loading...| Preferred Name |
Dyskeratosis Congenita |
|
| Synonyms |
Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita DKC |
|
| Definitions |
A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C111802 |
|
| code |
C111802 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CCPS CTRP |
|
| DEFINITION |
A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region. |
|
| Display_Name |
Dyskeratosis Congenita |
|
| FULL_SYN |
Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita DKC |
|
| label |
Dyskeratosis Congenita |
|
| Preferred_Name |
Dyskeratosis Congenita |
|
| prefixIRI |
Thesaurus:C111802 |
|
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102959 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18173 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134632 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C152090 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119707 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C152093 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20463 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C152101 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0265965 |
|
| subClassOf |