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:
Goiter (HP:0000853)

Parent Node:
Euthyroid goiter (HP:0009798)

..Starting node
..Euthyroid multinodular goiter (HP:0000866)

Term ID:

866

Name:

Euthyroid multinodular goiter

Synonym:

Euthyroid multinodular goitre

Definition:

Comments:

Reference:

HP:0000866

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000866	HP:0000866	Euthyroid multinodular goiter	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0000866	HP:0000866	Euthyroid multinodular goiter	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000866	HP:0000866	Euthyroid multinodular goiter	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134

Genes (3) :DICER1 PDE11A PRKAR1A

Diseases (2) :OMIM:138800 ORPHA:1359

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