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:
Abnormal cerebrospinal fluid morphology (HP:0002921)

Parent Node:
CSF pleocytosis (HP:0012229)

..Starting node
..CSF lymphocytic pleiocytosis (HP:0200149)

Term ID:

200149

Name:

CSF lymphocytic pleiocytosis

Synonym:

CSF lymphocytosis

Definition:

An increased lymphocyte count in the cerebrospinal fluid.

Comments:

Reference:

HP:0200149

Genes and Diseases:

Child Nodes:

........

Chronic CSF lymphocytosis (HP:0009704)

Sister Nodes:

CSF polymorphonuclear pleocytosis (HP:0012756)

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:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	HP:0040283 - Occasional	55
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	20
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	6
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	3
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	2
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0200149	HP:0200149	CSF lymphocytic pleiocytosis	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	5
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0200149	HP:0009704	Chronic CSF lymphocytosis	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56

Genes (18) :ADAR ATP1A2 CACNA1A IFIH1 LSM11 PRRT2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN1A TBK1 TICAM1 TLR3 TRAF3 TREX1 UNC93B1

Diseases (8) :ORPHA:51 ORPHA:569 OMIM:610333 OMIM:610181 OMIM:610329 OMIM:612952 ORPHA:1930 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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