Enum: LysosomalStorageEnum

Classification of lysosomal storage diseases by accumulated substrate type. Values link to MONDO disease grouping terms.

URI: MONDO:0002561

Permissible Values

Value	Meaning	Description
sphingolipidosis	MONDO:0019255	Accumulation of sphingolipids (Gaucher, Fabry, Niemann-Pick, Krabbe, etc
mucopolysaccharidosis	MONDO:0019249	Accumulation of glycosaminoglycans (MPS I through IX)
mucolipidosis	MONDO:0019248	Features of both sphingolipidoses and mucopolysaccharidoses
glycoproteinosis	MONDO:0017731	Accumulation of glycoproteins (fucosidosis, mannosidosis, sialidosis)
neuronal ceroid lipofuscinosis	MONDO:0016295	Accumulation of lipofuscin in neurons (Batten disease family)

Slots

Name	Description
classification_value

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: LysosomalStorageEnum
description: Classification of lysosomal storage diseases by accumulated substrate
  type. Values link to MONDO disease grouping terms.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
enum_uri: MONDO:0002561
permissible_values:
  sphingolipidosis:
    text: sphingolipidosis
    description: Accumulation of sphingolipids (Gaucher, Fabry, Niemann-Pick, Krabbe,
      etc.)
    meaning: MONDO:0019255
  mucopolysaccharidosis:
    text: mucopolysaccharidosis
    description: Accumulation of glycosaminoglycans (MPS I through IX)
    meaning: MONDO:0019249
  mucolipidosis:
    text: mucolipidosis
    description: Features of both sphingolipidoses and mucopolysaccharidoses
    meaning: MONDO:0019248
  glycoproteinosis:
    text: glycoproteinosis
    description: Accumulation of glycoproteins (fucosidosis, mannosidosis, sialidosis)
    meaning: MONDO:0017731
  neuronal ceroid lipofuscinosis:
    text: neuronal ceroid lipofuscinosis
    description: Accumulation of lipofuscin in neurons (Batten disease family)
    meaning: MONDO:0016295