Human Phenotype Ontology 
Grandparent Node:
expandAtrophy/Degeneration affecting the central nervous system (HP:0007367)help
Parent Node:
expandIncreased cerebral lipofuscin (HP:0011813)help
..Starting node
..expandIncreased extraneuronal autofluorescent lipopigment (HP:0003463)help
Term ID: 3463
Name: Increased extraneuronal autofluorescent lipopigment
Synonym: Lipopigment in extraneuronal cells
Definition: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
Comments:
Reference: HP:0003463
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncreased neuronal autofluorescent lipopigment (HP:0002074) 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:0003463HP:0003463Increased extraneuronal autofluorescent lipopigment0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0003463HP:0003463Increased extraneuronal autofluorescent lipopigment0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203


Genes (2) :CLN3 TPP1

Diseases (2) :OMIM:204200 OMIM:204500
 

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