DYSKERATOSIS CONGENITA, X-LINKED

GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA

http://purl.bioontology.org/ontology/OMIM/305000

GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA

CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA

HHS

ZINSSER-COLE-ENGMAN SYNDROME

HOYERAAL-HREIDARSSON SYNDROME

DKCX

C3806774

C1846142

C1148551

Xq28

DKC1

CHINE1

DKCX

http://purl.bioontology.org/ontology/OMIM/MTHU000682

http://purl.bioontology.org/ontology/OMIM/MTHU001744

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU038282

http://purl.bioontology.org/ontology/OMIM/MTHU003459

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

http://purl.bioontology.org/ontology/OMIM/MTHU036374

http://purl.bioontology.org/ontology/OMIM/MTHU002415

http://purl.bioontology.org/ontology/OMIM/MTHU007775

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU076654

http://purl.bioontology.org/ontology/OMIM/MTHU042367

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

http://purl.bioontology.org/ontology/OMIM/MTHU007785

http://purl.bioontology.org/ontology/OMIM/MTHU036837

http://purl.bioontology.org/ontology/OMIM/MTHU007777

http://purl.bioontology.org/ontology/OMIM/MTHU007789

http://purl.bioontology.org/ontology/OMIM/MTHU001761

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU016005

http://purl.bioontology.org/ontology/OMIM/MTHU007768

http://purl.bioontology.org/ontology/OMIM/MTHU000365

http://purl.bioontology.org/ontology/OMIM/MTHU002639

http://purl.bioontology.org/ontology/OMIM/MTHU000363

http://purl.bioontology.org/ontology/OMIM/MTHU042371

http://purl.bioontology.org/ontology/OMIM/MTHU007787

http://purl.bioontology.org/ontology/OMIM/MTHU007767

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

http://purl.bioontology.org/ontology/OMIM/MTHU007771

http://purl.bioontology.org/ontology/OMIM/MTHU001684

http://purl.bioontology.org/ontology/OMIM/MTHU036409

http://purl.bioontology.org/ontology/OMIM/MTHU007766

http://purl.bioontology.org/ontology/OMIM/MTHU068148

http://purl.bioontology.org/ontology/OMIM/MTHU007779

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU076364

http://purl.bioontology.org/ontology/OMIM/MTHU037132

http://purl.bioontology.org/ontology/OMIM/MTHU036365

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

http://purl.bioontology.org/ontology/OMIM/MTHU076656

http://purl.bioontology.org/ontology/OMIM/MTHU076657

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

http://purl.bioontology.org/ontology/OMIM/MTHU037338

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU049104

http://purl.bioontology.org/ontology/OMIM/MTHU007778

http://purl.bioontology.org/ontology/OMIM/MTHU007790

http://purl.bioontology.org/ontology/OMIM/MTHU016807

http://purl.bioontology.org/ontology/OMIM/MTHU002944

http://purl.bioontology.org/ontology/OMIM/MTHU007776

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

http://purl.bioontology.org/ontology/OMIM/MTHU004140

http://purl.bioontology.org/ontology/OMIM/MTHU007780

http://purl.bioontology.org/ontology/OMIM/MTHU076655

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU042369

http://purl.bioontology.org/ontology/OMIM/MTHU042368

http://purl.bioontology.org/ontology/OMIM/MTHU017872

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU042370

http://purl.bioontology.org/ontology/OMIM/MTHU007784

http://purl.bioontology.org/ontology/OMIM/MTHU002081

http://purl.bioontology.org/ontology/OMIM/MTHU036911

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

http://purl.bioontology.org/ontology/OMIM/MTHU003979

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU007772

http://purl.bioontology.org/ontology/OMIM/MTHU007769

http://purl.bioontology.org/ontology/OMIM/MTHU007447

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

Phenotype description, molecular basis known.

300240

305000

3

pound

DYSKERATOSIS CONGENITA, X-LINKED

Median age of diagnosis - 15 years [MISCELLANEOUS]

Caused by mutation in the dyskerin gene (DKC1, 300126.0001) [MOLECULAR BASIS]

HHS is a more severe variant, often resulting in death in childhood [MISCELLANEOUS]

Median age of onset of pancytopenia - 10 years (range 1-32 years) [MISCELLANEOUS]

Median age of onset of leukoplakia - 7 years (range 1-26 years) [MISCELLANEOUS]

Median age of onset of pigmentation - 8 years (range 1-15 years) [MISCELLANEOUS]

Median age of onset of nail dystrophy - 7 years (range 1-6 years) [MISCELLANEOUS]

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

T047