Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
Synonyms

DKCA1
ID

http://purl.bioontology.org/ontology/OMIM/127550
altLabel

DKCA1

DYSKERATOSIS CONGENITA, SCOGGINS TYPE
cui

C1851970
Gene Locus

3q21-q28
Gene Symbol

DKCA1

TERC

PFBMFT2

TR

TRC3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU018561

http://purl.bioontology.org/ontology/OMIM/MTHU018555

http://purl.bioontology.org/ontology/OMIM/MTHU030792

http://purl.bioontology.org/ontology/OMIM/MTHU018553

http://purl.bioontology.org/ontology/OMIM/MTHU018551

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU024246

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU002045

http://purl.bioontology.org/ontology/OMIM/MTHU036685

http://purl.bioontology.org/ontology/OMIM/MTHU007418

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU007774

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU018554

http://purl.bioontology.org/ontology/OMIM/MTHU018552

http://purl.bioontology.org/ontology/OMIM/MTHU018550

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU030793

http://purl.bioontology.org/ontology/OMIM/MTHU018556

http://purl.bioontology.org/ontology/OMIM/MTHU018562

http://purl.bioontology.org/ontology/OMIM/MTHU013333

http://purl.bioontology.org/ontology/OMIM/MTHU036684

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU000437

http://purl.bioontology.org/ontology/OMIM/MTHU026964

http://purl.bioontology.org/ontology/OMIM/MTHU036682

http://purl.bioontology.org/ontology/OMIM/MTHU007419

http://purl.bioontology.org/ontology/OMIM/MTHU007791

http://purl.bioontology.org/ontology/OMIM/MTHU009662

http://purl.bioontology.org/ontology/OMIM/MTHU006263
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

127550
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
tui

T047
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http://purl.bioontology.org/ontology/MESH/C565079 Medical Subject Headings CUI