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Term:
Niemann-Pick disease
(DOID:14504)
Annotations:
Rat: (27)
Mouse: (27)
Human: (31)
Chinchilla: (23)
Bonobo: (26)
Dog: (27)
Squirrel: (24)
Pig: (26)
Naked Mole-rat: (25)
Green Monkey: (26)
Parent Terms
Term With Siblings
Child Terms
non-Langerhans-cell histiocytosis
+
sphingolipidosis
+
adult xanthogranuloma
Erdheim-Chester disease
Fabry disease
+
Farber lipogranulomatosis
gangliosidosis
+
Gaucher's disease
+
hemophagocytic lymphohistiocytosis
+
juvenile xanthogranuloma
Krabbe disease
+
metachromatic leukodystrophy
+
mucosulfatidosis
multicentric reticulohistiocytosis
Niemann-Pick disease
+
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (DO)
reticulohistiocytic granuloma
sea-blue histiocytosis
Sinus Histiocytosis
+
Sulfatidosis
+
Niemann-Pick disease type A
+
Niemann-Pick disease type B
+
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Niemann-Pick Disease Type D
Synonyms
Exact Synonyms:
Niemann Pick diseases ; lipoid histiocytosis ; sphingomyelin lipidosis ; sphingomyelinase deficiencies ; sphingomyelinase deficiency ; sphingomyelinase deficiency disease
Narrow Synonyms:
ACID SPHINGOMYELINASE DEFICIENCY
Primary IDs:
MESH:D009542
Xrefs:
EFO:1001380
;
GARD:13334
;
ICD10CM:E75.24
;
NCI:C61269
Definition Sources:
https://en.wikipedia.org/wiki/Niemann-Pick_disease
"DO" "DO",
https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease
"DO" "DO"