pseudohypoparathyroidism

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Information
Disease name
pseudohypoparathyroidism
Disease ID
DOID:4184
Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00004661 Completed Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism May 1993
NCT00001242 Completed Studies of States With Resistance to Vitamin D and Parathyroid Hormone August 12, 1997 December 12, 2022
NCT02411461 Completed Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism December 1, 2014 January 2017
NCT04240821 Enrolling by invitation Phase 2 Theophylline for Treatment of Pseudohypoparathyroidism May 22, 2020 June 30, 2026
NCT05945576 Recruiting IDMet (RaDiCo Cohort) (RaDiCo-IDMet) March 10, 2017 March 10, 2032
NCT03029429 Recruiting Phase 2 Theophylline Treatment for Pseudohypoparathyroidism September 1, 2018 November 1, 2026
NCT04551170 Recruiting Phase 2 Theophylline Treatment for Pseudohypoparathyroidism - Children 2-12 Years Old July 13, 2020 June 30, 2026
NCT04969926 Recruiting Natural History Study of Parathyroid Disorders November 30, 2021 January 22, 2031
NCT02551120 Unknown status Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism June 2014 August 2020
NCT00497484 Unknown status N/A Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)
Disase is a (Disease Ontology)
DOID:896
Cross Reference ID (Disease Ontology)
GARD:10758
Cross Reference ID (Disease Ontology)
ICD10CM:E20.1
Cross Reference ID (Disease Ontology)
MESH:D011547
Cross Reference ID (Disease Ontology)
MIM:612462
Cross Reference ID (Disease Ontology)
NCI:C99027
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:190867002
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0033806
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0000852
OrphaNumber from OrphaNet (Orphanet)
97593
ICD10 preferred id (Insert disease from ICD10)
D0003678
ICD10 class code (Insert disease from ICD10)
E20.1
MeSH unique ID (MeSH (Medical Subject Headings))
D011547