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:
Abnormal CSF protein concentration (HP:0025456)

..Starting node
..Decreased CSF protein concentration (HP:0025457)

Term ID:

25457

Name:

Decreased CSF protein concentration

Synonym:

Decreased cerebrospinal fluid total protein; Decreased CSF protein; Hypoproteinorrhachia; Low CSF total protein

Definition:

CSF total protein level is below the lower limit of normal.

Comments:

Reference:

HP:0025457

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF amyloid concentration (HP:0030860)

Decreased CSF albumin concentration (HP:0025458)

Increased CSF protein concentration (HP:0002922)

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:0025457	HP:0025457	Decreased CSF protein concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32

Genes (1) :NGLY1

Diseases (1) :ORPHA:404454

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