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Details
Link-It Detail - Disease - Ichthyosis, Lamellar
Debug Stats
  • ### Total Build Time: 168 ms 36.562 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 511 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=24 ms Completed: 24 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 6.846 KB
  • CONCEPT_RELATIONSHIPS gt=91 ms Completed: 91 ms rowSize= 13.951 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 12.944 KB
  • CONCEPT_XREFS gt=17 ms Completed: 17 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ichthyosis, Lamellar C0079154
Definition (1)
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Ichthyosiform Erythroderma, Congenital C0079583
Ancestral Roots
RootRoot Plus OneDepthParent
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 (27)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 3
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 9
associated_​with : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 4
location_​of : 2
mapped_​to : 5
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_CHEM18img ATP-Binding Cassette Transporters C0242738
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_CHEM13img Transglutaminases C0033679
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_CHEM9img ATP-Binding Cassette Transporters C0242738
DISO_to_PHYS9img Mutation C0026882
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANATlocation_ofimg Entire fetus C1305737
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary system C0037267
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOisaimg Autosomal dominant lamellar ichthyosis C0432304
DISO_to_DISOmapped_toimg Autosomal recessive KID (keratitis, ichthyosis, deafness) syndrome C1275089
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOpermuted_term_ofimg Congenital Nonbullous Ichthyosiform Erythroderma C0079154
DISO_to_DISOused_forimg Congenital ichthyosis C0020758
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOassociated_withimg Dehydrated structure C0011174
DISO_to_DISOisaimg Erythrodermic lamellar ichthyosis C0432302
DISO_to_DISOmapped_toimg Harlequin type ichthyosis C0598226
DISO_to_DISOassociated_withimg Hyperkeratosis C0870082
DISO_to_DISOmapped_toimg ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 C1855792
DISO_to_DISOmapped_toimg ICHTHYOSIS, LAMELLAR, 3 C1858142
DISO_to_DISOisaimg Lamellar ichthyosis (limited type) C1275086
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img OMIM, Score=1000, UMLKSK CUI: C0079154
HumanALOXE359344arachidonate lipoxygenase 3
img GENERIF, Score=1000, Pubmed Id: 15629692, UMLKSK CUI: C0079154
img GENERIF, Score=1000, Pubmed Id: 11773004, UMLKSK CUI: C0079154
img OMIM, Score=1000, UMLKSK CUI: C0079154
HumanABHD551099abhydrolase domain containing 5
img OMIM, Score=1000, UMLKSK CUI: C0079154
img OMIM, Score=1000, UMLKSK CUI: C0079154
HumanABCA1226154ATP-binding cassette, sub-family A (ABC1), member 12
img GENERIF, Score=723, Pubmed Id: 17508018, UMLKSK CUI: C0079154
img OMIM, Score=1000, UMLKSK CUI: C0079154
img GENERIF, Score=861, Pubmed Id: 12915478, UMLKSK CUI: C0079154
HumanTGM17051transglutaminase 1
img GENERIF, Score=1000, Pubmed Id: 17024410, UMLKSK CUI: C0079154
img OMIM, Score=1000, UMLKSK CUI: C0079154
img GAD, Score=1000, Pubmed Id: 10694685, UMLKSK CUI: C0079154
HumanERCC32071excision repair cross-complementing rodent repair deficiency, complementation group 3
img OMIM, Score=1000, UMLKSK CUI: C0079154
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img OMIM, Score=1000, UMLKSK CUI: C0079154
HumanALOX12B242arachidonate 12-lipoxygenase, 12R type
img GENERIF, Score=1000, Pubmed Id: 15629692, UMLKSK CUI: C0079154
img OMIM, Score=1000, UMLKSK CUI: C0079154
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079154Ichthyosis, Lamellar0self