| Human Phenotype
Ontology
|
..Starting node
.. Abnormal TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033080)
|
| Term ID: |
33080 |
| Name: |
Abnormal TSH response to thyrotrophin-releasing hormone stimulation test |
| Synonym: |
Abnormal TSH response to TRH stimulation test |
| Definition: |
Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. |
| Comments: |
|
| Reference: |
HP:0033080 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0033080 | HP:0033080 | Abnormal TSH response to thyrotrophin-releasing hormone stimulation test | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | | | HP:0033080 | HP:0033080 | Abnormal TSH response to thyrotrophin-releasing hormone stimulation test | 0 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | | | HP:0033080 | HP:0033080 | Abnormal TSH response to thyrotrophin-releasing hormone stimulation test | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | | | HP:0033080 | HP:0033080 | Abnormal TSH response to thyrotrophin-releasing hormone stimulation test | 0 | TRHR CL E G H | 7201 | 12299 | OMIM:618573 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7 | | | | 2 | | | | HP:0033080 | HP:0033081 | Absent TSH response to thyrotrophin-releasing hormone stimulation test | 1 | CL E G H | | | | | | | | | | | | HP:0033080 | HP:0033082 | Reduced TSH response to thyrotrophin-releasing hormone stimulation test | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | | | HP:0033080 | HP:0033082 | Reduced TSH response to thyrotrophin-releasing hormone stimulation test | 1 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | | | HP:0033080 | HP:0033082 | Reduced TSH response to thyrotrophin-releasing hormone stimulation test | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | | | HP:0033080 | HP:0033082 | Reduced TSH response to thyrotrophin-releasing hormone stimulation test | 1 | TRHR CL E G H | 7201 | 12299 | OMIM:618573 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7 | | | | 2 | | |
Genes (4) :CPE IGSF1 POU1F1 TRHR
Diseases (4) :OMIM:619326 OMIM:300888 OMIM:613038 OMIM:618573 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
|
|
