Terminology Service for NFDI4Health

Albright's Hereditary Osteodystrophy

Go to external page http://purl.obolibrary.org/obo/NCIT_C118434


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

Label

Albright's Hereditary Osteodystrophy

Synonyms
  • Albright Hereditary Osteodystrophy
  • Albright's Hereditary Osteodystrophy
  • Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance
  • PHP1A
  • Pseudohypoparathyroidism, Type IA
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

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.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

NICHD Hierarchy Term

Albright Hereditary Osteodystrophy

Preferred Name

Albright's Hereditary Osteodystrophy

Semantic Type

Disease or Syndrome

UMLS CUI

C2931404

code

C118434