Human Phenotype Ontology 
Grandparent Node:
expandMorphological central nervous system abnormality (HP:0002011)help
Parent Node:
expandAbnormal cerebrospinal fluid morphology (HP:0002921)help
..Starting node
..expandAbnormal CSF/serum albumin ratio (HP:0030981)help
Term ID: 30981
Name: Abnormal CSF/serum albumin ratio
Synonym:
Definition: A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.
Comments:
Reference: HP:0030981
Genes and Diseases:
 
       Child Nodes:
........expandIncreased CSF/serum albumin ratio (HP:0025459) help
........expandDecreased CSF/serum albumin ratio (HP:0030978) help

 Sister Nodes: 
..expandAbnormal CSF metabolite concentration (HP:0025454) help
..expandAbnormal CSF protein concentration (HP:0025456) help
..expandCerebrospinal fluid rhinorrhoea (HP:0030998) help
..expandCSF pleocytosis (HP:0012229) help
..expandExtra-axial cerebrospinal fluid accumulation (HP:0012510) help
..expandHydrocephalus (HP:0000238) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030981HP:0030981Abnormal CSF/serum albumin ratio0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0030981HP:0025459Increased CSF/serum albumin ratio1 CL E G H
HP:0030981HP:0030978Decreased CSF/serum albumin ratio1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32


Genes (1) :NGLY1

Diseases (1) :OMIM:615273
 

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