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Details
Link-It Detail - Human Phenotype - Abnormality of fontanelles
Debug Stats
  • ### Total Build Time: 19 ms 25.828 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 201 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=0 Completed: 0 ms rowSize= 471 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.403 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.137 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 20.271 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of fontanelles HP:0011328
Definition (1)
An abnormality of the `fontanelle` (FMA:75438).
Parents (1)
img Abnormality of the fontanelles and cranial sutures HP:0000235
Children (4)
img Large fontanelles HP:0000239
img Premature closure of fontanelles HP:0005458
img Small fontanelles HP:0005486
img Abnormality of the anterior fontanelle HP:0000236
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the fontanelles and cranial sutures HP:0000235
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the fontanelles and cranial sutures HP:0000235
Genes (103)

Species:
human : 103
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
img HP RolledUp, OMIM ID: 614541
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
HumanARX170302aristaless related homeobox
img HP RolledUp, OMIM ID: 300215
HumanBMPER168667BMP binding endothelial regulator
img HP RolledUp, OMIM ID: 608022
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
HumanCHST14113189carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
img HP RolledUp, OMIM ID: 601776
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
HumanMCPH179648microcephalin 1
img HP RolledUp, OMIM ID: 606858
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 130650
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
HumanFAM111A63901family with sequence similarity 111, member A
HumanFAM20C56975family with sequence similarity 20, member C
img HP RolledUp, OMIM ID: 259775
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
img HP RolledUp, OMIM ID: 608540
HumanPEX2655670peroxisomal biogenesis factor 26
HumanSETBP126040SET binding protein 1
HumanATP6V0A223545ATPase, H+ transporting, lysosomal V0 subunit a2
img HP RolledUp, OMIM ID: 219200
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011328Abnormality of fontanelles0self