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loading...| Preferred Name |
Dyskeratosis Congenita, Autosomal Recessive 5 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176928 |
| code |
C176928 |
| DEFINITION |
Dyskeratosis congenita caused by mutation(s) in the RTEL1 gene, encoding regulator of telomere elongation helicase 1. |
| FULL_SYN |
DKCA4 DKCB5 Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Dominant 4 |
| label |
Dyskeratosis Congenita, Autosomal Recessive 5 |
| Preferred_Name |
Dyskeratosis Congenita, Autosomal Recessive 5 |
| prefixIRI |
Thesaurus:C176928 |
| prefLabel |
Dyskeratosis Congenita, Autosomal Recessive 5 |
| Related_To_Genetic_Biomarker | |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C3554656 |
| subClassOf |
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