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Term:
Parent Terms Term With Siblings Child Terms
apparent mineralocorticoid excess 
ASAH1-related sphingolipidosis +  
autosomal recessive cerebellar ataxia with late-onset spasticity 
Barth syndrome 
cerebrotendinous xanthomatosis 
CHILD syndrome 
CHIME syndrome 
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 
Erdheim-Chester disease 
Fabry disease 
familial apolipoprotein C-II deficiency 
familial lipoprotein lipase deficiency 
fatty acid hydroxylase-associated neurodegeneration 
gangliosidosis +  
Gaucher disease +   
GM1 gangliosidosis type 1 
hereditary spastic paraplegia 39 
hyperphosphatasia-intellectual disability syndrome 
intellectual disability, autosomal recessive 53 
Juvenile Xanthogranuloma 
Krabbe disease +  
Krabbe disease due to saposin A deficiency 
lipoprotein glomerulopathy 
lysosomal acid lipase deficiency +  
metachromatic leukodystrophy +  
mevalonate kinase deficiency +  
mucosulfatidosis 
multiple congenital anomalies-hypotonia-seizures syndrome 2 
Necrobiotic Xanthogranuloma 
neuronal ceroid lipofuscinosis 8 northern epilepsy variant 
Niemann-Pick disease +  
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +  
PHARC syndrome 
PSAP-related sphingolipidosis +  
rhizomelic chondrodysplasia punctata type 1 
sea-blue histiocyte syndrome 
A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.
sinus histiocytosis with massive lymphadenopathy +  
sitosterolemia 
Sjogren-Larsson syndrome 
Smith-Lemli-Opitz syndrome 

Synonyms
Related Synonyms: SEA-blue histiocyte disease ;   inherited Lipemic splenomegaly ;   sea-blue histiocytosis
Alternate IDs: MONDO:0010017
Xrefs: DOID:4423 ;   GARD:8241 ;   MEDGEN:19908 ;   MESH:D012618 ;   MIM:269600 ;   NCI:C85062 ;   ORDO:158029 ;   SCTID:37821003 ;   UMLS:C0036489
Definition Sources: NCIT:P378

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