Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616373 http://purl.bioontology.org/ontology/OMIM/616373
Preferred Name	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
Synonyms	PFBMFT3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PFBMFT3
prefLabel	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
Gene Symbol	DKCB5 KIAA1088 DKCA4 NHL PFBMFT3 RTEL1 C20orf41 See more See less
Scope Statement	Caused by mutation in the regulator of telomere elongation helicase 1 gene (RTEL1, 608833.0014) [MOLECULAR BASIS] Variable manifestations [MISCELLANEOUS] Adult onset [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU007791 http://purl.bioontology.org/ontology/OMIM/MTHU040223 http://purl.bioontology.org/ontology/OMIM/MTHU037132 http://purl.bioontology.org/ontology/OMIM/MTHU010581 http://purl.bioontology.org/ontology/OMIM/MTHU037338 http://purl.bioontology.org/ontology/OMIM/MTHU016807 http://purl.bioontology.org/ontology/OMIM/MTHU076782 http://purl.bioontology.org/ontology/OMIM/MTHU076655 http://purl.bioontology.org/ontology/OMIM/MTHU076817 http://purl.bioontology.org/ontology/OMIM/MTHU037219 See more See less
tui	T047
Gene Locus	20q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616373
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225346
OMIM Entry Type	3
OMIM MimType Value	pound

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