Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 hormone (HP:0002930)

Term ID:

2930

Name:

Impaired sensitivity to thyroid hormone

Synonym:

Elevated serum levels of free thyroid hormone with nonsuppressed TSH; End-organ unresponsiveness to thyroid hormone; Resistance to thyroid hormone; Thyroid hormone receptor defect; Thyroid hormone resistance

Definition:

Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.

Comments:

Reference:

HP:0002930

Genes and Diseases:

Child Nodes:

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 stimulating hormone (HP:0011789)

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:0002930	HP:0002930	Impaired sensitivity to thyroid hormone	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0002930	HP:0002930	Impaired sensitivity to thyroid hormone	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.	161
HP:0002930	HP:0002930	Impaired sensitivity to thyroid hormone	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.	161
HP:0002930	HP:0002930	Impaired sensitivity to thyroid hormone	0	THRB CL E G H	7068	11799	OMIM:145650	Thyroid hormone resistance, selective pituitary	.	161

Genes (2) :THRA THRB

Diseases (4) :OMIM:614450 OMIM:188570 OMIM:274300 OMIM:145650

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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