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 thyroid physiology (HP:0002926)

Parent Node:
Hyperthyroidism (HP:0000836)

..Starting node
..Thyrotoxicosis with diffuse goiter (HP:0011784)

Term ID:

11784

Name:

Thyrotoxicosis with diffuse goiter

Synonym:

Thyrotoxicosis with diffuse goitre

Definition:

Comments:

Reference:

HP:0011784

Genes and Diseases:

Child Nodes:

........

Graves disease (HP:0100647)

Sister Nodes:

Thyroid crisis (HP:0011782)

Thyrotoxicosis from ectopic thyroid tissue (HP:0011783)

Thyrotoxicosis with toxic multinodular goiter (HP:0011785)

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:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0011784	HP:0011784	Thyrotoxicosis with diffuse goiter	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0011784	HP:0100647	Graves disease	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0011784	HP:0100647	Graves disease	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0011784	HP:0100647	Graves disease	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0011784	HP:0100647	Graves disease	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0011784	HP:0100647	Graves disease	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145

Genes (6) :CACNA1S CLCNKB GABRA3 KCNJ18 SLC12A3 TSHR

Diseases (4) :ORPHA:79102 ORPHA:358 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.

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