JSON

prolidase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008221

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. [ Orphanet:742 ]

Term info

database cross reference
  • MESH:D056732 (Orphanet:742/e)
  • Orphanet:742 (OMIM:170100)
  • GARD:0007473 (MONDO:equivalentTo)
  • NCIT:C85029 (MONDO:equivalentTo)
  • OMIM:170100 (Orphanet:742/e)
  • SCTID:410055005 (MONDO:equivalentTo)
  • DOID:0111540 (MONDO:equivalentTo)
  • UMLS:C0268532 (Orphanet:742/e)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/5682

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://purl.obolibrary.org/obo/Orphanet_742, http://purl.obolibrary.org/obo/DOID_0111540, http://identifiers.org/mesh/D056732, https://omim.org/entry/170100, http://purl.obolibrary.org/obo/NCIT_C85029, http://linkedlifedata.com/resource/umls/id/C0268532, http://identifiers.org/snomedct/410055005

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005093, http://purl.obolibrary.org/obo/MONDO_0000508, http://purl.obolibrary.org/obo/MONDO_0019520

has exact synonym

prolidase deficiency, hyperimidodipeptiduria

has related synonym

Peptidase deficiency, Imidodipeptidase deficiency

id

MONDO:0008221