Preferred Name |
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency |
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Synonyms |
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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://purl.obolibrary.org/obo/OMIM_613752 |
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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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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:613752 |
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label |
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency |
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notation |
OMIM:613752 |
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prefLabel |
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency |
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treeView | ||
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/OMIM/613752 | OMIM | LOOM | |
http://identifiers.org/omim/613752 | REXO | LOOM | |
http://identifiers.org/omim/613752 | GEXO | LOOM | |
http://identifiers.org/omim/613752 | RETO | LOOM |