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:
Abnormality of the cerebrospinal fluid (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 level (HP:0025454)

Abnormal CSF protein level (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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012229	HP:0012229	CSF pleocytosis	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0012229	HP:0200149	CSF lymphocytic pleiocytosis	1	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0012229	HP:0012756	CSF polymorphonuclear pleocytosis	1	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0012229	HP:0009704	Chronic CSF lymphocytosis	2	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (8) :ADAR IFIH1 PRF1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

Diseases (7) :603553 610333 610329 612952 51 610181 225750

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.