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Details
Link-It Detail - Disease - Prolidase Deficiency
Debug Stats
  • ### Total Build Time: 217 ms 28.298 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 395 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=43 ms Completed: 43 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1.846 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 9.396 KB
  • CONCEPT_RELATIONSHIPS gt=135 ms Completed: 135 ms rowSize= 12.778 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.188 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Prolidase Deficiency C0268532
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Skin Abnormalities C0037268
img Amino Acid Metabolism, Inborn Errors C0002514
img Skin Diseases, Genetic C0037277
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (29)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 26
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 2
manifestation_​of : 23
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM2img Dipeptidases C0012511
DISO_to_DISO2img Leg Ulcer C0023223
DISO_to_PHEN2img genetic aspects C0017399
DISO_to_CHEMassociated_withimg X-Pro dipeptidase C0072115
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Beaked nose C0240538
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Caused by mutation in the peptidase D gene (PEPD, 613230.0001) C3277394
DISO_to_DISOmanifestation_ofimg Congenital anomaly of face C0266617
DISO_to_DISOmanifestation_ofimg Crusting erythematous dermatitis C1868496
DISO_to_DISOpermuted_term_ofimg Deficiency of prolidase C0268532
DISO_to_DISOmanifestation_ofimg Deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts C1868495
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Diffuse telangiectases C1265776
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
DISO_to_DISOmanifestation_ofimg Exophthalmos C0015300
DISO_to_DISOmanifestation_ofimg Highly variable expression C3277395
DISO_to_DISOmanifestation_ofimg Hyperimidodipeptiduria C1534653
DISO_to_DISOmanifestation_ofimg Hypertelorism C0020534
DISO_to_DISOmanifestation_ofimg Impetigo-like eruptions C3277392
DISO_to_DISOmanifestation_ofimg Increased frequency of infection C1868494
DISO_to_DISOmanifestation_ofimg Low posterior hairline C1865008
DISO_to_DISOmanifestation_ofimg Lupus Erythematosus, Systemic C0024141
DISO_to_DISOmanifestation_ofimg Median age at diagnosis 7 years C1868499
DISO_to_DISOmanifestation_ofimg Pruritic eczematous lesions C3277393
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPEPD5184peptidase D
img GENERIF, Score=1000, Pubmed Id: 15878628, UMLKSK CUI: C0268532
img GENERIF, Score=1000, Pubmed Id: 17570078, UMLKSK CUI: C0268532
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268532Prolidase Deficiency0self