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
GET
/api/v1/systems/nci_thesaurus/nodes/C129722Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.