Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the parathyroid gland (HP:0000828)help
Parent Node:
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Abnormality of the parathyroid physiology (HP:0011767)help
..Starting node
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Pseudohypoparathyroidism (HP:0000852)help
Term ID: 852
Name: Pseudohypoparathyroidism
Synonym:
Definition: A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.
Comments:
Reference: HP:0000852
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperparathyroidism (HP:0000843) help
..expandHypoparathyroidism (HP:0000829) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040280 - Obligate101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040280 - Obligate101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040280 - Obligate101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392OMIM:603233Pseudohypoparathyroidism, type IB.101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0000852HP:0000852Pseudohypoparathyroidism0GNAS-AS1 CL E G H14977524872OMIM:603233Pseudohypoparathyroidism, type IB.1
HP:0000852HP:0000852Pseudohypoparathyroidism0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040280 - Obligate113
HP:0000852HP:0000852Pseudohypoparathyroidism0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040280 - Obligate134
HP:0000852HP:0000852Pseudohypoparathyroidism0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000852HP:0000852Pseudohypoparathyroidism0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0000852HP:0000852Pseudohypoparathyroidism0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040280 - Obligate86
HP:0000852HP:0000852Pseudohypoparathyroidism0STX16 CL E G H867511431OMIM:603233Pseudohypoparathyroidism, type IB.86


Genes (6) :GNAS GNAS-AS1 PDE4D PRKAR1A PRMT7 STX16

Diseases (10) :ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:612463 ORPHA:280651 OMIM:617157 ORPHA:464288
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.