inborn disorder of proline metabolism
Go to external page http://purl.obolibrary.org/obo/MONDO_0017355
An inherited metabolic disease that is has its basis in the disruption of proline metabolic process. [ MONDO:patterns/inborn_metabolic ]
Synonyms: rare inborn error of proline metabolic process inborn proline metabolic process disorder inborn error of proline metabolic process disorder of proline metabolism
Term information
- Orphanet:289866 (MONDO:equivalentTo)
- UMLS:CN227118 (MONDO:equivalentTo)
- GARD:21157 (Orphanet:289866)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_289866
http://linkedlifedata.com/resource/umls/id/CN227118