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Phenotypic Abnormality (PA): Abnormality of limbs

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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)
+ 1:   Phenotypic abnormality [HP:0000118] <25>
0:   Abnormality of limbs [HP:0040064] <8>(58|66) (63|33|25)
- 1:   Abnormality of the upper limb [HP:0002817] <20>(29|35) (35|17|16)
- 1:   Abnormality of the lower limb [HP:0002814] <17>(31|34) (35|15|13)
- 1:   Abnormality of the musculature of the limbs [HP:0009127] <10>(12|11) (16|5|3)
- 1:   Aplasia/hypoplasia of the extremities [HP:0009815] <6>(8|10) (10|3|5)
- 1:   Autoamputation [HP:0001218] <2>(0|0) (0|0|0)
- 1:   Hemihypertrophy [HP:0001528] <2>(0|0) (0|0|0)
- 1:   Abnormality of limb bone [HP:0040068] <1>(29|32) (33|18|20)
- 1:   Limb fasciculations [HP:0007289](0|0) (0|0|0)


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

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Rhodanese/Cell cycle control phosphatase0Direct
ADC-like0Direct
Hedgehog/intein (Hint) domain0Direct
TB module/8-cys domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Hedgehog/DD-peptidase0Direct
Plakin repeat0Direct
Helical domain of Sec23/240Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Smc hinge domain0Direct
Zn-finger domain of Sec23/240Direct
CCCH zinc finger0Direct
GroEL equatorial domain-like0Direct
BRK domain-like0Direct
Hect, E3 ligase catalytic domain0.002316Inherited
Actin-like ATPase domain0.002893Inherited
Nucleotide-diphospho-sugar transferases0.00348Inherited
SET domain0.01608Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01732Inherited
Myosin rod fragments0.01816Inherited
WD40 repeat-like0.01985Inherited
HSP20-like chaperones0.03242Inherited
Bromodomain0.0395Inherited
S15/NS1 RNA-binding domain0.05857Inherited
FnI-like domain0.05965Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.06976Inherited
Nicotinic receptor ligand binding domain-like0.06976Inherited
Calponin-homology domain, CH-domain0.07313Inherited
Arginase/deacetylase0.1053Inherited
Restriction endonuclease-like0.1053Inherited
Insulin-like0.1053Inherited
Hemopexin-like domain0.1079Inherited
Histone-fold0.1445Inherited
ARID-like0.1445Inherited
EGF/Laminin0.1568Inherited
Tropomyosin0.1652Inherited
Class II aaRS ABD-related0.1652Inherited
PGBD-like0.1652Inherited
Cystine-knot cytokines0.1795Inherited
Spectrin repeat0.1889Inherited
Metalloproteases ("zincins"), catalytic domain0.2221Inherited
SNARE fusion complex0.229Inherited
Multidrug efflux transporter AcrB transmembrane domain0.229Inherited
HMG-box0.2416Inherited
Concanavalin A-like lectins/glucanases0.2984Inherited
vWA-like0.3272Inherited
Prefoldin0.3564Inherited
HLH, helix-loop-helix DNA-binding domain0.4209Inherited
Class II aaRS and biotin synthetases0.4371Inherited
MIR domain0.4844Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.5365Inherited
Intermediate filament protein, coiled coil region0.641Inherited
Voltage-gated potassium channels0.6897Inherited
p53-like transcription factors0.7513Inherited
Immunoglobulin0.8959Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
Zn-finger domain of Sec23/240Direct
CalX-beta domain0Direct
Proteasome subunits0Direct
Myotubularin-like phosphatases0Direct
Filamin repeat (rod domain)0Direct
Protein serine/threonine phosphatase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Helical domain of Sec23/240Direct
p120GAP domain-like0Direct
BRK domain-like0Direct
SWIRM domain0Direct
Notch domain0Direct
Smc hinge domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Regulator of chromosome condensation RCC10Direct
Plakin repeat0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
Exostosin0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
TB module/8-cys domain0Direct
beta-sandwich domain of Sec23/240Direct
Trunk domain of Sec23/240Direct
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
Hect, E3 ligase catalytic domain0.001174Inherited
Actin/HSP700.00249Inherited
Erythroid transcription factor GATA-10.01073Inherited
Myosin rod fragments0.0111Inherited
PHD domain0.01428Inherited
Bromodomain0.02536Inherited
Tetratricopeptide repeat (TPR)0.0354Inherited
a tRNA synthase domain0.04195Inherited
Clathrin adaptor core protein0.04195Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.04798Inherited
Nicotinic receptor ligand binding domain-like0.04798Inherited
Histone lysine methyltransferases0.04889Inherited
Calponin-homology domain, CH-domain0.05021Inherited
VWC domain0.06576Inherited
Transforming growth factor (TGF)-beta0.07124Inherited
Growth factor receptor domain0.0754Inherited
ZZ domain0.0805Inherited
Insulin-like0.0805Inherited
Hemopexin-like domain0.08065Inherited
Laminin-type module0.09657Inherited
ARID domain0.1124Inherited
Matrix metalloproteases, catalytic domain0.129Inherited
Tropomyosin0.129Inherited
Anticodon-binding domain of Class II aaRS0.129Inherited
MMP N-terminal domain0.129Inherited
RecA protein-like (ATPase-domain)0.1384Inherited
Integrin A (or I) domain0.1455Inherited
Spectrin repeat0.1461Inherited
Classic zinc finger, C2H20.1463Inherited
SNARE fusion complex0.1879Inherited
Fibronectin type II module0.1879Inherited
TSP-1 type 1 repeat0.1906Inherited
HMG-box0.1906Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.195Inherited
HLH, helix-loop-helix DNA-binding domain0.351Inherited
Homeodomain0.4268Inherited
MIR domain0.4306Inherited
LIM domain0.4776Inherited
Tyrosine-dependent oxidoreductases0.4788Inherited
Intermediate filament protein, coiled coil region0.5726Inherited
I set domains0.5882Inherited


