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 thyroid physiology (HP:0002926)

Parent Node:
Impaired sensitivity to thyroid stimulating hormone (HP:0011789)

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

Term ID:

11790

Name:

Activating thyroid-stimulating hormone receptor defect

Synonym:

Activating TSHR defect

Definition:

Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.

Comments:

Reference:

HP:0011790

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0011790	HP:0011790	Activating thyroid-stimulating hormone receptor defect	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040280 - Obligate	97
HP:0011790	HP:0011790	Activating thyroid-stimulating hormone receptor defect	0	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 (2) :ORPHA:99819 ORPHA:424

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