Preferred Name |
Dyskeratosis congenita |
|
Synonyms |
DKC Síndrome de Zinsser-Cole-Engman DQC Zinsser-Engman-Cole syndrome |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_477 |
|
ageOfOnset |
Kindesalter Infanzia Childhood Infância Infancia Childhood Enfance |
|
altLabel |
DKC Síndrome de Zinsser-Cole-Engman DQC Zinsser-Engman-Cole syndrome DKC Syndrome de Zinsser-Engman-Cole DKC DKC Sindrome di Zinsser-Engman-Cole DKC |
|
id_MedDRA |
10062759 |
|
id_Medline | ||
id_MeSH |
D019871 |
|
id_MIM |
127550 224230 305000 613987 613988 613989 613990 615190 |
|
id_OMS |
Q82.8 |
|
id_Orpha |
1775 |
|
id_SNOMEDCT |
74911008 |
|
id_UMLS |
C0265965 |
|
inheritance |
X-linked recessive Autosómico recesivo Recesivo ligado al X Autosomal recessive Ligado ao X recessivo Recessiva legata all'X Autosomal dominant Autosomique dominant X-linked recessive Autossómica recessiva Autosomica recessiva Autosomal dominant Autosomica dominante Récessif lié à l'X Autosomal recessive Autosómico dominate Autosomal-dominant Autosomique récessif Autossómica dominante Autosomal-rezessiv X-chromosomal-rezessiv |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_477 |
|
prefLabel |
Dyskeratosis congenita Disqueratosis congénita Dyskeratosis congenita Disqueratose congénita Dyskératose congénitale Discheratosi congenita |
|
prevalence |
1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 |
|
subClassOf |