Albright's hereditary osteodystrophy

Summary
Synonym
  • Albright hereditary osteodystrophy
  • pseudohypoparathyroidism type 1a
Definition
An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.
Super Class
pseudohypoparathyroidism
Disease Ontology
DOID:0080053
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2778 GNAS GNAS complex locus
5744 PTHLH parathyroid hormone like hormone
Displaying 1 entry
Gene ID Gene Symbol Description Source
14683 Gnas GNAS complex locus

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024