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Details
Link-It Detail - Human Phenotype - Abnormality of female internal genitalia
Debug Stats
  • ### Total Build Time: 36 ms 30.985 KB
  • CONCEPT_NAME gt=1 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=3 ms Completed: 3 ms rowSize= 786 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.063 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 3.966 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 22.800 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.034 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of female internal genitalia HP:0000008
Parents (2)
img Abnormal internal genitalia HP:0000812
img Abnormality of the female genitalia HP:0010460
Children (6)
img Abnormality of the menstrual cycle HP:0000140
img Abnormality of the vagina HP:0000142
img Abnormality of the ovary HP:0000137
img Hypoplasia of the fallopian tube HP:0008697
img Abnormality of the fallopian tube HP:0011027
img Abnormality of the uterus HP:0000130
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormal internal genitalia HP:0000812
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal internal genitalia HP:0000812
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the female genitalia HP:0010460
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the female genitalia HP:0010460
Genes (262)

Species:
human : 262
Page Size
Current 25
  Page 1 of 11
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanDFNB81100653390deafness, autosomal recessive 81
img HP RolledUp, OMIM ID: 614129
HumanDEL11P13100528024Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
img HP RolledUp, OMIM ID: 194072
HumanCRCS10100271691Colorectal cancer, susceptibility to, 10
img HP RolledUp, OMIM ID: 612591
HumanIBD25100270799Inflammatory bowel disease-25
img HP RolledUp, OMIM ID: 612567
HumanENDO1100188863Endometriosis, susceptibility to, 1
img HP RolledUp, OMIM ID: 131200
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanKTWS791122Klippel-Trenaunay-Weber syndrome
img HP RolledUp, OMIM ID: 149000
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanCDAGS574043Craniosynostosis, anal anomalies, and porokeratosis syndrome
img HP RolledUp, OMIM ID: 603116
HumanGDF6392255growth differentiation factor 6
img HP TAS, OMIM ID: 122600
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanFIGLA344018folliculogenesis specific basic helix-loop-helix
img HP RolledUp, OMIM ID: 612310
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanFLCN201163folliculin
HumanNLRP7199713NLR family, pyrin domain containing 7
img HP RolledUp, OMIM ID: 231090
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP TAS, OMIM ID: 243800
HumanBBS12166379Bardet-Biedl syndrome 12
img HP RolledUp, OMIM ID: 209900
HumanFREM1158326FRAS1 related extracellular matrix 1
img HP RolledUp, OMIM ID: 608980
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
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000008Abnormality of female internal genitalia0self