Disease #02756 (SEDK (dysplasia, spondyloepiphyseal, Kimberley type (SEDK)), OMIM:608361)

Official abbreviation SEDK
Name dysplasia, spondyloepiphyseal, Kimberley type (SEDK)
OMIM ID 608361
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene ACAN
Associated tissues -
Disease features -
Remarks autosomal dominant
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00375198 - - 4-generation family, 6 affected (3M, 3F). F no China Chinese - - - - SEDK Short stature ACAN ACAN 1 6 Xiuli Zhao
00375199 - - 5-generation family, 9 affected (6M, 3F) M no China Chinese - - - - SEDK Short stature. ACAN ACAN 1 9 Xiuli Zhao
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.