loading...| Preferred Name |
Pseudohypoparathyroidism |
| ID |
http://www.orpha.net/ORDO/Orphanet_97593 |
| definition |
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 |
| has_age_of_onset |
All ages |
| has_inheritance |
Not applicable Autosomal dominant |
| hasDbXref |
MeSH:D011547 UMLS:C0033806 ICD-11:5A50.1 ICD-10:E20.1 MedDRA:10037126 |
| label |
Pseudohypoparathyroidism |
| notation |
Category ORPHA:97593 |
| prefixIRI |
ORDO:Orphanet_97593 |
| prefLabel |
Pseudohypoparathyroidism |
| present_in |
Italy AND has_point_prevalence_average_value : 0.67 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.34 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_93603 http://www.orpha.net/ORDO/Orphanet_139009 http://www.orpha.net/ORDO/Orphanet_183592 http://www.orpha.net/ORDO/Orphanet_208593 |