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:
Hyperthyroidism (HP:0000836)

..Starting node
..Thyrotoxicosis with toxic multinodular goiter (HP:0011785)

Term ID:

11785

Name:

Thyrotoxicosis with toxic multinodular goiter

Synonym:

Thyrotoxicosis with toxic multinodular goitre

Definition:

Comments:

Reference:

HP:0011785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thyroid crisis (HP:0011782)

Thyrotoxicosis from ectopic thyroid tissue (HP:0011783)

Thyrotoxicosis with diffuse goiter (HP:0011784)

Thyrotoxicosis with toxic single thyroid nodule (HP:0011786)

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:0011785	HP:0011785	Thyrotoxicosis with toxic multinodular goiter	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0011785	HP:0011785	Thyrotoxicosis with toxic multinodular goiter	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0011785	HP:0011785	Thyrotoxicosis with toxic multinodular goiter	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10

Genes (3) :CACNA1S GABRA3 KCNJ18

Diseases (1) :ORPHA:79102

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