| Metadata | |
|---|---|
| ID | DOID:0080053 |
| Name | pseudohypoparathyroidism type 1A |
| 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. http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Albright hereditary osteodystrophy [EXACT] Albright's hereditary osteodystrophy [EXACT] PHP Ia [EXACT] |
| Parent Relationships |