RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
Albright hereditary osteodystrophy; Albright hereditary osteodystrophy with multiple hormone resistance; PHP IA; PHP1A; pseudohypoparathyroidism type 1A; pseudohypoparathyroidism, type IA
narrow_synonym:
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
DNA:splice-site mutation DNA:deletions:exon:multiple OMIM:103580 ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A