loading...| Preferred Name |
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1 |
| Synonyms |
ACID CERAMIDASE |
| ID |
http://purl.bioontology.org/ontology/OMIM/613468 |
| altLabel |
ACID CERAMIDASE AC ACID CDase FARBER LIPOGRANULOMATOSIS ASAH1 SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY ACDase ASAH N-ACYLSPHINGOSINE DEACYLASE |
| cui |
C1834569 C0268255 C1412573 |
| Gene Locus |
8p22-p21.3 |
| Gene Symbol |
AC ASAH1 SMAPME |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/613468.0001 http://purl.bioontology.org/ontology/OMIM/613468.0002 http://purl.bioontology.org/ontology/OMIM/613468.0010 http://purl.bioontology.org/ontology/OMIM/613468.0003 http://purl.bioontology.org/ontology/OMIM/613468.0004 http://purl.bioontology.org/ontology/OMIM/613468.0008 http://purl.bioontology.org/ontology/OMIM/613468.0009 http://purl.bioontology.org/ontology/OMIM/613468.0011 http://purl.bioontology.org/ontology/OMIM/613468.0006 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
613468 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1 |
| tui |
T028 T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C537563 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/D055577 | Medical Subject Headings | CUI |