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 albumin concentration (HP:0025458)

Term ID:

25458

Name:

Decreased CSF albumin concentration

Synonym:

Low CSF albumin

Definition:

CSF albumin level is below the lower limit of normal.

Comments:

Reference:

HP:0025458

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF amyloid concentration (HP:0030860)

Decreased CSF protein concentration (HP:0025457)

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:0025458	HP:0025458	Decreased CSF albumin concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0025458	HP:0025458	Decreased CSF albumin concentration	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32

Genes (1) :NGLY1

Diseases (2) :ORPHA:404454 OMIM:615273

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