Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620040 http://purl.bioontology.org/ontology/OMIM/620040
Preferred Name	DYSKERATOSIS CONGENITA, DIGENIC
Synonyms	DKCD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DKCD
prefLabel	DYSKERATOSIS CONGENITA, DIGENIC
Gene Symbol	TS DKCD TMS TYMS
Scope Statement	Caused by mutation in the thymidylate synthetase gene (TYMS, 188350.0001) and a specific haplotype in the enolase superfamily member 1 gene (ENOSF1, 607427) [MOLECULAR BASIS] Variable manifestations [MISCELLANEOUS] Onset in early childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018552 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU017607 http://purl.bioontology.org/ontology/OMIM/MTHU076228 http://purl.bioontology.org/ontology/OMIM/MTHU014100 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU005751 http://purl.bioontology.org/ontology/OMIM/MTHU051548 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU008785 http://purl.bioontology.org/ontology/OMIM/MTHU036408 See more See less
tui	T047
Gene Locus	18p11.32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620040
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU072373
cui	C5774217
OMIM Entry Type	3
OMIM MimType Value	pound

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