C118434Level 6
Albright's Hereditary Osteodystrophy
**Semantic type:** Disease or Syndrome
**Definition:** A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism.
**Synonyms:** - Albright Hereditary Osteodystrophy - Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance - PHP1A - Pseudohypoparathyroidism, Type IA
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