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

Grandparent Node:
Abnormality of the pituitary gland (HP:0012503)

Parent Node:
Abnormal thyroid-stimulating hormone level (HP:0031097)

..Starting node
..Decreased thyroid-stimulating hormone level (HP:0031098)

Term ID:

31098

Name:

Decreased thyroid-stimulating hormone level

Synonym:

Decreased plasma TSH; Decreased thyrotropin level

Definition:

Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.

Comments:

Reference:

HP:0031098

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	21
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	51
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	43
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	36
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	54
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0031098	HP:0031098	Decreased thyroid-stimulating hormone level	0	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97

Genes (10) :CPE HESX1 KCNJ18 LHX3 LHX4 OTX2 POU1F1 PROP1 TSHB TSHR

Diseases (7) :OMIM:619326 ORPHA:226307 OMIM:613239 OMIM:613986 OMIM:613038 ORPHA:90674 OMIM:603373

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

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