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Disease Ontology Browser
pseudopseudohypoparathyroidism (DOID:4183)
Alliance: disease page
Synonyms: Normocalcemic pseudohypoparathyroidism; PPHP
Alt IDs: OMIM:612463, MESH:D011556, NCI:C129722, UMLS_CUI:C0033835
Definition: A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.

Disease References using Mouse Models (1)
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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12/17/2024
MGI 6.24 		The Jackson Laboratory