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Details
Link-It Detail - Human Phenotype - Abnormality of female external genitalia
Debug Stats
  • ### Total Build Time: 26 ms 30.275 KB
  • CONCEPT_NAME gt=2 ms Completed: 1 ms rowSize= 215 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=4 ms Completed: 4 ms rowSize= 786 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.726 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 3.966 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.428 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.034 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of female external genitalia HP:0000055
Parents (2)
img Abnormality of the female genitalia HP:0010460
img Abnormal external genitalia HP:0000811
Children (5)
img Ambiguous genitalia, female HP:0000061
img Female pseudohermaphroditism HP:0010458
img Abnormality of the labia HP:0000058
img Abnormality of the clitoris HP:0000056
img Urethral atresia, female HP:0000067
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the female genitalia HP:0010460
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the female genitalia HP:0010460
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal external genitalia HP:0000811
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormal external genitalia HP:0000811
Genes (82)

Species:
human : 82
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP TAS, OMIM ID: 158170
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP TAS, OMIM ID: 607872
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanPWAR1145624Prader Willi/Angelman region RNA 1
img HP RolledUp, OMIM ID: 176270
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP TAS, OMIM ID: 261540
HumanFAM58A92002family with sequence similarity 58, member A
img HP RolledUp, OMIM ID: 300707
HumanUBE3B89910ubiquitin protein ligase E3B
img HP RolledUp, OMIM ID: 615057
HumanFRAS180144Fraser syndrome 1
img HP RolledUp, OMIM ID: 219000
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 214100
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP TAS, OMIM ID: 214800
HumanMKS154903Meckel syndrome, type 1
img HP RolledUp, OMIM ID: 249000
HumanMAGEL254551MAGE-like 2
img HP RolledUp, OMIM ID: 176270
HumanTMCO154499transmembrane and coiled-coil domains 1
img HP TAS, OMIM ID: 614132
HumanRIPK454101receptor-interacting serine-threonine kinase 4
img HP RolledUp, OMIM ID: 263650
HumanRAB4B53916RAB4B, member RAS oncogene family
img HP RolledUp, OMIM ID: 612945
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
img HP RolledUp, OMIM ID: 269700
HumanSETBP126040SET binding protein 1
img HP TAS, OMIM ID: 269150
HumanPOC1A25886POC1 centriolar protein A
img HP RolledUp, OMIM ID: 614813
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000055Abnormality of female external genitalia0self