ONTOLOGY REPORT - ANNOTATIONS


Term:Laron syndrome
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Accession:DOID:9521 term browser browse the term
Definition:An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.
Synonyms:exact_synonym: Growth Hormone Insensitivity Syndrome;   Growth Hormone Receptor Defect;   Growth Hormone Receptor Deficiency;   Laron Dwarfism;   Laron Type Dwarfism I;   Laron-type isolated somatotropin defect;   Pituitary Dwarfism II;   Pituitary Dwarfism IIs;   Primary GH Resistance;   Primary Growth Hormone Resistance;   Severe GH Insensitivity
 narrow_synonym: LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN;   Laron syndrome with elevated serum GH-binding protein
 primary_id: MESH:D046150;   RDO:0003783
 alt_id: OMIM:262500
 xref: GARD:6859
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Laron syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:7240710
RGD:8554872
RGD:11567215
RGD:11565835
RGD:11565834
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549489
Laron Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stat5b signal transducer and activator of transcription 5B JBrowse link 10 88,686,207 88,712,313 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Laron syndrome 3
        Laron Syndrome Type 2 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                Laron syndrome 3
                  Laron Syndrome Type 2 1
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