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Details
Link-It Detail - Human Phenotype - Abnormal blistering of the skin
Debug Stats
  • ### Total Build Time: 30 ms 33.970 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 278 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 777 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.037 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.023 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 26.508 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal blistering of the skin HP:0008066
Definition (1)
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Parents (2)
img Abnormality of skin morphology HP:0011121
img Abnormality of the skin HP:0000951
Children (6)
img Blistering, generalized HP:0007467
img Palmoplantar blistering HP:0007446
img Blisters esp on palms, soles, perioral, trunk and neck HP:0007496
img Skin bulla HP:0200038
img Oral mucusa blisters HP:0200097
img Junctional split HP:0003341
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of skin morphology HP:0011121
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of skin morphology HP:0011121
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
Genes (40)

Species:
human : 40
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP TAS, OMIM ID: 607872
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
img HP TAS, OMIM ID: 234500
HumanGJB4127534gap junction protein, beta 4, 30.3kDa
img HP TAS, OMIM ID: 133200
HumanSLC39A455630solute carrier family 39 (zinc transporter), member 4
img HP TAS, OMIM ID: 201100
HumanFERMT155612fermitin family member 1
img HP TAS, OMIM ID: 173650
HumanATP2C127032ATPase, Ca++ transporting, type 2C, member 1
img HP TAS, OMIM ID: 169600
HumanLPIN29663lipin 2
img HP TAS, OMIM ID: 609628
HumanRECQL49401RecQ protein-like 4
img HP TAS, OMIM ID: 268400
HumanIKBKG8517inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
img HP TAS, OMIM ID: 308300
HumanPPKB8084palmoplantar keratoderma, Bothnia type
img HP TAS, OMIM ID: 600231
HumanUROS7390uroporphyrinogen III synthase
img HP TAS, OMIM ID: 263700
HumanTAT6898tyrosine aminotransferase
img HP TAS, OMIM ID: 276600
HumanSTAT36774signal transducer and activator of transcription 3 (acute-phase response factor)
img HP TAS, OMIM ID: 147060
HumanPPOX5498protoporphyrinogen oxidase
img HP TAS, OMIM ID: 176200
HumanPLEC5339plectin
img HP TAS, OMIM ID: 226730
img HP TAS, OMIM ID: 612138
img HP TAS, OMIM ID: 226670
img HP TAS, OMIM ID: 131950
HumanPKP15317plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
img HP TAS, OMIM ID: 604536
HumanMMP14312matrix metallopeptidase 1 (interstitial collagenase)
img HP TAS, OMIM ID: 226600
HumanLAMC23918laminin, gamma 2
img HP RolledUp, OMIM ID: 226700
img HP TAS, OMIM ID: 226650
HumanLAMB33914laminin, beta 3
img HP TAS, OMIM ID: 226650
img HP RolledUp, OMIM ID: 226700
HumanLAMA33909laminin, alpha 3
img HP TAS, OMIM ID: 226650
img HP RolledUp, OMIM ID: 226700
HumanKRT143861keratin 14
img HP TAS, OMIM ID: 131900
img HP TAS, OMIM ID: 131800
img HP TAS, OMIM ID: 601001
img HP TAS, OMIM ID: 131760
HumanKRT103858keratin 10
img HP TAS, OMIM ID: 113800
HumanKRT53852keratin 5
img HP TAS, OMIM ID: 609352
img HP TAS, OMIM ID: 131760
img HP TAS, OMIM ID: 131900
img HP TAS, OMIM ID: 131960
img HP TAS, OMIM ID: 131800
HumanKRT23849keratin 2
img HP TAS, OMIM ID: 146800
HumanKRT13848keratin 1
img HP TAS, OMIM ID: 113800
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0008066Abnormal blistering of the skin0self