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DOID:9521 - Laron syndrome
Disease Ontology 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.
Synonyms: Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect (disorder)
Xenbase Genes
:
ghr
| MONDO:0009877 - metapodium region |
| MIM:262500 - LARON SYNDROME |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)