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pseudohypoparathyroidism type 1A (DOID:0080053)
Alliance: disease page
Synonyms: Albright hereditary osteodystrophy; Albright's hereditary osteodystrophy; PHP Ia
Alt IDs: OMIM:103580, ORDO:79443
Definition: A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.

Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory