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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614300
http://purl.bioontology.org/ontology/OMIM/614300
|
|---|---|
| Preferred Name | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY
MRT8, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY
MRT8, FORMERLY
|
|---|---|
| prefLabel | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
|
| Gene Symbol | ADK
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the adenosine kinase gene (ADK, 102750.0001) [MOLECULAR BASIS]
Six patients have been reported (as of October 2011) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q11-q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4706555
|
| Moved from | 611094
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |