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 lymphatic system (HP:0100763)

Parent Node:
Abnormality of the lymph nodes (HP:0002733)

..Starting node
..Abnormality of mesenteric lymph nodes (HP:0025042)

Term ID:

25042

Name:

Abnormality of mesenteric lymph nodes

Synonym:

Definition:

A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.

Comments:

Reference:

HP:0025042

Genes and Diseases:

Child Nodes:

........

Enlarged mesenteric lymph node (HP:0025043)

Sister Nodes:

Absence of lymph node germinal center (HP:0002849)

Lymph node hypoplasia (HP:0002732)

Lymphadenitis (HP:0002840)

Lymphadenopathy (HP:0002716)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025042	HP:0025042	Abnormality of mesenteric lymph nodes	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR	60
HP:0025042	HP:0025043	Enlarged mesenteric lymph node	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR	60

Genes (1) :IFNGR1

Diseases (1) :OMIM:209950

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.