Human Phenotype Ontology 
..Starting node
..expandDecreased circulating apolipoprotein B concentration (HP:0034075)help
Term ID: 34075
Name: Decreased circulating apolipoprotein B concentration
Synonym:
Definition: Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.
Comments:
Reference: HP:0034075
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034075HP:0034075Decreased circulating apolipoprotein B concentration0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56


Genes (1) :CCT5

Diseases (1) :OMIM:256840
 

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