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
External Links
Disease Ontology
DOID:0080053
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
427 ASAH1 N-acylsphingosine amidohydrolase 1
2817 GPC1 glypican 1
Related Glycoprotein

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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: August 19, 2024