SUPERFAMILY 1.75 HMM library and genome assignments server

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Phenotypic Abnormality (PA): Bicuspid aortic valve

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + + + + + + 7:   Phenotypic abnormality [HP:0000118] <25>
+ + + + + + 6:   Abnormality of the cardiovascular system [HP:0001626] <5>(60|88) (73|43|30)
+ + + + + 5:   Abnormality of cardiovascular system morphology [HP:0030680] <3>(29|42) (31|19|20)
+ + + + 4:   Abnormal heart morphology [HP:0001627] <16>(20|35) (24|16|20)
+ + + 3:   Abnormal heart valve morphology [HP:0001654] <4>(5|11) (6|10|11)
+ + 2:   Abnormal aortic valve morphology [HP:0001646] <5>(1|5) (2|6|5)
+ 1:   Abnormal aortic valve cusp morphology [HP:0031567] <5>(0|2) (0|4|5)
0:   Bicuspid aortic valve [HP:0001647] <3>(0|2) (0|4|5)
- 1:   Single raphe bicuspid aortic valve [HP:0031118] <3>(0|0) (0|0|0)
- 1:   Purely bicuspid aortic valve [HP:0031117](0|0) (0|0|0)
- 1:   Two-raphe bicuspid aortic valve [HP:0031122](0|0) (0|0|0)


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Erythroid transcription factor GATA-10.00006326Direct
Growth factor receptor domain0.0008202Direct


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.00004847Direct
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.0004631Direct
    57184,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.000535Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.000535Direct

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.0000006658Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.000001734Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.00005036Direct
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.00009456Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.0003763Direct