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:
Hematological neoplasm (HP:0004377)

Parent Node:
Lymphoma (HP:0002665)

..Starting node
..Hodgkin lymphoma (HP:0012189)

Term ID:

12189

Name:

Hodgkin lymphoma

Synonym:

Hodgkin disease; Hodgkin's lymphoma

Definition:

A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.

Comments:

Reference:

HP:0012189

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastric lymphoma (HP:0045038)

Non-Hodgkin lymphoma (HP:0012539)

Pulmonary lymphoma (HP:0011953)

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:0012189	HP:0012189	Hodgkin lymphoma	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0012189	HP:0012189	Hodgkin lymphoma	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0012189	HP:0012189	Hodgkin lymphoma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0012189	HP:0012189	Hodgkin lymphoma	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0012189	HP:0012189	Hodgkin lymphoma	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012189	HP:0012189	Hodgkin lymphoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0012189	HP:0012189	Hodgkin lymphoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0012189	HP:0012189	Hodgkin lymphoma	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0012189	HP:0012189	Hodgkin lymphoma	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012189	HP:0012189	Hodgkin lymphoma	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0012189	HP:0012189	Hodgkin lymphoma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0012189	HP:0012189	Hodgkin lymphoma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0012189	HP:0012189	Hodgkin lymphoma	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0012189	HP:0012189	Hodgkin lymphoma	0	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin	.	1
HP:0012189	HP:0012189	Hodgkin lymphoma	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0012189	HP:0012189	Hodgkin lymphoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0012189	HP:0012189	Hodgkin lymphoma	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0012189	HP:0012189	Hodgkin lymphoma	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	HP:0040284 - Very rare	1129
HP:0012189	HP:0012189	Hodgkin lymphoma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0012189	HP:0012189	Hodgkin lymphoma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0012189	HP:0012189	Hodgkin lymphoma	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare	5
HP:0012189	HP:0012189	Hodgkin lymphoma	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0012189	HP:0012189	Hodgkin lymphoma	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0012189	HP:0012189	Hodgkin lymphoma	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040284 - Very rare	241
HP:0012189	HP:0012189	Hodgkin lymphoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911

Genes (25) :AAGAB ATM CASP10 CD27 CD70 CDKN2A CHEK2 COL14A1 DEF6 DKC1 FAS FASLG ITK KLHDC8B MAGT1 MDM2 PGM3 POLE PRKCD RASGRP1 RNF43 SOCS1 STAT3 TCF4 TP53

Diseases (17) :ORPHA:79501 OMIM:208900 ORPHA:3261 OMIM:615122 OMIM:618261 ORPHA:524 OMIM:619573 OMIM:305000 OMIM:613011 OMIM:236000 OMIM:300853 OMIM:615816 OMIM:618336 ORPHA:157798 OMIM:619375 OMIM:615952 ORPHA:2896

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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