Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082)

Term ID:

33082

Name:

Reduced TSH response to thyrotrophin-releasing hormone stimulation test

Synonym:

Definition:

A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.

Comments:

Reference:

HP:0033082

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033082	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0033082	HP:0033082	Reduced 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:0033082	HP:0033082	Reduced 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:0033082	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	0	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.