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:
CSF pleocytosis (HP:0012229)

Parent Node:
CSF lymphocytic pleiocytosis (HP:0200149)

..Starting node
..Chronic CSF lymphocytosis (HP:0009704)

Term ID:

9704

Name:

Chronic CSF lymphocytosis

Synonym:

Chronic cerebrospinal fluid lymphocytosis

Definition:

Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.

Comments:

Reference:

HP:0009704

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:0009704	HP:0009704	Chronic CSF lymphocytosis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0009704	HP:0009704	Chronic CSF lymphocytosis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56

Genes (9) :ADAR IFIH1 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1

Diseases (3) :ORPHA:51 OMIM:610181 OMIM:225750

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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