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Phenotypic Abnormality (PA): Abnormal lower limb bone morphology

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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)
+ + + 3:   Abnormality of the skeletal system [HP:0000924] <7>(88|98) (93|54|34)
+ + + 3:   Abnormality of skeletal morphology [HP:0011842] <17>(86|89) (90|52|33)
+ + + 3:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of limbs [HP:0040064] <8>(58|65) (63|33|25)
+ + 2:   Abnormal appendicular skeleton morphology [HP:0011844] <4>(35|42) (39|23|23)
+ + 2:   Abnormality of limb bone [HP:0040068] <1>(29|31) (33|18|20)
+ 1:   Abnormality of limb bone morphology [HP:0002813] <13>(29|31) (32|18|20)
+ 1:   Abnormality of the lower limb [HP:0002814] <17>(31|34) (35|15|13)
0:   Abnormal lower limb bone morphology [HP:0040069] <10>(11|9) (12|5|6)
- 1:   Abnormal metatarsal morphology [HP:0001832] <23>(0|0) (0|0|0)
- 1:   Abnormality of femur morphology [HP:0002823] <18>(3|4) (4|0|0)
- 1:   Abnormality of tibia morphology [HP:0002992] <13>(1|0) (1|0|0)
- 1:   Abnormality of the tarsal bones [HP:0001850] <12>(1|1) (1|1|1)
- 1:   Abnormality of fibula morphology [HP:0002991] <10>(0|0) (0|1|1)
- 1:   Aplasia/hypoplasia involving bones of the lower limbs [HP:0006493] <10>(5|5) (6|3|4)
- 1:   Broad phalanx of the toes [HP:0010174] <8>(0|0) (0|0|0)
- 1:   Duplication involving bones of the feet [HP:0009136] <3>(1|0) (1|0|0)
- 1:   Synostosis involving bones of the lower limbs [HP:0009138] <3>(1|0) (1|0|0)
- 1:   Osteolysis involving bones of the lower limbs [HP:0009139] <2>(0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
RuvA domain 2-like0Direct
ARID-like0.002818Inherited
Arginase/deacetylase0.00376Inherited
WD40 repeat-like0.02941Inherited
BRK domain-like0.06224Inherited
Cystine-knot cytokines0.1256Inherited
HMG-box0.1342Inherited
FnI-like domain0.2057Inherited
Voltage-gated potassium channels0.4531Inherited
Concanavalin A-like lectins/glucanases0.4817Inherited
Immunoglobulin0.6817Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Exostosin0Direct
ARID domain0.00155Inherited
Hemopexin-like domain0.002052Inherited
BRK domain-like0.04751Inherited
HMG-box0.1079Inherited
TSP-1 type 1 repeat0.2375Inherited
I set domains0.288Inherited


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 (Single) FDR (all) Annotation (direct or inherited)
RuvA domain 2-like0Direct
ARID-like0.001626Inherited
Hemopexin-like domain0.002171Inherited
Arginase/deacetylase0.002224Inherited
WD40 repeat-like0.02064Inherited
BRK domain-like0.0469Inherited
Cystine-knot cytokines0.1007Inherited
HMG-box0.1084Inherited
FnI-like domain0.1726Inherited
Voltage-gated potassium channels0.4093Inherited
Concanavalin A-like lectins/glucanases0.4379Inherited
Immunoglobulin0.6421Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.067Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1188Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4495Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57184,57581
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.0469Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1151Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1188Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3454Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
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