GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Laron-type Isolated Somatotropin Defect(Laron syndrome)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Endocrine disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 GHR/2690 growth hormone receptor 5p12 Chr5, NC_000005.10
(42423439..42721878)
298440 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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