Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/608688
http://purl.bioontology.org/ontology/OMIM/608688
Preferred Name

AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
Synonyms
ATIC DEFICIENCY
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ATIC DEFICIENCY
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY
prefLabel
AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
Gene Symbol
PURH
AICAR
ATIC
Scope Statement
Caused by mutation in the 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene (ATIC, 601731.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU018963
http://purl.bioontology.org/ontology/OMIM/MTHU071697
http://purl.bioontology.org/ontology/OMIM/MTHU071698
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU001850
http://purl.bioontology.org/ontology/OMIM/MTHU001852
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU001849
http://purl.bioontology.org/ontology/OMIM/MTHU057896
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU001856
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU001851
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU001857
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU008022
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU001854
http://purl.bioontology.org/ontology/OMIM/MTHU036450
http://purl.bioontology.org/ontology/OMIM/MTHU011439
http://purl.bioontology.org/ontology/OMIM/MTHU001858
http://purl.bioontology.org/ontology/OMIM/MTHU036571
http://purl.bioontology.org/ontology/OMIM/MTHU001853
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
See more
See less
tui
T047
Gene Locus
2q35
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
608688
Semantic type UMLS property
Has inheritance type
cui
C1837530
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display