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Phenotypic Abnormality (PA): Abnormality of the lower limb

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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)
+ + 2:   Phenotypic abnormality [HP:0000118] <25>
+ 1:   Abnormality of limbs [HP:0040064] <8>(55|63) (58|31|22)
0:   Abnormality of the lower limb [HP:0002814] <17>(29|31) (33|13|12)
- 1:   Abnormality of the foot [HP:0001760] <30>(18|20) (19|13|10)
- 1:   Abnormality of the musculature of the lower limbs [HP:0001437] <8>(2|1) (2|0|0)
- 1:   Abnormal lower limb bone morphology [HP:0040069] <7>(9|9) (12|4|6)
- 1:   Abnormality of lower limb joint [HP:0100491] <5>(9|13) (11|3|2)
- 1:   Abnormality of lower limb epiphysis morphology [HP:0006500] <4>(2|1) (3|0|0)
- 1:   Abnormality of the calf [HP:0002981] <3>(0|0) (0|0|0)
- 1:   Abnormality of lower-limb metaphyses [HP:0006490] <2>(0|0) (0|0|0)
- 1:   Areflexia of lower limbs [HP:0002522] <2>(1|0) (1|0|0)
- 1:   Distal lower limb muscle weakness [HP:0009053] <2>(1|0) (1|0|0)
- 1:   Hyporeflexia of lower limbs [HP:0002600] <2>(1|0) (1|0|0)
- 1:   Lower limb asymmetry [HP:0100559] <2>(0|0) (0|0|0)
- 1:   Externally rotated/abducted legs [HP:0003783] <1>(0|0) (0|0|0)
- 1:   Hypertrophy of the lower limb [HP:0010496] <1>(0|0) (0|0|0)
- 1:   Pedal edema [HP:0010741] <1>(0|0) (0|0|0)
- 1:   Amniotic constriction rings of legs [HP:0010495](0|0) (0|0|0)
- 1:   Rickets of the lower limbs [HP:0006463](0|0) (0|0|0)
- 1:   Sirenomelia [HP:0010497](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Hedgehog/intein (Hint) domain0Direct
Smc hinge domain0Direct
RuvA domain 2-like0Direct
Hedgehog/DD-peptidase0Direct
BRK domain-like0Direct
Plakin repeat0Direct
Nucleotide-diphospho-sugar transferases0.00001152Direct
Spectrin repeat0.0414Inherited
Restriction endonuclease-like0.0448Inherited
Arginase/deacetylase0.0448Inherited
HSP20-like chaperones0.05498Inherited
ARID-like0.05498Inherited
Prefoldin0.1044Inherited
SET domain0.107Inherited
SNARE fusion complex0.1091Inherited
Bromodomain0.13Inherited
MIR domain0.1868Inherited
Tudor/PWWP/MBT0.1888Inherited
Concanavalin A-like lectins/glucanases0.262Inherited
Intermediate filament protein, coiled coil region0.2842Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.3019Inherited
Class II aaRS and biotin synthetases0.3953Inherited
Tropomyosin0.3972Inherited
FnI-like domain0.4027Inherited
Immunoglobulin0.6227Inherited
WD40 repeat-like0.7532Inherited
Cystine-knot cytokines0.832Inherited
vWA-like0.9434Inherited
SCOP hierarchy in SUPERFAMILY0.9659Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
BRK domain-like0Direct
Myotubularin-like phosphatases0Direct
Smc hinge domain0Direct
Filamin repeat (rod domain)0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
Exostosin0Direct
Plakin repeat0Direct
Histone deacetylase, HDAC0Direct
Histone lysine methyltransferases0.00993Inherited
RecA protein-like (ATPase-domain)0.02122Inherited
Calponin-homology domain, CH-domain0.02448Inherited
Spectrin repeat0.03112Inherited
ZZ domain0.03353Inherited
ARID domain0.04231Inherited
SNARE fusion complex0.08942Inherited
Bromodomain0.1174Inherited
MIR domain0.1591Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.2108Inherited
Intermediate filament protein, coiled coil region0.2538Inherited
Tyrosine-dependent oxidoreductases0.3084Inherited
Hemopexin-like domain0.3085Inherited
TSP-1 type 1 repeat0.3359Inherited
I set domains0.3739Inherited
Tropomyosin0.3755Inherited
Clathrin adaptor core protein0.456Inherited
Tandem AAA-ATPase domain0.4573Inherited
Myosin rod fragments0.5095Inherited
Integrin A (or I) domain0.8572Inherited


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)
Plakin repeat0Direct
Smc hinge domain0Direct
Hedgehog/DD-peptidase0Direct
RuvA domain 2-like0Direct
BRK domain-like0Direct
Hedgehog/intein (Hint) domain0Direct
Nucleotide-diphospho-sugar transferases0.000005099Direct
Calponin-homology domain, CH-domain0.02387Inherited
Spectrin repeat0.03034Inherited
Arginase/deacetylase0.03304Inherited
Restriction endonuclease-like0.03304Inherited
HSP20-like chaperones0.04139Inherited
ARID-like0.04139Inherited
Prefoldin0.08297Inherited
SET domain0.08504Inherited
SNARE fusion complex0.08696Inherited
Bromodomain0.1052Inherited
MIR domain0.1559Inherited
Tudor/PWWP/MBT0.1579Inherited
Concanavalin A-like lectins/glucanases0.2257Inherited
Intermediate filament protein, coiled coil region0.2468Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.2639Inherited
Hemopexin-like domain0.2898Inherited
TSP-1 type 1 repeat0.3102Inherited
Class II aaRS and biotin synthetases0.3539Inherited
Tropomyosin0.3559Inherited
FnI-like domain0.3611Inherited
Myosin rod fragments0.4818Inherited
Immunoglobulin0.5817Inherited
WD40 repeat-like0.7173Inherited
E set domains0.797Inherited
Cystine-knot cytokines0.7995Inherited
vWA-like0.9171Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
55166,51294
  • 55166 - Hedgehog/DD-peptidase
  • 51294 - Hedgehog/intein (Hint) domain
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    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
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.01334Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.03304Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08696Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.08874Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4128Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.5488Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.6478Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.8281Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    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
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.01334Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.1438Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.237Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.4354Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.4354Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.5525Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.8751Inherited


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