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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>(57|64) (59|32|25)
- 1:   Abnormality of the upper limb [HP:0002817] <20>(26|29) (30|18|16)
- 1:   Abnormality of the lower limb [HP:0002814] <17>(30|31) (33|14|13)
- 1:   Abnormality of the musculature of the limbs [HP:0009127] <10>(12|8) (14|4|2)
- 1:   Aplasia/hypoplasia of the extremities [HP:0009815] <6>(8|9) (9|3|5)
- 1:   Autoamputation [HP:0001218] <2>(0|0) (0|0|0)
- 1:   Hemihypertrophy [HP:0001528] <2>(0|1) (0|0|0)
- 1:   Abnormality of limb bone [HP:0040068] <1>(28|30) (30|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)
TB module/8-cys domain0Direct
ADC-like0Direct
Notch domain0Direct
GroEL equatorial domain-like0Direct
Smc hinge domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
CCCH zinc finger0Direct
BRK domain-like0Direct
Zn-finger domain of Sec23/240Direct
Plakin repeat0Direct
Hedgehog/intein (Hint) domain0Direct
Hedgehog/DD-peptidase0Direct
RuvA domain 2-like0Direct
CalX-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Helical domain of Sec23/240Direct
Hect, E3 ligase catalytic domain0.002108Inherited
Nucleotide-diphospho-sugar transferases0.002994Inherited
Actin-like ATPase domain0.004616Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01622Inherited
WD40 repeat-like0.01649Inherited
Myosin rod fragments0.01686Inherited
SET domain0.02351Inherited
HSP20-like chaperones0.03075Inherited
Bromodomain0.03655Inherited
FnI-like domain0.05577Inherited
Nicotinic receptor ligand binding domain-like0.06495Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.06495Inherited
Calponin-homology domain, CH-domain0.06808Inherited
Insulin-like0.1016Inherited
Arginase/deacetylase0.1016Inherited
S15/NS1 RNA-binding domain0.1016Inherited
Restriction endonuclease-like0.1016Inherited
Hemopexin-like domain0.1026Inherited
ARID-like0.1396Inherited
Histone-fold0.1396Inherited
EGF/Laminin0.1406Inherited
Tropomyosin0.1587Inherited
PGBD-like0.1587Inherited
Cystine-knot cytokines0.1684Inherited
Spectrin repeat0.1799Inherited
Multidrug efflux transporter AcrB transmembrane domain0.2229Inherited
SNARE fusion complex0.2229Inherited
Prefoldin0.2391Inherited
vWA-like0.2605Inherited
Concanavalin A-like lectins/glucanases0.2784Inherited
HLH, helix-loop-helix DNA-binding domain0.4014Inherited
SCOP hierarchy in SUPERFAMILY0.4326Inherited
MIR domain0.4753Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5515Inherited
Intermediate filament protein, coiled coil region0.6201Inherited
Class II aaRS and biotin synthetases0.6545Inherited
p53-like transcription factors0.686Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.7178Inherited
Voltage-gated potassium channels0.8337Inherited
Immunoglobulin0.884Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Trunk domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Histone deacetylase, HDAC0Direct
BRK domain-like0Direct
CalX-beta domain0Direct
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
Proteasome subunits0Direct
Myotubularin-like phosphatases0Direct
XPF/Rad1/Mus81 nuclease0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Protein serine/threonine phosphatase0Direct
Notch domain0Direct
SWIRM domain0Direct
p120GAP domain-like0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
Smc hinge domain0Direct
Plakin repeat0Direct
Zn-finger domain of Sec23/240Direct
Exostosin0Direct
Filamin repeat (rod domain)0Direct
CCCH zinc finger0Direct
TB module/8-cys domain0Direct
beta-sandwich domain of Sec23/240Direct
Helical domain of Sec23/240Direct
Regulator of chromosome condensation RCC10Direct
Hect, E3 ligase catalytic domain0.001072Inherited
G proteins0.00126Inherited
Actin/HSP700.004872Inherited
Erythroid transcription factor GATA-10.01012Inherited
Myosin rod fragments0.01037Inherited
PHD domain0.02025Inherited
Bromodomain0.02351Inherited
Tetratricopeptide repeat (TPR)0.03257Inherited
Clathrin adaptor core protein0.04041Inherited
Nicotinic receptor ligand binding domain-like0.04469Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.04469Inherited
Histone lysine methyltransferases0.04636Inherited
Calponin-homology domain, CH-domain0.04669Inherited
VWC domain0.06318Inherited
Transforming growth factor (TGF)-beta0.06694Inherited
Hemopexin-like domain0.0771Inherited
Insulin-like0.07788Inherited
ZZ domain0.07788Inherited
a tRNA synthase domain0.07788Inherited
Laminin-type module0.09175Inherited
ARID domain0.1085Inherited
Classic zinc finger, C2H20.1123Inherited
MMP N-terminal domain0.1246Inherited
Matrix metalloproteases, catalytic domain0.1246Inherited
Tropomyosin0.1246Inherited
RecA protein-like (ATPase-domain)0.1333Inherited
Integrin A (or I) domain0.1384Inherited
Spectrin repeat0.1395Inherited
TSP-1 type 1 repeat0.1816Inherited
Fibronectin type II module0.1831Inherited
SNARE fusion complex0.1831Inherited
