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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/612736
http://purl.bioontology.org/ontology/OMIM/612736
|
|---|---|
| Preferred Name | CEREBRAL CREATINE DEFICIENCY SYNDROME 2 |
| Synonyms |
CCDS2
GAMT DEFICIENCY
CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CCDS2
GAMT DEFICIENCY
CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
|
|---|---|
| prefLabel | CEREBRAL CREATINE DEFICIENCY SYNDROME 2
|
| Gene Symbol |
CCDS2
GAMT
|
| notation | 612736
|
| Scope Statement | Clinical and biochemical symptoms improved with oral administration of creatine monohydrate [MISCELLANEOUS]
Caused by mutation in the guanidinoacetate methyltransferase gene (GAMT, 601240.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 19p13.3
|
| tui | T047
|
| cui | C0574080
|
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