Preferred Name |
PURINE NUCLEOSIDE PHOSPHORYLASE |
Synonyms |
PNP |
ID |
http://purl.bioontology.org/ontology/OMIM/164050 |
altLabel |
PNP NUCLEOSIDE PHOSPHORYLASE DEFICIENCY NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM NP PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE NUCLEOSIDE PHOSPHORYLASE |
cui |
C0268125 C4016278 C1417772 |
Gene Locus |
14q13.1 |
Gene Symbol |
PNP NP |
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/164050.0001 http://purl.bioontology.org/ontology/OMIM/164050.0005 http://purl.bioontology.org/ontology/OMIM/164050.0007 http://purl.bioontology.org/ontology/OMIM/164050.0006 http://purl.bioontology.org/ontology/OMIM/164050.0008 http://purl.bioontology.org/ontology/OMIM/164050.0010 http://purl.bioontology.org/ontology/OMIM/164050.0002 http://purl.bioontology.org/ontology/OMIM/164050.0003 |
MIMTYPEMEANING |
Gene with known sequence |
notation |
164050 |
OMIM Entry Type |
1 |
OMIM MimType Value |
star |
prefLabel |
PURINE NUCLEOSIDE PHOSPHORYLASE |
tui |
T028 T033 T047 |