Farber lipogranulomatosis
Information
- Disease name
- Farber lipogranulomatosis
- Disease ID
- DOID:0050464
- Description
- "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition." [url:https\://en.wikipedia.org/wiki/Farber_disease]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03233841 | Completed | Farber Disease Natural History Study | November 22, 2017 | December 9, 2019 |
- Disase is a (Disease Ontology)
- DOID:9455
- Cross Reference ID (Disease Ontology)
- GARD:6426
- Cross Reference ID (Disease Ontology)
- MESH:D055577
- Cross Reference ID (Disease Ontology)
- MIM:228000
- Cross Reference ID (Disease Ontology)
- NCI:C84710
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:79935000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268255
- Exact Synonym (Disease Ontology)
- acid ceramidase deficiency
- Exact Synonym (Disease Ontology)
- Farber disease
- Exact Synonym (Disease Ontology)
- N-laurylsphingosine deacylase deficiency
- MeSH unique ID (MeSH (Medical Subject Headings))
- D055577