| Concept UI |
CON00100 (Tree)
|
| Name |
Wolman disease
|
| Aliases |
Acid lipase deficiency
Lysosomal acid lipase deficiency
|
| Disease name: INCLUDED |
WOLMAN DISEASE, INCLUDED
|
| Disease name: Preferred Term |
LYSOSOMAL ACID LIPASE DEFICIENCY
|
| Disease name: Synonyms (from OMIM and MeSH) |
CESD
LAL DEFICIENCY CHOLESTEROL ESTER HYDROLASE DEFICIENCY
LIPA DEFICIENCY
CHOLESTERYL ESTER STORAGE DISEASE
|
| UMLS CUI |
C0043208
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D015223
|
| OMIM DATA: Gene |
LIPA
|
| OMIM DATA: Gene Number |
613497
|
| OMIM DATA: Phenotype Number |
278000
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Adrenal Gland Diseases
- Anemia
- Developmental Disabilities
- Diarrhea
- Endocrine System Diseases
- Growth Disorders
- Hematologic Diseases
- Hepatomegaly
- Hyperbilirubinemia
- Liver Diseases
- Lymphatic Diseases
- Mental Disorders Diagnosed in Childhood
- Muscle Hypotonia
- Neuromuscular Manifestations
- Pathologic Processes
- Signs and Symptoms, Digestive
- Splenic Diseases
- Vomiting
- Jaundice
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
73
|