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:
Abnormal thyroid morphology (HP:0011772)

..Starting node
..Thyroid nodule (HP:0025388)

Term ID:

25388

Name:

Thyroid nodule

Synonym:

Definition:

A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.

Comments:

Reference:

HP:0025388

Genes and Diseases:

Child Nodes:

Sister Nodes:

Goiter (HP:0000853)

Neoplasm of the thyroid gland (HP:0100031)

Thyroglossal cyst (HP:0010518)

Thyroid dysgenesis (HP:0008188)

Thyroid hyperplasia (HP:0008249)

Thyroid lymphangiectasia (HP:0008229)

Thyroiditis (HP:0100646)

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:0025388	HP:0025388	Thyroid nodule	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0025388	HP:0025388	Thyroid nodule	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0025388	HP:0025388	Thyroid nodule	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670

Genes (2) :APC DICER1

Diseases (3) :ORPHA:247806 ORPHA:79665 OMIM:180295

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