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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/207900
http://purl.bioontology.org/ontology/OMIM/207900
|
|---|---|
| Preferred Name | ARGININOSUCCINIC ACIDURIA |
| Synonyms |
ARGININOSUCCINASE DEFICIENCY
ASL DEFICIENCY
ARGININOSUCCINIC ACID LYASE DEFICIENCY
ARGININOSUCCINATE LYASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ARGININOSUCCINASE DEFICIENCY
ASL DEFICIENCY
ARGININOSUCCINIC ACID LYASE DEFICIENCY
ARGININOSUCCINATE LYASE DEFICIENCY
|
|---|---|
| prefLabel | ARGININOSUCCINIC ACIDURIA
|
| Gene Symbol | ASL
|
| Scope Statement | Caused by mutation in the argininosuccinate lyase gene (ASL, 608310.0001) [MOLECULAR BASIS]
Onset in neonatal period or infancy [MISCELLANEOUS]
Prevalence is estimated to be 1 in 150,000 [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7cen-q11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 207900
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268547
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |