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Details
Link-It Detail - Human Phenotype - Abnormality of skin physiology
Debug Stats
  • ### Total Build Time: 28 ms 28.087 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 205 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 225 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= 778 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 770 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.092 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 22.895 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.024 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of skin physiology HP:0011122
Definition (1)
Any abnormality of the physiological function of the `skin` (FMA:7163).
Parents (2)
img Generalized abnormality of skin HP:0011354
img Abnormality of the skin HP:0000951
Children (2)
img Pruritus HP:0000989
img Inflammatory abnormality of the skin HP:0011123
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Generalized abnormality of skin HP:0011354
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
Genes (219)

Species:
human : 219
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanKONDS100653373Kondoh syndrome
img HP RolledUp, OMIM ID: 606242
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanMRT5100188831mental retardation, non-syndromic, autosomal recessive, 5
img HP RolledUp, OMIM ID: 611091
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanNCF1653361neutrophil cytosolic factor 1
img HP RolledUp, OMIM ID: 233700
HumanPSORS10503613psoriasis susceptibility 10
img HP RolledUp, OMIM ID: 177900
HumanWG474168Wegener granulomatosis
img HP RolledUp, OMIM ID: 608710
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanPSORS9359825psoriasis susceptibility 9
img HP RolledUp, OMIM ID: 177900
HumanNIPAL4348938NIPA-like domain containing 4
img HP RolledUp, OMIM ID: 612281
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
img HP RolledUp, OMIM ID: 234500
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanTRPV3162514transient receptor potential cation channel, subfamily V, member 3
img HP RolledUp, OMIM ID: 614594
HumanIL23R149233interleukin 23 receptor
img HP RolledUp, OMIM ID: 177900
HumanDSG4147409desmoglein 4
img HP RolledUp, OMIM ID: 607903
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanTMC8147138transmembrane channel-like 8
img HP RolledUp, OMIM ID: 226400
HumanIL31RA133396interleukin 31 receptor A
img HP RolledUp, OMIM ID: 613955
HumanEDARADD128178EDAR-associated death domain
img HP RolledUp, OMIM ID: 129490
HumanGJB4127534gap junction protein, beta 4, 30.3kDa
img HP RolledUp, OMIM ID: 133200
HumanCYP4F22126410cytochrome P450, family 4, subfamily F, polypeptide 22
img HP RolledUp, OMIM ID: 604777
HumanATOD5117188Dermatitis, atopic, 5
img HP RolledUp, OMIM ID: 603165
HumanATOD3117187Dermatitis, atopic, 3
img HP RolledUp, OMIM ID: 603165
HumanCANDF1117084candidiasis, familial 1
img HP RolledUp, OMIM ID: 114580
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011122Abnormality of skin physiology0self