DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1

DKCB1

http://purl.bioontology.org/ontology/OMIM/224230

DKCB1

C1857144

15q14-q15

NOLA3

NOP10

DKCB1

http://purl.bioontology.org/ontology/OMIM/MTHU067594

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

http://purl.bioontology.org/ontology/OMIM/MTHU007786

http://purl.bioontology.org/ontology/OMIM/MTHU031965

http://purl.bioontology.org/ontology/OMIM/MTHU031959

http://purl.bioontology.org/ontology/OMIM/MTHU041875

http://purl.bioontology.org/ontology/OMIM/MTHU031969

http://purl.bioontology.org/ontology/OMIM/MTHU031967

http://purl.bioontology.org/ontology/OMIM/MTHU003747

http://purl.bioontology.org/ontology/OMIM/MTHU031960

http://purl.bioontology.org/ontology/OMIM/MTHU031975

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU031962

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

http://purl.bioontology.org/ontology/OMIM/MTHU013335

http://purl.bioontology.org/ontology/OMIM/MTHU067593

http://purl.bioontology.org/ontology/OMIM/MTHU022143

http://purl.bioontology.org/ontology/OMIM/MTHU031958

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

http://purl.bioontology.org/ontology/OMIM/MTHU041876

http://purl.bioontology.org/ontology/OMIM/MTHU041874

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

http://purl.bioontology.org/ontology/OMIM/MTHU031968

http://purl.bioontology.org/ontology/OMIM/MTHU031964

http://purl.bioontology.org/ontology/OMIM/MTHU031963

http://purl.bioontology.org/ontology/OMIM/MTHU031976

http://purl.bioontology.org/ontology/OMIM/MTHU031961

Phenotype description, molecular basis known.

224230

3

pound

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1

Mutation in NOLA3 found in 1 consanguineous Saudi family (as of May 2011) [MISCELLANEOUS]

Median age of diagnosis - 15 years [MISCELLANEOUS]

Caused by mutation in the NOP10 ribonucleoprotein gene (NOP10, 606471.0001) [MOLECULAR BASIS]

Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia [MISCELLANEOUS]

Highly variable phenotype [MISCELLANEOUS]

T047