loading...| Preferred Name |
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY |
| Synonyms |
KRBSAPA |
| ID |
http://purl.bioontology.org/ontology/OMIM/611722 |
| altLabel |
KRBSAPA SAPOSIN A DEFICIENCY |
| cui |
C2673266 |
| Gene Locus |
10q22.1 |
| Gene Symbol |
PSAPD PSAP SAP1 PARK24 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003761 http://purl.bioontology.org/ontology/OMIM/MTHU010474 http://purl.bioontology.org/ontology/OMIM/MTHU041789 http://purl.bioontology.org/ontology/OMIM/MTHU021599 http://purl.bioontology.org/ontology/OMIM/MTHU021600 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU021597 http://purl.bioontology.org/ontology/OMIM/MTHU021598 http://purl.bioontology.org/ontology/OMIM/MTHU021601 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
611722 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY |
| Scope Statement |
Caused by mutation in the prosaposin gene (PSAP, 176801.0009). [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Early death [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567097 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C567097 | Medical Subject Headings / 医学主题词表 | LOOM |