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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal cerebrospinal fluid morphology (HP:0002921)

..Starting node
..CSF pleocytosis (HP:0012229)

Term ID:

12229

Name:

CSF pleocytosis

Synonym:

Cerebrospinal fluid pleocytosis; Increased leukocyte count in CSF

Definition:

An increased white blood cell count in the cerebrospinal fluid.

Comments:

Reference:

HP:0012229

Genes and Diseases:

Child Nodes:

........

CSF polymorphonuclear pleocytosis (HP:0012756)

........

CSF lymphocytic pleiocytosis (HP:0200149)

................... HP:0009704 Chronic CSF lymphocytosis

Sister Nodes:

Abnormal CSF metabolite concentration (HP:0025454)

Abnormal CSF protein concentration (HP:0025456)

Abnormal CSF/serum albumin ratio (HP:0030981)

Cerebrospinal fluid rhinorrhoea (HP:0030998)

Extra-axial cerebrospinal fluid accumulation (HP:0012510)

Hydrocephalus (HP:0000238)

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:0012229	HP:0012229	CSF pleocytosis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0012229	HP:0012229	CSF pleocytosis	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0012229	HP:0012229	CSF pleocytosis	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0012229	HP:0012229	CSF pleocytosis	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0012229	HP:0012229	CSF pleocytosis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0012229	HP:0012229	CSF pleocytosis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012229	HP:0012229	CSF pleocytosis	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0012229	HP:0012229	CSF pleocytosis	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0012229	HP:0012229	CSF pleocytosis	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0012229	HP:0012229	CSF pleocytosis	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012229	HP:0012229	CSF pleocytosis	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0012229	HP:0012229	CSF pleocytosis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0012229	HP:0012229	CSF pleocytosis	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0012229	HP:0012229	CSF pleocytosis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0012229	HP:0012229	CSF pleocytosis	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0012229	HP:0012229	CSF pleocytosis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0012229	HP:0012229	CSF pleocytosis	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0012229	HP:0012229	CSF pleocytosis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012229	HP:0012229	CSF pleocytosis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0012229	HP:0012229	CSF pleocytosis	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5		55
HP:0012229	HP:0012229	CSF pleocytosis	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0012229	HP:0012229	CSF pleocytosis	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0012229	HP:0012229	CSF pleocytosis	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0012229	HP:0012229	CSF pleocytosis	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0012229	HP:0012229	CSF pleocytosis	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0012229	HP:0012229	CSF pleocytosis	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0012229	HP:0012229	CSF pleocytosis	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0012229	HP:0012229	CSF pleocytosis	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0012229	HP:0012229	CSF pleocytosis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0012229	HP:0012229	CSF pleocytosis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0012229	HP:0012229	CSF pleocytosis	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0012229	HP:0012229	CSF pleocytosis	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0012229	HP:0012756	CSF polymorphonuclear pleocytosis	1	CL E G H
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	HP:0040283 - Occasional	55
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	20
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	6
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	3
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	2
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	5
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56

Genes (24) :ADAR ATP1A2 CACNA1A IFIH1 LSM11 NOTCH2NLC PRF1 PRRT2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN1A SLC13A3 STX11 STXBP2 TBK1 TICAM1 TLR3 TRAF3 TREX1 UNC13D UNC93B1

Diseases (14) :ORPHA:51 OMIM:615010 ORPHA:569 OMIM:619486 OMIM:603472 ORPHA:540 OMIM:603553 OMIM:610333 OMIM:610181 OMIM:610329 OMIM:612952 OMIM:618384 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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