| Concept UI |
CON00072 (Tree)
|
| Name |
Gaucher disease, atypical, due to saposin C deficiency
|
| Disease name: Preferred Term |
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
| Disease name: Synonyms (from OMIM and MeSH) |
PROSAPOSIN DEFICIENCY
COMBINED SAP DEFICIENCY
PSAPD
|
| UMLS CUI |
C1864651
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C566435
|
| OMIM DATA: Gene |
PSAP
|
| OMIM DATA: Gene Number |
176801
|
| OMIM DATA: Phenotype Number |
610539
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Hepatomegaly
- Intellectual Disability (Mental Retardation)
- Liver Diseases
- Lymphatic Diseases
- Mental Disorders Diagnosed in Childhood
- Neurobehavioral Manifestations
- Splenic Diseases
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
66
|