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Details
Link-It Detail - Disease - Netherton Syndrome
Debug Stats
  • ### Total Build Time: 197 ms 41.229 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 277 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 1.422 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=47 ms Completed: 47 ms rowSize= 10.773 KB
  • CONCEPT_RELATIONSHIPS gt=97 ms Completed: 97 ms rowSize= 13.464 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 13.602 KB
  • CONCEPT_XREFS gt=15 ms Completed: 15 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Netherton Syndrome C0265962
Definition (1)
A rare autosomal recessive form of ichthyosis caused by mutations in the SPINK5 gene. Patients have spiky and fragile hair.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Skin Diseases, Genetic C0037277
img Abnormalities, Multiple C0000772
img Ichthyosiform Erythroderma, Congenital C0079583
Ancestral Roots
RootRoot Plus OneDepthParent
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
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ichthyosiform Erythroderma, Congenital C0079583
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Ichthyosiform Erythroderma, Congenital C0079583
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Ichthyosiform Erythroderma, Congenital C0079583
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212905img Ichthyosiform Erythroderma, Congenital C0079583
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Ichthyosiform Erythroderma, Congenital C0079583
Relationships (29)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 2
diso_​to_​diso : 24
diso_​to_​phen : 1


Relationships:
none : 4
associated_​with : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
manifestation_​of : 19
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_CHEM12img Peptidase Inhibitory Proteins, Secretory C1721000
DISO_to_CHEM12img Proteinase Inhibitory Proteins, Secretory C1721000
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOmanifestation_ofimg Angioedema C0002994
DISO_to_DISOmanifestation_ofimg Asthma C0004096
DISO_to_DISOmanifestation_ofimg Caused by mutation in the serine protease inhibitor, Kazal type, 5 gene (SPINK5, 605010.0001) C1850543
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOmanifestation_ofimg Congenital lamellar ichthyosis C1850540
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOassociated_withimg Dehydrated structure C0011174
DISO_to_DISOmanifestation_ofimg Dermatitis, Exfoliative C0011606
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Elevated immunoglobulin E (IgE) C1850539
DISO_to_DISOmanifestation_ofimg Enteropathy with villous atrophy C1850538
DISO_to_DISOmanifestation_ofimg Eyebrows sparse C0578682
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Food Allergy C0016470
DISO_to_DISOmanifestation_ofimg Hay fever C0018621
DISO_to_DISOmanifestation_ofimg Hypereosinophilia C0745091
DISO_to_DISOassociated_withimg Hyperkeratosis C0870082
DISO_to_DISOmanifestation_ofimg Hypernatremic dehydration C1850544
DISO_to_DISOmanifestation_ofimg INFECTION, RECURRENT C0239998
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanKLK525818kallikrein-related peptidase 5
img GENERIF, Score=1000, Pubmed Id: 16628198, UMLKSK CUI: C0265962
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
img GENERIF, Score=734, Pubmed Id: 17989726, UMLKSK CUI: C0265962
img GENERIF, Score=1000, Pubmed Id: 11874482, UMLKSK CUI: C0265962
img GENERIF, Score=1000, Pubmed Id: 15942217, UMLKSK CUI: C0265962
img GENERIF, Score=1000, Pubmed Id: 17415575, UMLKSK CUI: C0265962
img GENERIF, Score=1000, Pubmed Id: 12915442, UMLKSK CUI: C0265962
img OMIM, Score=1000, UMLKSK CUI: C0265962
img GENERIF, Score=1000, Pubmed Id: 15304086, UMLKSK CUI: C0265962
HumanTGM37053transglutaminase 3
img GENERIF, Score=1000, Pubmed Id: 15304086, UMLKSK CUI: C0265962
HumanTGM17051transglutaminase 1
img GENERIF, Score=1000, Pubmed Id: 15304086, UMLKSK CUI: C0265962
HumanKLK75650kallikrein-related peptidase 7
img GENERIF, Score=1000, Pubmed Id: 16628198, UMLKSK CUI: C0265962
HumanDSG11828desmoglein 1
img GENERIF, Score=1000, Pubmed Id: 16628198, UMLKSK CUI: C0265962
HumanDSC11823desmocollin 1
img GENERIF, Score=1000, Pubmed Id: 16628198, UMLKSK CUI: C0265962
HumanCDSN1041corneodesmosin
img GENERIF, Score=1000, Pubmed Id: 15466487, UMLKSK CUI: C0265962
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265962Netherton Syndrome0self