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loading...| Preferred Name |
Brain demyelination due to methionine adenosyltransferase deficiency |
|
| Synonyms |
MAT deficiency Methionine adenosyltransferase deficiency MAT I/III deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_17780 |
|
| altLabel |
MAT deficiency Methionine adenosyltransferase deficiency MAT I/III deficiency |
|
| id_Medline |
neant |
|
| id_MIM |
250850 |
|
| id_OMS |
E72.1 |
|
| id_Orpha |
168598 |
|
| inheritance |
Autosomal recessive |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_17780 |
|
| prefLabel |
Brain demyelination due to methionine adenosyltransferase deficiency |
|
| prevalence |
<1 / 1 000 000 |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_168598 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_168598 | CCONT | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_168598 | HSPO | LOOM |