Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the lymph nodes (HP:0002733)

Parent Node:
Lymphadenopathy (HP:0002716)

..Starting node
..Cervical lymphadenopathy (HP:0025289)

Term ID:

25289

Name:

Cervical lymphadenopathy

Synonym:

Swollen lymph nodes in the neck

Definition:

Enlarged lymph nodes in the neck.

Comments:

Reference:

HP:0025289

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic noninfectious lymphadenopathy (HP:0002730)

Follicular hyperplasia (HP:0002729)

Generalized lymphadenopathy (HP:0008940)

Mediastinal lymphadenopathy (HP:0100721)

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:0025289	HP:0025289	Cervical lymphadenopathy	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0025289	HP:0025289	Cervical lymphadenopathy	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131

Genes (8) :ARPC1B DEF6 ELANE HMOX1 RAC2 RASGRP1 SLC29A3 TNFRSF1A

Diseases (8) :OMIM:617718 OMIM:619573 ORPHA:2686 OMIM:614034 OMIM:618987 OMIM:618534 OMIM:602782 OMIM:142680

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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