loading...| Preferred Name |
PROSAPOSIN |
| Synonyms |
SAPA |
| ID |
http://purl.bioontology.org/ontology/OMIM/176801 |
| altLabel |
SAPA METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY PSAP SAP1, FORMERLY SAPC SAPOSIN C SAPOSIN A GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY SPHINGOLIPID ACTIVATOR PROTEIN 2, FORMERLY SAPOSIN D SAPB SAPOSIN B COMBINED SAPOSIN DEFICIENCY SPHINGOLIPID ACTIVATOR PROTEIN 1, FORMERLY SAP2, FORMERLY SAPD |
| cui |
C0268262 C1418975 C1867717 C1864651 C2673266 C2673635 |
| Gene Locus |
10q22.1 |
| Gene Symbol |
PSAP SAP1 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/176801.0001 http://purl.bioontology.org/ontology/OMIM/176801.0002 http://purl.bioontology.org/ontology/OMIM/176801.0014 http://purl.bioontology.org/ontology/OMIM/176801.0015 http://purl.bioontology.org/ontology/OMIM/176801.0006 http://purl.bioontology.org/ontology/OMIM/176801.0007 http://purl.bioontology.org/ontology/OMIM/176801.0009 http://purl.bioontology.org/ontology/OMIM/176801.0008 http://purl.bioontology.org/ontology/OMIM/176801.0010 http://purl.bioontology.org/ontology/OMIM/176801.0011 http://purl.bioontology.org/ontology/OMIM/176801.0003 http://purl.bioontology.org/ontology/OMIM/176801.0005 http://purl.bioontology.org/ontology/OMIM/176801.0004 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
176801 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
PROSAPOSIN |
| tui |
T028 T047 |