Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/613752
cui

C3151058
Gene Locus

20cen-q13.1
Gene Symbol

SAHH

AHCY
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

613752
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
tui

T047
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http://purl.bioontology.org/ontology/MESH/C564683 Medical Subject Headings CUI