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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)
Smc hinge domain0Direct
BRK domain-like0Direct
CalX-like0Direct
Notch domain0Direct
Plakin repeat0Direct
RuvA domain 2-like0Direct
TB module/8-cys domain0Direct
Helical domain of Sec23/240Direct
Hedgehog/intein (Hint) domain0Direct
Hedgehog/DD-peptidase0Direct
Zn-finger domain of Sec23/240Direct
GroEL equatorial domain-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
CCCH zinc finger0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Hect, E3 ligase catalytic domain0.001313Inherited
Actin-like ATPase domain0.001673Inherited
Nucleotide-diphospho-sugar transferases0.002044Inherited
SET domain0.01074Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01163Inherited
Myosin rod fragments0.01222Inherited
WD40 repeat-like0.01349Inherited
Protein kinase-like (PK-like)0.02286Inherited
HSP20-like chaperones0.02289Inherited
Bromodomain0.02839Inherited
S15/NS1 RNA-binding domain0.04384Inherited
FnI-like domain0.04471Inherited
Nicotinic receptor ligand binding domain-like0.05313Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.05313Inherited
Calponin-homology domain, CH-domain0.05591Inherited
TPR-like0.08024Inherited
Insulin-like0.08299Inherited
Restriction endonuclease-like0.08299Inherited
Arginase/deacetylase0.08299Inherited
Hemopexin-like domain0.0851Inherited
Cysteine proteinases0.1147Inherited
Histone-fold0.1177Inherited
ARID-like0.1177Inherited
EGF/Laminin0.1283Inherited
Tropomyosin0.1356Inherited
Class II aaRS ABD-related0.1356Inherited
PGBD-like0.1356Inherited
Cystine-knot cytokines0.1484Inherited
Spectrin repeat0.157Inherited
Metalloproteases ("zincins"), catalytic domain0.1875Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1939Inherited
SNARE fusion complex0.1939Inherited
HMG-box0.2055Inherited
Concanavalin A-like lectins/glucanases0.2586Inherited
vWA-like0.2862Inherited
Prefoldin0.3143Inherited
HLH, helix-loop-helix DNA-binding domain0.3771Inherited
Class II aaRS and biotin synthetases0.3932Inherited
MIR domain0.4408Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.4924Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5196Inherited
Intermediate filament protein, coiled coil region0.6Inherited
Voltage-gated potassium channels0.6507Inherited
p53-like transcription factors0.7141Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.7322Inherited
Immunoglobulin0.8662Inherited

(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
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    81383,52047
  • 81383 - F-box domain
  • 52047 - RNI-like
  • 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
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.01849Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.02289Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.02387Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.04653Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.05313Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.06907Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.07777Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.08299Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1177Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1356Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1939Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.2596Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2919Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3499Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.5784Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.8007Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    81995,81811,82754
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.006618Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.02289Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.09974Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1356Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.3143Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.3291Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.3845Inherited


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