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:
Abnormality of the lymph nodes (HP:0002733)

Parent Node:
Lymphadenopathy (HP:0002716)

..Starting node
..Generalized lymphadenopathy (HP:0008940)

Term ID:

8940

Name:

Generalized lymphadenopathy

Synonym:

Generalised lymphadenopathy; Generalised swelling of lymph nodes; Generalized swelling of lymph nodes; Swollen lymph nodes affecting all regions of the body

Definition:

A generalized form of lymphadenopathy.

Comments:

Reference:

HP:0008940

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical lymphadenopathy (HP:0025289)

Chronic noninfectious lymphadenopathy (HP:0002730)

Follicular hyperplasia (HP:0002729)

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:0008940	HP:0008940	Generalized lymphadenopathy	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	IFNGR1 CL E G H	3459	5439	OMIM:615978	Immunodeficiency 27B		60
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0008940	HP:0008940	Generalized lymphadenopathy	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7

Genes (8) :DCLRE1C HLA-DRB1 IFIH1 IFNGR1 LRBA PRKCD RAC2 RNF168

Diseases (8) :OMIM:602450 OMIM:181000 OMIM:615846 OMIM:615978 OMIM:614700 OMIM:615559 OMIM:618986 ORPHA:420741

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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