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:
Neoplasm of the thyroid gland (HP:0100031)

Parent Node:
Thyroid adenoma (HP:0000854)

..Starting node
..Hurthle cell thyroid adenoma (HP:0006781)

Term ID:

6781

Name:

Hurthle cell thyroid adenoma

Synonym:

Definition:

A kind of thyroid adenoma characterized by the presence of oxyphil cells.

Comments:

Reference:

HP:0006781

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thyroid atypical adenoma (HP:0011778)

Thyroid follicular adenoma (HP:0011774)

Thyroid papillary adenoma (HP:0011777)

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:0006781	HP:0006781	Hurthle cell thyroid adenoma	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169

Genes (1) :CDC73

Diseases (1) :OMIM:145001

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