loading...| Preferred Name |
Dyskeratosis Congenita [Disease/Finding] |
|
| Synonyms |
Dyskeratosis Congenita |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003963 |
|
| altLabel |
Dyskeratosis Congenita |
|
| cui |
C0265965 |
|
| MESH DEFINITION |
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. |
|
| MESH DUI |
D019871 |
|
| MeSH name |
Dyskeratosis Congenita |
|
| MESH UI |
M0029508 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003963 |
|
| NUI |
N0000003963 |
|
| prefLabel |
Dyskeratosis Congenita [Disease/Finding] |
|
| SNOMED CID |
74911008 |
|
| tui |
T047 |
|
| subClassOf |