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loading...| Preferred Name |
SACCHAROPINURIA |
| Synonyms |
ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/268700 |
| altLabel |
ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY HYPERLYSINEMIA, TYPE II SACCHAROPINE DEHYDROGENASE DEFICIENCY |
| cui |
C0268556 |
| Gene Locus |
7q31.3 |
| Gene Symbol |
AASS |
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown. |
| notation |
268700 |
| OMIM Entry Type |
5 |
| OMIM MimType Value |
perc |
| prefLabel |
SACCHAROPINURIA |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C537218 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D020167 | Medical Subject Headings | CUI |