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:
Increased inflammatory response (HP:0012649)

Grandparent Node:
Unusual CNS infection (HP:0011450)

Parent Node:
Meningitis (HP:0001287)

..Starting node
..Chronic lymphocytic meningitis (HP:0007041)

Term ID:

7041

Name:

Chronic lymphocytic meningitis

Synonym:

Definition:

Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).

Comments:

Reference:

HP:0007041

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007041	HP:0007041	Chronic lymphocytic meningitis	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0007041	HP:0007041	Chronic lymphocytic meningitis	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0007041	HP:0007041	Chronic lymphocytic meningitis	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0007041	HP:0007041	Chronic lymphocytic meningitis	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0007041	HP:0007041	Chronic lymphocytic meningitis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71

Genes (5) :CIITA RFX5 RFXANK RFXAP SLC35C1

Diseases (2) :OMIM:209920 ORPHA:99843

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