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 thyroid gland (HP:0000820)

Parent Node:
Abnormality of thyroid physiology (HP:0002926)

..Starting node
..Impaired sensitivity to thyroid stimulating hormone (HP:0011789)

Term ID:

11789

Name:

Impaired sensitivity to thyroid stimulating hormone

Synonym:

Thyroid-stimulating hormone receptor defect; TSHR defect

Definition:

Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).

Comments:

Reference:

HP:0011789

Genes and Diseases:

Child Nodes:

........

Activating thyroid-stimulating hormone receptor defect (HP:0011790)

........

Inactivating thyroid-stimulating hormone receptor defect (HP:0011791)

Sister Nodes:

Abnormal circulating thyroid hormone concentration (HP:0031508)

Abnormal radioactive iodine uptake test result (HP:0031221)

Euthyroid hyperthyroxinemia (HP:0008247)

Hyperthyroidism (HP:0000836)

Hypothyroidism (HP:0000821)

Impaired sensitivity to thyroid hormone (HP:0002930)

Positive perchlorate discharge test (HP:0025482)

Thyroid defect in oxidation and organification of iodide (HP:0008263)

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:0011789	HP:0011789	Impaired sensitivity to thyroid stimulating hormone	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism		97
HP:0011789	HP:0011789	Impaired sensitivity to thyroid stimulating hormone	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor		97
HP:0011789	HP:0011789	Impaired sensitivity to thyroid stimulating hormone	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040280 - Obligate	97
HP:0011789	HP:0011791	Inactivating thyroid-stimulating hormone receptor defect	1	CL E G H
HP:0011789	HP:0011790	Activating thyroid-stimulating hormone receptor defect	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040280 - Obligate	97
HP:0011789	HP:0011790	Activating thyroid-stimulating hormone receptor defect	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040280 - Obligate	97

Genes (1) :TSHR

Diseases (3) :ORPHA:99819 ORPHA:424 ORPHA:90673

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