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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/237300
http://purl.bioontology.org/ontology/OMIM/237300
|
|---|---|
| Preferred Name | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO |
| Synonyms |
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
CPS I DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
CPS I DEFICIENCY
|
|---|---|
| prefLabel | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
|
| Gene Symbol |
CPS1
PHN
|
| Scope Statement | Prevalence of 1 in 200,000 to 1 in 800,000 [MISCELLANEOUS]
Two types - lethal neonatal and less severe, late onset [MISCELLANEOUS]
Caused by mutation in the carbamoylphosphate synthetase I gene (CPS1, 608307.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q35
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 237300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0751753
C4082171
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |