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Details
Link-It Detail - Human Phenotype - Abnormality of facial soft tissue
Debug Stats
  • ### Total Build Time: 24 ms 23.196 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 208 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 444 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.030 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 18.198 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of facial soft tissue HP:0011799
Parents (1)
img Abnormality of the face HP:0000271
Children (6)
img Abnormality of facial musculature HP:0000301
img Facial hemangioma HP:0000329
img Abnormality of facial adipose tissue HP:0000291
img Atrophodermia vermiculata HP:0100837
img Facial edema HP:0000282
img Adenoma sebaceum HP:0009720
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the face HP:0000271
Genes (165)

Species:
human : 165
Page Size
Current 25
  Page 1 of 7
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanRSTSS100188814Chromosome 16p13.3 deletion syndrome
img HP RolledUp, OMIM ID: 610543
HumanCFTDX100188765Myopathy, congenital, with fiber-type disproportion, X-linked
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
HumanWG474168Wegener granulomatosis
img HP RolledUp, OMIM ID: 608710
HumanAGRN375790agrin
HumanSCA25338435spinocerebellar ataxia 25
HumanDOK7285489docking protein 7
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanANO5203859anoctamin 5
HumanASXL1171023additional sex combs like 1 (Drosophila)
img HP RolledUp, OMIM ID: 605039
HumanHFM170474Hemifacial microsomia
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanAMER1139285APC membrane recruitment protein 1
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
HumanMGME192667mitochondrial genome maintenance exonuclease 1
img HP RolledUp, OMIM ID: 615084
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 613559
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
HumanLMNB284823lamin B2
HumanMEGF1084466multiple EGF-like-domains 10
img HP RolledUp, OMIM ID: 614399
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011799Abnormality of facial soft tissue0self