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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>(58|66) (63|33|25)
0:   Abnormality of the lower limb [HP:0002814] <17>(31|34) (35|15|13)
- 1:   Abnormality of the foot [HP:0001760] <30>(20|24) (21|13|10)
- 1:   Abnormal lower limb bone morphology [HP:0040069] <10>(11|9) (12|5|6)
- 1:   Abnormality of the musculature of the lower limbs [HP:0001437] <6>(3|3) (5|2|2)
- 1:   Abnormality of lower limb joint [HP:0100491] <5>(10|13) (11|2|1)
- 1:   Abnormality of lower limb epiphysis morphology [HP:0006500] <4>(2|1) (2|0|0)
- 1:   Abnormality of the calf [HP:0002981] <3>(1|0) (1|1|1)
- 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)
Rhodanese/Cell cycle control phosphatase0Direct
Hedgehog/intein (Hint) domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Hedgehog/DD-peptidase0Direct
Plakin repeat0Direct
BRK domain-like0Direct
Nucleotide-diphospho-sugar transferases0.0205Inherited
Spectrin repeat0.04286Inherited
Arginase/deacetylase0.04577Inherited
Restriction endonuclease-like0.04577Inherited
HMG-box0.04918Inherited
ARID-like0.05619Inherited
Calponin-homology domain, CH-domain0.07389Inherited
SNARE fusion complex0.1109Inherited
Bromodomain0.1119Inherited
Concanavalin A-like lectins/glucanases0.132Inherited
Prefoldin0.1674Inherited
SET domain0.231Inherited
MIR domain0.2739Inherited
Intermediate filament protein, coiled coil region0.2903Inherited
FnI-like domain0.3675Inherited
Class II aaRS and biotin synthetases0.3675Inherited
Tropomyosin0.3727Inherited
HSP20-like chaperones0.3727Inherited
S15/NS1 RNA-binding domain0.456Inherited
Immunoglobulin0.6992Inherited
WD40 repeat-like0.8577Inherited
Cystine-knot cytokines0.8885Inherited
vWA-like0.9213Inherited
Voltage-gated potassium channels1Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
CalX-beta domain0Direct
Myotubularin-like phosphatases0Direct
Filamin repeat (rod domain)0Direct
BRK domain-like0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Plakin repeat0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
Exostosin0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
Histone lysine methyltransferases0.009842Inherited
VWC domain0.01924Inherited
Spectrin repeat0.03078Inherited
ZZ domain0.03382Inherited
HMG-box0.03589Inherited
RecA protein-like (ATPase-domain)0.04132Inherited
ARID domain0.04225Inherited
Calponin-homology domain, CH-domain0.06642Inherited
SNARE fusion complex0.08849Inherited
Bromodomain0.1006Inherited
MIR domain0.2357Inherited
Intermediate filament protein, coiled coil region0.2484Inherited
Hemopexin-like domain0.2848Inherited
TSP-1 type 1 repeat0.301Inherited
Tyrosine-dependent oxidoreductases0.3048Inherited
Tropomyosin0.351Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.3523Inherited
LIM domain0.409Inherited
a tRNA synthase domain0.4328Inherited
Clathrin adaptor core protein0.4328Inherited
I set domains0.4494Inherited
Myosin rod fragments0.4755Inherited
Integrin A (or I) domain0.8283Inherited


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)
BRK domain-like0Direct
CalX-like0Direct
Plakin repeat0Direct
RuvA domain 2-like0Direct
Hedgehog/intein (Hint) domain0Direct
Hedgehog/DD-peptidase0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Nucleotide-diphospho-sugar transferases0.01399Inherited
Spectrin repeat0.03101Inherited
Restriction endonuclease-like0.03339Inherited
Arginase/deacetylase0.03339Inherited
Cysteine proteinases0.03581Inherited
HMG-box0.03616Inherited
ARID-like0.04191Inherited
Calponin-homology domain, CH-domain0.05652Inherited
SNARE fusion complex0.08753Inherited
Bromodomain0.08836Inherited
Concanavalin A-like lectins/glucanases0.1064Inherited
Prefoldin0.1376Inherited
SET domain0.1957Inherited
MIR domain0.2357Inherited
Intermediate filament protein, coiled coil region0.251Inherited
Hemopexin-like domain0.2654Inherited
FnI-like domain0.3249Inherited
Class II aaRS and biotin synthetases0.3249Inherited
Tropomyosin0.3298Inherited
HSP20-like chaperones0.3298Inherited
S15/NS1 RNA-binding domain0.4121Inherited
Myosin rod fragments0.4465Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.6527Inherited
Immunoglobulin0.6604Inherited
WD40 repeat-like0.8258Inherited
Cystine-knot cytokines0.8586Inherited
vWA-like0.8936Inherited
Voltage-gated potassium channels0.9998Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    55166,51294
  • 55166 - Hedgehog/DD-peptidase
  • 51294 - Hedgehog/intein (Hint) domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.00531Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.03339Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08753Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.08995Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3166Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.5185Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.5526Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.5865Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.7981Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 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
  • 0.00531Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1376Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.1454Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1701Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.4121Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.4121Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.8512Inherited


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