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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Laron syndrome
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Accession:DOID:9521 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Growth Hormone Receptor Defect;   Growth Hormone Receptor Deficiency;   Laron Dwarfism;   Laron Type Dwarfism I;   Laron-type isolated somatotropin defect;   Pituitary Dwarfism II;   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
 alt_id: OMIM:262500
 xref: GARD:6859;   ICD10CM:E34.3;   NCI:C130994;   ORDO:633
For additional species annotation, visit the Alliance of Genome Resources.


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Laron syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Laron-type isolated somatotropin defect
ClinVar Annotator: match by term: Laron Syndrome
ClinVar Annotator: match by OMIM:262500
DNA:nonsense, missense, deletion mutations:cds, splice junction:
DNA:deletion:exon,intron:
ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein
ClinVar Annotator: match by term: Laron syndrome with elevated serum gh-binding protein
OMIM
ClinVar
PMID:1284474 PMID:1719554 PMID:1999489 PMID:2233903 PMID:2779634 More... RGD:11567215, RGD:11565835, RGD:11565834 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:21054577 RGD:8549489 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Laron syndrome 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal recessive disease 3443
                Laron syndrome 2
paths to the root