ZFIN Human Disease: prolidase deficiency

OBO ID: DOID:0111540

Term Name:	prolidase deficiency		Search Ontology:
Synonyms:	hyperimidodipeptiduria imidodipeptidase deficiency peptidase deficiency
Definition:	An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (3)
References:	GARD:7473 MESH:D056732 NCI:C85029 OMIM:170100 ORDO:742 SNOMEDCT_US_2023_03_01:360994007 UMLS_CUI:C0268532
Ontology:	Human Disease ( DOID:0111540 )

Relationships

is a type of:	amino acid metabolic disorder autosomal recessive disease amino acid metabolic disorder autosomal recessive disease Show first 5 Terms

OTHER prolidase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PEPD	pepd	Prolidase deficiency	170100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None