loading...| Preferred Name |
prolidase deficiency |
| Synonyms |
Peptidase deficiency prolidase deficiency Imidodipeptidase deficiency hyperimidodipeptiduria |
| Definitions |
An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008221 |
| database_cross_reference |
MESH:D056732 SCTID:410055005 DOID:0111540 Orphanet:742 UMLS:C0268532 OMIM:170100 GARD:0007473 NCIT:C85029 |
| definition |
An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. |
| exactMatch |
http://identifiers.org/snomedct/410055005 http://purl.obolibrary.org/obo/NCIT_C85029 http://identifiers.org/mesh/D056732 http://linkedlifedata.com/resource/umls/id/C0268532 |
| has characteristic | |
| has_exact_synonym |
prolidase deficiency hyperimidodipeptiduria |
| has_related_synonym |
Peptidase deficiency Imidodipeptidase deficiency |
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5588 |
| id |
MONDO:0008221 |
| in_subset | |
| label |
prolidase deficiency |
| notation |
MONDO:0008221 |
| prefLabel |
prolidase deficiency |
| treeView | |
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000508 |
| subClassOf |