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loading...| Preferred Name |
Congenital hyperammonemia, type I |
|
| Synonyms |
Congenital hyperammonaemia, type I |
|
| ID |
http://purl.bioontology.org/ontology/SNMI/D6-A5210 |
|
| altLabel |
Congenital hyperammonaemia, type I CPS deficiency CPS I deficiency Carbomyl-phosphate synthethase deficiency |
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| Associated with | ||
| cui |
C4082171 |
|
| notation |
D6-A5210 |
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| prefLabel |
Congenital hyperammonemia, type I |
|
| SIC |
270.6 |
|
| SMX |
(M-27000) (F-6E380) |
|
| tui |
T047 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/RCD/X40SK | RCD | CUI | |
| http://purl.bioontology.org/ontology/MESH/D020165 | MESH | CUI | |
| http://purl.bioontology.org/ontology/OMIM/237300 | OMIM | CUI |