Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ARGININOSUCCINIC ACIDURIA
Synonyms

ARGININOSUCCINIC ACID LYASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/207900
altLabel

ARGININOSUCCINIC ACID LYASE DEFICIENCY

ARGININOSUCCINASE DEFICIENCY

ASL DEFICIENCY

ARGININOSUCCINATE LYASE DEFICIENCY
cui

C0268547
Gene Locus

7cen-q11.2
Gene Symbol

ASL
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU007051

http://purl.bioontology.org/ontology/OMIM/MTHU007059

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU041712

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU027675

http://purl.bioontology.org/ontology/OMIM/MTHU037253

http://purl.bioontology.org/ontology/OMIM/MTHU014418

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU037251

http://purl.bioontology.org/ontology/OMIM/MTHU014416

http://purl.bioontology.org/ontology/OMIM/MTHU020854

http://purl.bioontology.org/ontology/OMIM/MTHU007049

http://purl.bioontology.org/ontology/OMIM/MTHU014420

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU007048

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU041711

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU027676

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU014417

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU023453

http://purl.bioontology.org/ontology/OMIM/MTHU014421
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

207900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ARGININOSUCCINIC ACIDURIA
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D056807 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D056807 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/HP_0025630 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LA21162-5 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA21162-5 Logical Observation Identifier Names and Codes LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C50.A0 International Classification of Diseases, 11th Edition, China LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84569 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_14755 Human Disease Ontology 123 LOOM