Albright's Hereditary Osteodystrophy
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. [ ]
Term info
Albright's Hereditary Osteodystrophy
- Albright Hereditary Osteodystrophy
- Albright's Hereditary Osteodystrophy
- Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance
- PHP1A
- Pseudohypoparathyroidism, Type IA
NCIT_C90259, NCIT_C118467
Generalized osteodystrophy associated with heterozygous inactivating mutation(s) in the GNAS gene encoding guanine nucleotide-binding protein, alpha-stimulating (Gs-alpha), characterized by short stature, subcutaneous ossification, and skeletal anomalies. If the mutation is on the paternal allele, hormone resistance is absent. If the mutation is on the maternal allele, hormone resistance is present.
NICHD
http://purl.obolibrary.org/obo/NCIT_C3101
Albright Hereditary Osteodystrophy
Albright's Hereditary Osteodystrophy
Disease or Syndrome
C2931404
C118434