Laron Syndrome D046150

Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Dwarfism » Laron Syndrome

Diseases [C] » Endocrine System Diseases [C19] » Dwarfism » Laron Syndrome

Description

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.   MeSH

Organization Involved with Phase 3 Indications (3)

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UMLS Data


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