Laron syndrome

Summary
Synonym
  • Laron-type isolated somatotropin defect
Definition
A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:9521
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 131 - 136 of 136 in total
Gene ID Gene Symbol Description Source
91949 COG7 component of oligomeric golgi complex 7
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
126792 B3GALT6 beta-1,3-galactosyltransferase 6
159371 SLC35G1 solute carrier family 35 member G1
204219 CERS3 ceramide synthase 3
285362 SUMF1 sulfatase modifying factor 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024