ZFIN Human Disease: lysosomal storage disease

OBO ID: DOID:3211

Term Name:	lysosomal storage disease		Search Ontology:
Synonyms:	disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder
Definition:	An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. http://en.wikipedia.org/wiki/Lysosomal_storage_disease
References:	MESH:D016464 NCI:C61250 SNOMEDCT_US_2023_03_01:23585005 UMLS_CUI:C0085078
Ontology:	Human Disease ( DOID:3211 )

Relationships

is a type of:	inherited metabolic disorder inherited metabolic disorder Show first 5 Terms
has subtype:	alpha-mannosidosis aspartylglucosaminuria beta-mannosidosis cystinosis Danon disease ... Show All 11 Terms alpha-mannosidosis aspartylglucosaminuria beta-mannosidosis cystinosis Danon disease fucosidosis galactosialidosis lipid storage disease mucopolysaccharidosis Schindler disease sialuria Show first 5 Terms

OTHER lysosomal storage disease PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
hexb^re04/re04	standard conditions	Kuil et al., 2019
AB + CRISPR1-vps16	standard conditions	Sofou et al., 2021
clcn7^zh606/zh606; zf2113Tg	standard conditions	Chen et al., 2019
csf1ra^j4e1/j4e1; csf1rb^re01/re01; re10Tg	standard conditions	Kuil et al., 2019

PHENOTYPE No data available

CITATIONS (6)