Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the pituitary gland (HP:0012503)help
Parent Node:
expandAbnormality of the anterior pituitary (HP:0011747)help
..Starting node
..expandPituitary resistance to thyroid hormone (HP:0008227)help
Term ID: 8227
Name: Pituitary resistance to thyroid hormone
Synonym:
Definition: A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.
Comments:
Reference: HP:0008227
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnterior pituitary dysgenesis (HP:0010625) help
..expandEctopic anterior pituitary gland (HP:0012731) help
..expandHyperpituitarism (HP:0010514) help
..expandHypopituitarism (HP:0040075) help
..expandNeoplasm of the anterior pituitary (HP:0011750) help
..expandPituitary calcification (HP:0010513) 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:0008227HP:0008227Pituitary resistance to thyroid hormone0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040281 - Very frequent101
HP:0008227HP:0008227Pituitary resistance to thyroid hormone0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare101
HP:0008227HP:0008227Pituitary resistance to thyroid hormone0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040281 - Very frequent101
HP:0008227HP:0008227Pituitary resistance to thyroid hormone0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare86


Genes (2) :GNAS STX16

Diseases (3) :ORPHA:79443 ORPHA:94089 ORPHA:79444
 

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