology.org/ontology/OMIM/MTHU040221 http://purl.bioontology.org/ontology/OMIM/MTHU040220 http://purl.bioontology.org/ontology/OMIM/MTHU036682 http://purl.bioontology.org/ontology/OMIM/MTHU040222 http://purl.bioontology.org/ontology/OMIM/MTHU009662 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU026570 See more See less
tui	T047
Gene Locus	3q21-q28
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614743
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3553622
OMIM Entry Type	3
OMIM MimType Value	pound

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