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)

Grandparent Node:
Neoplasm of the endocrine system (HP:0100568)

Parent Node:
Neoplasm of the thyroid gland (HP:0100031)

..Starting node
..Thyroid adenoma (HP:0000854)

Term ID:

854

Name:

Thyroid adenoma

Synonym:

Definition:

The presence of a adenoma of the thyroid gland.

Comments:

Reference:

HP:0000854

Genes and Diseases:

Child Nodes:

........

Hurthle cell thyroid adenoma (HP:0006781)

........

Thyroid follicular adenoma (HP:0011774)

................... HP:0011775 Thyroid macrofollicular adenoma
................... HP:0011776 Thyroid microfollicular adenoma

........

Thyroid papillary adenoma (HP:0011777)

........

Thyroid atypical adenoma (HP:0011778)

Sister Nodes:

Thyroid carcinoma (HP:0002890)

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:0000854	HP:0000854	Thyroid adenoma	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0000854	HP:0000854	Thyroid adenoma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0000854	HP:0000854	Thyroid adenoma	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0000854	HP:0000854	Thyroid adenoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0000854	HP:0000854	Thyroid adenoma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0000854	HP:0000854	Thyroid adenoma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0000854	HP:0000854	Thyroid adenoma	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0000854	HP:0000854	Thyroid adenoma	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.	5
HP:0000854	HP:0000854	Thyroid adenoma	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0000854	HP:0000854	Thyroid adenoma	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0000854	HP:0000854	Thyroid adenoma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0000854	HP:0000854	Thyroid adenoma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0000854	HP:0000854	Thyroid adenoma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0000854	HP:0011777	Thyroid papillary adenoma	1	CL E G H
HP:0000854	HP:0011774	Thyroid follicular adenoma	1	CL E G H
HP:0000854	HP:0011778	Thyroid atypical adenoma	1	CL E G H
HP:0000854	HP:0006781	Hurthle cell thyroid adenoma	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0000854	HP:0011776	Thyroid microfollicular adenoma	2	CL E G H
HP:0000854	HP:0011775	Thyroid macrofollicular adenoma	2	CL E G H

Genes (12) :AKT1 CASP10 CDC73 CDKN1B FAS FASLG MEN1 MSH3 PIK3CA PRKCD PTEN RASGRP1

Diseases (9) :OMIM:615109 ORPHA:3261 OMIM:145001 ORPHA:276152 OMIM:131100 OMIM:617100 ORPHA:480536 OMIM:615108 OMIM:158350

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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