Human Phenotype Ontology 
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Abnormal circulating free T3 concentration (HP:0032209)help
Term ID: 32209
Name: Abnormal circulating free T3 concentration
Synonym: Abnormal circulating free T3 level; Abnormal circulating free triiodotyronine concentration
Definition: A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.
Comments:
Reference: HP:0032209
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032209HP:0032209Abnormal circulating free T3 concentration0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0032209HP:0032209Abnormal circulating free T3 concentration0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0032209HP:0032209Abnormal circulating free T3 concentration0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0032209HP:0032209Abnormal circulating free T3 concentration0SECISBP2 CL E G H7904830972OMIM:609698Thyroid hormone metabolism, abnormal3
HP:0032209HP:0032209Abnormal circulating free T3 concentration0THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant161
HP:0032209HP:0032209Abnormal circulating free T3 concentration0TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome2
HP:0032209HP:0032210Decreased circulating free T31MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0032209HP:0032210Decreased circulating free T31POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0032209HP:0032210Decreased circulating free T31SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0032209HP:0032210Decreased circulating free T31SECISBP2 CL E G H7904830972OMIM:609698Thyroid hormone metabolism, abnormal3
HP:0032209HP:0011788Increased circulating free T31THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant.161
HP:0032209HP:0032210Decreased circulating free T31TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndromeHP:0040282 - Frequent2


Genes (5) :MADD POU1F1 SECISBP2 THRB TRHR

Diseases (6) :OMIM:619004 OMIM:613038 ORPHA:171706 OMIM:609698 OMIM:188570 ORPHA:99832
 

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