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loading...| Preferred Name |
Prolidase Deficiency |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85029 |
| code |
C85029 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities. |
| FULL_SYN |
Prolidase Deficiency |
| label |
Prolidase Deficiency |
| Preferred_Name |
Prolidase Deficiency |
| prefixIRI |
Thesaurus:C85029 |
| prefLabel |
Prolidase Deficiency |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0268532 |
| subClassOf |
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