HLH, helix-loop-helix DNA-binding domain0.3345Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.3967Inherited
Homeodomain0.4014Inherited
MIR domain0.422Inherited
Tyrosine-dependent oxidoreductases0.4654Inherited
LIM domain0.4664Inherited
I set domains0.4817Inherited
Intermediate filament protein, coiled coil region0.5548Inherited


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)
CCCH zinc finger0Direct
GroEL equatorial domain-like0Direct
Hedgehog/intein (Hint) domain0Direct
BRK domain-like0Direct
Plakin repeat0Direct
TB module/8-cys domain0Direct
Zn-finger domain of Sec23/240Direct
Rhodanese/Cell cycle control phosphatase0Direct
Smc hinge domain0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
ADC-like0Direct
Hedgehog/DD-peptidase0Direct
Notch domain0Direct
RuvA domain 2-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
CalX-like0Direct
Hect, E3 ligase catalytic domain0.001209Inherited
Nucleotide-diphospho-sugar transferases0.001768Inherited
Actin-like ATPase domain0.002828Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01095Inherited
WD40 repeat-like0.01116Inherited
Myosin rod fragments0.01142Inherited
SET domain0.01634Inherited
HSP20-like chaperones0.02186Inherited
Bromodomain0.02636Inherited
FnI-like domain0.04194Inherited
Nicotinic receptor ligand binding domain-like0.04946Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.04946Inherited
Calponin-homology domain, CH-domain0.05205Inherited
TPR-like0.07267Inherited
Cysteine proteinases0.07834Inherited
S15/NS1 RNA-binding domain0.08037Inherited
Insulin-like0.08037Inherited
Arginase/deacetylase0.08037Inherited
Restriction endonuclease-like0.08037Inherited
Hemopexin-like domain0.08112Inherited
Histone-fold0.1139Inherited
ARID-like0.1139Inherited
EGF/Laminin0.1147Inherited
Tropomyosin0.1308Inherited
PGBD-like0.1308Inherited
Cystine-knot cytokines0.1392Inherited
Spectrin repeat0.1495Inherited
SNARE fusion complex0.1888Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1888Inherited
Prefoldin0.204Inherited
vWA-like0.2241Inherited
Concanavalin A-like lectins/glucanases0.241Inherited
HLH, helix-loop-helix DNA-binding domain0.3593Inherited
MIR domain0.4322Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5091Inherited
Intermediate filament protein, coiled coil region0.5803Inherited
Class II aaRS and biotin synthetases0.6154Inherited
p53-like transcription factors0.6479Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.6801Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.7112Inherited
Voltage-gated potassium channels0.8009Inherited
Immunoglobulin0.854Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
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
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    55166,51294
  • 55166 - Hedgehog/DD-peptidase
  • 51294 - Hedgehog/intein (Hint) domain
  • 0Direct
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 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
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.006088Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.02186Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.0222Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.04157Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.04946Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.06629Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.07296Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.08037Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1139Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1308Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1888Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.2468Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2807Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3369Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.5148Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.7924Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 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
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 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
    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
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 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
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    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
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.006088Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.02186Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1157Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1308Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.3056Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.3157Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.3728Inherited


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