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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>(55|63) (58|31|22)
- 1:   Abnormality of the upper limb [HP:0002817] <20>(26|31) (31|19|15)
- 1:   Abnormality of the lower limb [HP:0002814] <17>(29|31) (33|13|12)
- 1:   Abnormality of the musculature of the limbs [HP:0009127] <10>(10|7) (11|2|0)
- 1:   Aplasia/hypoplasia of the extremities [HP:0009815] <6>(6|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>(25|27) (27|18|18)
- 1:   Limb fasciculations [HP:0007289](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
Zn-finger domain of Sec23/240Direct
Helical domain of Sec23/240Direct
CCCH zinc finger0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Smc hinge domain0Direct
GroEL equatorial domain-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
RuvA domain 2-like0Direct
Hedgehog/DD-peptidase0Direct
BRK domain-like0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
Plakin repeat0Direct
ADC-like0Direct
Nucleotide-diphospho-sugar transferases0.001109Inherited
Hect, E3 ligase catalytic domain0.001831Inherited
Actin-like ATPase domain0.003976Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01496Inherited
Myosin rod fragments0.01534Inherited
SET domain0.02084Inherited
WD40 repeat-like0.02808Inherited
Bromodomain0.0329Inherited
FnI-like domain0.05111Inherited
Growth factor receptor domain0.074Inherited
Nicotinic receptor ligand binding domain-like0.08584Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.08584Inherited
Hemopexin-like domain0.09691Inherited
Restriction endonuclease-like0.09742Inherited
Arginase/deacetylase0.09742Inherited
Insulin-like0.09742Inherited
S15/NS1 RNA-binding domain0.09742Inherited
Tudor/PWWP/MBT0.1194Inherited
EGF/Laminin0.1223Inherited
HSP20-like chaperones0.1337Inherited
ARID-like0.1337Inherited
PGBD-like0.1518Inherited
Tropomyosin0.1518Inherited
Calponin-homology domain, CH-domain0.167Inherited
Spectrin repeat0.1697Inherited
vWA-like0.199Inherited
SNARE fusion complex0.2156Inherited
Prefoldin0.2302Inherited
Cystine-knot cytokines0.2437Inherited
TPR-like0.3254Inherited
MIR domain0.3413Inherited
SCOP hierarchy in SUPERFAMILY0.3557Inherited
Concanavalin A-like lectins/glucanases0.4436Inherited
HLH, helix-loop-helix DNA-binding domain0.4978Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5379Inherited
Class II aaRS and biotin synthetases0.5749Inherited
Intermediate filament protein, coiled coil region0.5972Inherited
p53-like transcription factors0.6154Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.7042Inherited
Immunoglobulin0.7456Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Protein serine/threonine phosphatase0Direct
CCCH zinc finger0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
BRK domain-like0Direct
Myotubularin-like phosphatases0Direct
Zn-finger domain of Sec23/240Direct
Smc hinge domain0Direct
p120GAP domain-like0Direct
Filamin repeat (rod domain)0Direct
Proteasome subunits0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
beta-sandwich domain of Sec23/240Direct
Exostosin0Direct
Plakin repeat0Direct
SWIRM domain0Direct
Trunk domain of Sec23/240Direct
Histone deacetylase, HDAC0Direct
Hect, E3 ligase catalytic domain0.0009983Direct
Actin/HSP700.004625Inherited
G proteins0.005758Inherited
Erythroid transcription factor GATA-10.009626Inherited
Myosin rod fragments0.009792Inherited
PHD domain0.01907Inherited
Bromodomain0.02224Inherited
Tandem AAA-ATPase domain0.03294Inherited
Sema domain0.03376Inherited
Clathrin adaptor core protein0.0389Inherited
Histone lysine methyltransferases0.04456Inherited
VWC domain0.06143Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.06458Inherited
Transforming growth factor (TGF)-beta0.06458Inherited
Nicotinic receptor ligand binding domain-like0.06458Inherited
RecA protein-like (ATPase-domain)0.07497Inherited
Hemopexin-like domain0.07497Inherited
a tRNA synthase domain0.07639Inherited
ZZ domain0.07639Inherited
Insulin-like0.07639Inherited
Laminin-type module0.0896Inherited
ARID domain0.1066Inherited
Anticodon-binding domain of Class II aaRS0.1066Inherited
Tropomyosin0.1222Inherited
Matrix metalloproteases, catalytic domain0.1222Inherited
MMP N-terminal domain0.1222Inherited
TSP-1 type 1 repeat0.133Inherited
Calponin-homology domain, CH-domain0.133Inherited
Integrin A (or I) domain0.1349Inherited
Spectrin repeat0.1362Inherited
SNARE fusion complex0.1802Inherited
Fibronectin type II module0.1802Inherited
MIR domain0.2973Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.3194Inherited
I set domains0.3444Inherited
Classic zinc finger, C2H20.3985Inherited
HLH, helix-loop-helix DNA-binding domain0.4447Inherited
Tyrosine-dependent oxidoreductases0.4576Inherited
Homeodomain0.467Inherited
Intermediate filament protein, coiled coil region0.5456Inherited


