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C129722Level 7

Albright Hereditary Osteodystrophy without Multiple Hormone Resistance

**Semantic type:** Disease or Syndrome

**Definition:** A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance.

**Synonyms:** - Albright Hereditary Osteodystrophy with Multiple Hormone Resistance - PPHP - Pseudopseudohypoparathyroidism

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