loading...| Preferred Name |
Farber Lipogranulomatosis |
| Synonyms |
Diseases, Farber's |
| Definitions |
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE. |
| ID |
http://purl.bioontology.org/ontology/MESH/D055577 |
| altLabel |
Diseases, Farber's Ceramidase Deficiency, Acid Ceramidase Deficiencies Farber's Diseases N Laurylsphingosine Deacylase Deficiency Deficiencies, N-Laurylsphingosine Deacylase Deficiencies, Ceramidase Disease, Farber's Lipogranulomatosis, Farber Ceramidase Deficiency Deficiency, Ceramidase N-Laurylsphingosine Deacylase Deficiency Deficiency, N-Laurylsphingosine Deacylase N-Laurylsphingosine Deacylase Deficiencies Farber Disease Acid Ceramidase Deficiency Deficiency, Acid Ceramidase Acid Ceramidase Deficiencies Farber's Disease Farbers Disease |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0268255 |
| DC |
1 |
| definition |
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE. |
| DX |
20090101 |
| HN |
2009 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2009 |
| MDA |
20080708 |
| MMR |
20210701 |
| MN |
C18.452.584.563.641.803.325 C16.320.565.398.641.803.325 C18.452.648.595.554.825.250 C18.452.132.100.435.825.250 C10.228.140.163.100.435.825.250 C16.320.565.189.435.825.250 C18.452.648.398.641.803.325 C16.320.565.595.554.825.250 C18.452.648.189.435.825.250 |
| notation |
D055577 |
| prefLabel |
Farber Lipogranulomatosis |
| TERMUI |
T714821 T714822 T714834 T833796 T833797 T833795 |
| TH |
NLM (2009) ORD (2010) GHR (2014) |
| tui |
T047 |
| subClassOf |