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)
Notch domain0Direct
Zn-finger domain of Sec23/240Direct
Helical domain of Sec23/240Direct
ADC-like0Direct
GroEL equatorial domain-like0Direct
TB module/8-cys domain0Direct
Plakin repeat0Direct
Smc hinge domain0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Hedgehog/DD-peptidase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
RuvA domain 2-like0Direct
BRK domain-like0Direct
Hedgehog/intein (Hint) domain0Direct
CCCH zinc finger0Direct
Nucleotide-diphospho-sugar transferases0.0006115Direct
Hect, E3 ligase catalytic domain0.001047Inherited
Actin-like ATPase domain0.002434Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01006Inherited
Myosin rod fragments0.01032Inherited
SET domain0.01441Inherited
WD40 repeat-like0.01991Inherited
Bromodomain0.02368Inherited
Sema domain0.03508Inherited
FnI-like domain0.03812Inherited
Growth factor receptor domain0.05699Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.06721Inherited
Nicotinic receptor ligand binding domain-like0.06721Inherited
Hemopexin-like domain0.07655Inherited
S15/NS1 RNA-binding domain0.07697Inherited
Arginase/deacetylase0.07697Inherited
Insulin-like0.07697Inherited
Restriction endonuclease-like0.07697Inherited
Tudor/PWWP/MBT0.09583Inherited
EGF/Laminin0.09838Inherited
Class II aaRS ABD-related0.1086Inherited
HSP20-like chaperones0.1086Inherited
ARID-like0.1086Inherited
PGBD-like0.1247Inherited
Tropomyosin0.1247Inherited
Calponin-homology domain, CH-domain0.1383Inherited
TSP-1 type 1 repeat0.1383Inherited
Spectrin repeat0.1407Inherited
vWA-like0.167Inherited
SNARE fusion complex0.1825Inherited
Prefoldin0.196Inherited
Cystine-knot cytokines0.2085Inherited
TPR-like0.2862Inherited
MIR domain0.3013Inherited
Concanavalin A-like lectins/glucanases0.4012Inherited
HLH, helix-loop-helix DNA-binding domain0.4545Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.4952Inherited
Class II aaRS and biotin synthetases0.5325Inherited
Intermediate filament protein, coiled coil region0.5556Inherited
p53-like transcription factors0.5742Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.6658Inherited
Immunoglobulin0.7094Inherited
E set domains0.8032Inherited

(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
    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
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 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
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 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
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.005424Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.01997Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.03508Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.0354Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.04002Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.06721Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.07697Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1086Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1247Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1825Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1835Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.1918Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2682Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.7811Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.7928Inherited

    (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
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    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
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 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
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
    57581,57184,57581
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.005424Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.04002Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.08136Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2995Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.3589Inherited


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