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Phenotypic Abnormality (PA): Abnormal internal genitalia

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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)
+ + + + 4:   Phenotypic abnormality [HP:0000118] <25>
+ + + 3:   Abnormality of the genitourinary system [HP:0000119] <5>(74|72) (79|29|9)
+ + 2:   Abnormality of the genital system [HP:0000078] <3>(34|34) (36|10|3)
+ 1:   Abnormal reproductive system morphology [HP:0012243] <10>(27|26) (27|4|1)
0:   Abnormal internal genitalia [HP:0000812] <9>(15|17) (16|2|0)
- 1:   Abnormality of female internal genitalia [HP:0000008] <5>(14|16) (16|2|0)
- 1:   Abnormality of male internal genitalia [HP:0000022] <3>(1|2) (1|0|0)
- 1:   Gonadal dysgenesis [HP:0000133] <2>(0|0) (0|0|0)
- 1:   Gonadoblastoma [HP:0000150] <2>(2|1) (2|0|0)
- 1:   Absent internal genitalia [HP:0008702](0|0) (0|0|0)
- 1:   Agonadism [HP:0008633](0|0) (0|0|0)
- 1:   Gonadal calcification [HP:0008703](0|0) (0|0|0)
- 1:   Gonadal hypoplasia [HP:0008639](0|0) (0|0|0)
- 1:   Splenogonadal fusion [HP:0025410](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Smc hinge domain0Direct
DNA repair protein MutS, domain III0Direct
Fibrinogen coiled-coil and central regions0Direct
Nuclear receptor ligand-binding domain0.003871Inherited
NagB/RpiA/CoA transferase-like0.006594Inherited
GroEL equatorial domain-like0.01162Inherited
Fibrinogen C-terminal domain-like0.03186Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.05704Inherited
BRCT domain0.05704Inherited
Ribosomal protein S5 domain 2-like0.06841Inherited
WD40 repeat-like0.1016Inherited
CalX-like0.1515Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.2294Inherited
Trypsin-like serine proteases0.2552Inherited
Cytochrome P4500.3693Inherited


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Smc hinge domain0Direct
IF2B-like0Direct
Fibrinogen coiled-coil and central regions0Direct
DNA repair protein MutS, domain III0Direct
DNA gyrase/MutL, second domain0.0004132Direct
DNA gyrase/MutL, N-terminal domain0.0004132Direct
Nuclear receptor ligand-binding domain0.002357Inherited
Nuclear receptor0.004362Inherited
Extracellular domain of cell surface receptors0.01734Inherited
Fibrinogen C-terminal domain-like0.02381Inherited
ABC transporter ATPase domain-like0.1041Inherited
RecA protein-like (ATPase-domain)0.1195Inherited
CalX-beta domain0.1251Inherited
Eukaryotic proteases0.1461Inherited
Ngr ectodomain-like0.1508Inherited
Rhodopsin-like0.2783Inherited
RING finger domain, C3HC40.3578Inherited


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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
DNA repair protein MutS, domain III0Direct
Smc hinge domain0Direct
Fibrinogen coiled-coil and central regions0Direct
Nuclear receptor ligand-binding domain0.002339Inherited
NagB/RpiA/CoA transferase-like0.004173Inherited
GroEL equatorial domain-like0.007645Inherited
Fibrinogen C-terminal domain-like0.02272Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.04295Inherited
BRCT domain0.04295Inherited
Ribosomal protein S5 domain 2-like0.05231Inherited
WD40 repeat-like0.08038Inherited
CalX-like0.1244Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.1948Inherited
Trypsin-like serine proteases0.219Inherited
Family A G protein-coupled receptor-like0.2392Inherited
Cytochrome P4500.3278Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.000373Direct


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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