Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616353 http://purl.bioontology.org/ontology/OMIM/616353
Preferred Name	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
Synonyms	DKCB6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DKCB6
prefLabel	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
Gene Symbol	PFBMFT4 DAN DKCB6 PARN
Scope Statement	Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the polyadenylate-specific ribonuclease gene (PARN, 604212.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU018552 http://purl.bioontology.org/ontology/OMIM/MTHU036684 http://purl.bioontology.org/ontology/OMIM/MTHU051547 http://purl.bioontology.org/ontology/OMIM/MTHU004627 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU020425 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU036685 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU013333 http://purl.bioontology.org/ontology/OMIM/MTHU051548 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036349 See more See less
tui	T047
Gene Locus	16p13.12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616353
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225356
OMIM Entry Type	3
OMIM MimType Value	pound

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