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 carcinoma (HP:0002890)

..Starting node
..Papillary thyroid carcinoma (HP:0002895)

Term ID:

2895

Name:

Papillary thyroid carcinoma

Synonym:

Papillary carcinoma of thyroid; Thyroid papillary carcinoma

Definition:

The presence of a papillary adenocarcinoma of the thyroid gland.

Comments:

Reference:

HP:0002895

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anaplastic thyroid carcinoma (HP:0011779)

Follicular thyroid carcinoma (HP:0006731)

Medullary thyroid carcinoma (HP:0002865)

Non-medullary thyroid carcinoma (HP:0040198)

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:0002895	HP:0002895	Papillary thyroid carcinoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	88
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	219
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	25
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1	.	51
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	617
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	87
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	1
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	47
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	14
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002895	HP:0002895	Papillary thyroid carcinoma	0	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3

Genes (24) :APC ARID1A ARID1B ARID2 DICER1 DPF2 FOXE1 HABP2 HRAS JAG1 MINPP1 NKX2-1 NRAS PDE11A PRKAR1A SEC23B SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SRGAP1

Diseases (13) :OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:1465 OMIM:138800 ORPHA:319487 OMIM:616534 OMIM:188470 OMIM:118450 OMIM:188550 ORPHA:1359 OMIM:616858

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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