loading...| Preferred Name |
Jacobsen syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2308 |
| alternative_term |
Del(11)(qter) Monosomy 11qter Telomeric deletion 11q Distal monosomy 11q Del(11)(q23.3) 11q terminal deletion syndrome Distal deletion 11q |
| definition |
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 |
| has_age_of_onset |
Antenatal |
| has_inheritance |
Unknown Not applicable |
| hasDbXref |
OMIM:147791 ICD-10:Q93.5 MeSH:D054868 UMLS:C0795841 ICD-11:LD44.B0 |
| label |
Jacobsen syndrome |
| notation |
ORPHA:2308 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_477794 |
| prefixIRI |
ORDO:Orphanet_2308 |
| prefLabel |
Jacobsen syndrome |
| present_in |
United States AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
| treeView |
http://www.orpha.net/ORDO/Orphanet_477794 |
| subClassOf |