Disease #02083 (SMEDSL (dysplasia, spondylometaepiphyseal, short limb-hand type), OMIM:271665)

Official abbreviation	SMEDSL
Name	dysplasia, spondylometaepiphyseal, short limb-hand type
OMIM ID	271665
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	DDR2
Associated tissues	-
Disease features	-
Remarks	autosomal recessive
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-11 13:56:28 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.

Global Variome shared LOVD