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Metachromatic Leukodystrophy due to Saposin B Deficiency (DOID:9004615)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
combined saposin deficiency  
Diffuse Cerebral Sclerosis, Scholz Type 
Metachromatic Leukodystrophy due to Saposin B Deficiency  
Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A 
Pseudoarylsulfatase A Deficiency  

Exact Synonyms: Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency ;   Saposin B Deficiency
Primary IDs: MESH:C562609 ;   RDO:0012249
Alternate IDs: OMIM:249900

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.