Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Synonyms

GNMT DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/606664

altLabel

GNMT DEFICIENCY

cui

C1847720

Gene Locus

6p12

Gene Symbol

GNMT

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU029542

http://purl.bioontology.org/ontology/OMIM/MTHU003943

http://purl.bioontology.org/ontology/OMIM/MTHU000204

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

606664

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GLYCINE N-METHYLTRANSFERASE DEFICIENCY

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111037 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C564683 Medical Subject Headings CUI