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loading...| Preferred Name |
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency |
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| Synonyms |
HMAHCHD |
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| Definitions |
(HMAHCHD) - A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. |
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| ID |
http://identifiers.org/omim/613752 |
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| altLabel |
HMAHCHD |
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| definition |
(HMAHCHD) - A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. |
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| id |
OMIM:613752 |
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| notation |
OMIM:613752 |
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| prefLabel |
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/613752 | REXO | SAME_URI | |
| http://identifiers.org/omim/613752 | RETO | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/613752 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_613752 | CCO | LOOM | |
| http://identifiers.org/omim/613752 | REXO | LOOM | |
| http://identifiers.org/omim/613752 | RETO | LOOM |