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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|65) (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)
Plakin repeat0Direct
Hedgehog/intein (Hint) domain0Direct
Hedgehog/DD-peptidase0Direct
BRK domain-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Nucleotide-diphospho-sugar transferases0.02041Inherited
Spectrin repeat0.04276Inherited
Restriction endonuclease-like0.04565Inherited
Arginase/deacetylase0.04565Inherited
HMG-box0.04897Inherited
ARID-like0.05604Inherited
Calponin-homology domain, CH-domain0.07368Inherited
SNARE fusion complex0.1107Inherited
Bromodomain0.1116Inherited
Concanavalin A-like lectins/glucanases0.1316Inherited
Prefoldin0.1671Inherited
SET domain0.2305Inherited
MIR domain0.2735Inherited
Intermediate filament protein, coiled coil region0.2895Inherited
FnI-like domain0.3668Inherited
Class II aaRS and biotin synthetases0.3668Inherited
HSP20-like chaperones0.3724Inherited
Tropomyosin0.3724Inherited
S15/NS1 RNA-binding domain0.4555Inherited
Immunoglobulin0.6975Inherited
WD40 repeat-like0.8573Inherited
Cystine-knot cytokines0.8882Inherited
vWA-like0.921Inherited
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)
Filamin repeat (rod domain)0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Plakin repeat0Direct
Exostosin0Direct
XPF/Rad1/Mus81 nuclease0Direct
Myotubularin-like phosphatases0Direct
Histone deacetylase, HDAC0Direct
BRK domain-like0Direct
CalX-beta domain0Direct
Histone lysine methyltransferases0.009793Inherited
VWC domain0.01916Inherited
Spectrin repeat0.03066Inherited
ZZ domain0.03372Inherited
HMG-box0.03569Inherited
RecA protein-like (ATPase-domain)0.04114Inherited
ARID domain0.0421Inherited
Calponin-homology domain, CH-domain0.06618Inherited
SNARE fusion complex0.08823Inherited
Bromodomain0.1004Inherited
MIR domain0.2352Inherited
Intermediate filament protein, coiled coil region0.2474Inherited
Hemopexin-like domain0.2845Inherited
TSP-1 type 1 repeat0.3008Inherited
Tyrosine-dependent oxidoreductases0.304Inherited
Tropomyosin0.3506Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.3518Inherited
LIM domain0.4083Inherited
a tRNA synthase domain0.4325Inherited
Clathrin adaptor core protein0.4325Inherited
I set domains0.448Inherited
Myosin rod fragments0.4749Inherited
Integrin A (or I) domain0.8279Inherited


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
Hedgehog/intein (Hint) domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Hedgehog/DD-peptidase0Direct
Rhodanese/Cell cycle control phosphatase0Direct
BRK domain-like0Direct
Nucleotide-diphospho-sugar transferases0.01394Inherited
Spectrin repeat0.03093Inherited
Arginase/deacetylase0.03332Inherited
Restriction endonuclease-like0.03332Inherited
Cysteine proteinases0.0357Inherited
HMG-box0.03602Inherited
ARID-like0.0418Inherited
Calponin-homology domain, CH-domain0.05638Inherited
SNARE fusion complex0.08735Inherited
Bromodomain0.08815Inherited
Concanavalin A-like lectins/glucanases0.1061Inherited
Prefoldin0.1374Inherited
SET domain0.1953Inherited
MIR domain0.2353Inherited
Intermediate filament protein, coiled coil region0.2502Inherited
Hemopexin-like domain0.2651Inherited
Class II aaRS and biotin synthetases0.3243Inherited
FnI-like domain0.3243Inherited
HSP20-like chaperones0.3296Inherited
Tropomyosin0.3296Inherited
S15/NS1 RNA-binding domain0.4117Inherited
Myosin rod fragments0.446Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.6517Inherited
Immunoglobulin0.6587Inherited
WD40 repeat-like0.8253Inherited
Cystine-knot cytokines0.8583Inherited
vWA-like0.8933Inherited
Voltage-gated potassium channels0.9997Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
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
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    55166,51294
  • 55166 - Hedgehog/DD-peptidase
  • 51294 - Hedgehog/intein (Hint) domain
  • 0Direct
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.005293Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.03332Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08735Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.08967Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3157Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.518Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.552Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.5858Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.7976Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57581,57184,57581
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys 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
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.005293Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1374Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.1452Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1697Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.4117Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.4117Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.851Inherited


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