Disease #03194 (SEMDAG (dysplasia, spondyloepimetaphyseal, Aggrecan type (SEMDAG)), OMIM:612813)

Official abbreviation SEMDAG
Name dysplasia, spondyloepimetaphyseal, Aggrecan type (SEMDAG)
OMIM ID 612813
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ACAN
Associated tissues -
Disease features -
Remarks autosomal recessive
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
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     
00375200 - - 3-generation family, 1 affected, unaffected heterozygous carrier parents and grandparents. F no China Chinese - - - - SEMDAG Short stature ACAN ACAN 1 1 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.