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Details
Link-It Detail - Disease - Aplasia Cutis Congenita
Debug Stats
  • ### Total Build Time: 12 ms 18.365 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 344 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=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 11.001 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 5.465 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aplasia Cutis Congenita C0282160
Definition (1)
Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.
Relationships (23)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 21


Relationships:
alias_​of : 1
associated_​with : 1
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 14
location_​of : 1
manifestation_​of : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOisaimg Adams Oliver syndrome C0265268
DISO_to_DISOexpanded_form_ofimg Aplasia Cutis Congenita C0282160
DISO_to_DISOisaimg Aplasia cutis congenita associated with fetus papyraceus (Type 5) C1274882
DISO_to_DISOisaimg Aplasia cutis congenita due to teratogenic drug (Type 7) C1274884
DISO_to_DISOisaimg Aplasia cutis congenita due to underlying malformation (Type 4) C1274881
DISO_to_DISOisaimg Aplasia cutis congenita following intra-uterine infection (Type 8) C1274885
DISO_to_DISOisaimg Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) C1274883
DISO_to_DISOmanifestation_ofimg Aplasia cutis congenita over the scalp vertex C1970112
DISO_to_DISOisaimg Aplasia cutis congenita secondary to malformation syndrome (Type 9) C1274886
DISO_to_DISOisaimg Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) C1275071
DISO_to_DISOisaimg Aplasia cutis in Johanson-Blizzard syndrome C1275075
DISO_to_DISOisaimg Aplasia cutis in Trisomy 13 syndrome C1275070
DISO_to_DISOmanifestation_ofimg Circumscribed transparent membrane on the scalp vertex may be ulcerated (other areas of the body are rarely involved) C1970114
DISO_to_DISOassociated_withimg Congenital absence C0332907
DISO_to_DISOisaimg Congenital absence of skin on scalp C0406825
DISO_to_DISOisaimg Congenital absence of skin on scalp with epidermal naevi C0473588
DISO_to_DISOalias_ofimg Congenital defect of skull and scalp C2931779
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOmanifestation_ofimg Decreased ossification underlying the skin defect (in 20 to 30% of patients) C1970113
DISO_to_DISOisaimg Dominant dystrophic epidermolysis bullosa with absence of skin C0268371
DISO_to_DISOisaimg Total congenital alopecia C0432341
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0282160
HumanITGB43691integrin, beta 4
img GENERIF, Score=1000, Pubmed Id: 18348258, UMLKSK CUI: C0282160
img OMIM, Score=1000, UMLKSK CUI: C0282160
HumanITGA63655integrin, alpha 6
img OMIM, Score=1000, UMLKSK CUI: C0282160
HumanHCCS3052holocytochrome c synthase
img OMIM, Score=972, UMLKSK CUI: C0282160
HumanDSP1832desmoplakin
img OMIM, Score=1000, UMLKSK CUI: C0282160
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0282160Aplasia Cutis Congenita0self