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:
Abnormal thyroid morphology (HP:0011772)

Parent Node:
Goiter (HP:0000853)

..Starting node
..Euthyroid goiter (HP:0009798)

Term ID:

9798

Name:

Euthyroid goiter

Synonym:

Euthyroid goitre

Definition:

A goiter that is not associated with functional thyroid abnormalities.

Comments:

Reference:

HP:0009798

Genes and Diseases:

Child Nodes:

........

Euthyroid multinodular goiter (HP:0000866)

Sister Nodes:

Congenital goiter (HP:0008251)

Nodular goiter (HP:0005994)

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:0009798	HP:0009798	Euthyroid goiter	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0009798	HP:0009798	Euthyroid goiter	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0009798	HP:0009798	Euthyroid goiter	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0009798	HP:0009798	Euthyroid goiter	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0009798	HP:0009798	Euthyroid goiter	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0009798	HP:0000866	Euthyroid multinodular goiter	1	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0009798	HP:0000866	Euthyroid multinodular goiter	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0009798	HP:0000866	Euthyroid multinodular goiter	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134

Genes (5) :DICER1 EYA1 PDE11A PRKAR1A SIX1

Diseases (3) :OMIM:138800 OMIM:113650 ORPHA:1359

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