Preferred Name |
5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE |
|
Synonyms |
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE |
|
ID |
http://purl.bioontology.org/ontology/OMIM/156570 |
|
altLabel |
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE MTR NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO METHIONINE SYNTHASE MS TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE |
|
cui |
C1855128 C1417453 C4016262 |
|
Gene Locus |
1q43 |
|
Gene Symbol |
MTR HMAG |
|
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/156570.0004 http://purl.bioontology.org/ontology/OMIM/156570.0001 http://purl.bioontology.org/ontology/OMIM/156570.0005 http://purl.bioontology.org/ontology/OMIM/156570.0009 http://purl.bioontology.org/ontology/OMIM/156570.0007 http://purl.bioontology.org/ontology/OMIM/156570.0002 http://purl.bioontology.org/ontology/OMIM/156570.0003 http://purl.bioontology.org/ontology/OMIM/156570.0006 http://purl.bioontology.org/ontology/OMIM/156570.0008 |
|
MIMTYPEMEANING |
Gene with known sequence |
|
notation |
156570 |
|
OMIM Entry Type |
1 |
|
OMIM MimType Value |
star |
|
prefLabel |
5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE |
|
tui |
T047 T033 T028 |