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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|65) (63|33|25)
- 1:   Abnormality of the upper limb [HP:0002817] <20>(29|34) (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|9) (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|31) (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
Plakin repeat0Direct
Smc hinge domain0Direct
GroEL equatorial domain-like0Direct
CCCH zinc finger0Direct
Hedgehog/intein (Hint) domain0Direct
Hedgehog/DD-peptidase0Direct
BRK domain-like0Direct
TB module/8-cys domain0Direct
Helical domain of Sec23/240Direct
Zn-finger domain of Sec23/240Direct
Rhodanese/Cell cycle control phosphatase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
CalX-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
RuvA domain 2-like0Direct
Hect, E3 ligase catalytic domain0.002305Inherited
Actin-like ATPase domain0.002881Inherited
Nucleotide-diphospho-sugar transferases0.003462Inherited
SET domain0.01605Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01728Inherited
Myosin rod fragments0.01812Inherited
WD40 repeat-like0.01969Inherited
HSP20-like chaperones0.03234Inherited
Bromodomain0.03937Inherited
S15/NS1 RNA-binding domain0.05848Inherited
FnI-like domain0.05946Inherited
Nicotinic receptor ligand binding domain-like0.06955Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.06955Inherited
Calponin-homology domain, CH-domain0.0729Inherited
Insulin-like0.1051Inherited
Restriction endonuclease-like0.1051Inherited
Arginase/deacetylase0.1051Inherited
Hemopexin-like domain0.1077Inherited
Histone-fold0.1443Inherited
ARID-like0.1443Inherited
EGF/Laminin0.1562Inherited
Tropomyosin0.1649Inherited
PGBD-like0.1649Inherited
Class II aaRS ABD-related0.1649Inherited
Cystine-knot cytokines0.1791Inherited
Spectrin repeat0.1887Inherited
Metalloproteases ("zincins"), catalytic domain0.2215Inherited
Multidrug efflux transporter AcrB transmembrane domain0.2288Inherited
SNARE fusion complex0.2288Inherited
HMG-box0.2411Inherited
Concanavalin A-like lectins/glucanases0.2977Inherited
vWA-like0.3267Inherited
Prefoldin0.356Inherited
HLH, helix-loop-helix DNA-binding domain0.4199Inherited
Class II aaRS and biotin synthetases0.4363Inherited
MIR domain0.4841Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.536Inherited
Intermediate filament protein, coiled coil region0.6402Inherited
Voltage-gated potassium channels0.6887Inherited
p53-like transcription factors0.7507Inherited
Immunoglobulin0.8951Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
p120GAP domain-like0Direct
Filamin repeat (rod domain)0Direct
Protein serine/threonine phosphatase0Direct
Hedgehog (development protein), N-terminal signaling domain0Direct
Hedgehog C-terminal (Hog) autoprocessing domain0Direct
Notch domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Plakin repeat0Direct
Exostosin0Direct
Helical domain of Sec23/240Direct
XPF/Rad1/Mus81 nuclease0Direct
Trunk domain of Sec23/240Direct
Myotubularin-like phosphatases0Direct
TB module/8-cys domain0Direct
Histone deacetylase, HDAC0Direct
Smc hinge domain0Direct
Zn-finger domain of Sec23/240Direct
beta-sandwich domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
SWIRM domain0Direct
Regulator of chromosome condensation RCC10Direct
BRK domain-like0Direct
Proteasome subunits0Direct
CalX-beta domain0Direct
CCCH zinc finger0Direct
Hect, E3 ligase catalytic domain0.001168Inherited
Actin/HSP700.00248Inherited
Erythroid transcription factor GATA-10.01069Inherited
Myosin rod fragments0.01106Inherited
PHD domain0.0142Inherited
Bromodomain0.02525Inherited
Tetratricopeptide repeat (TPR)0.03525Inherited
a tRNA synthase domain0.04184Inherited
Clathrin adaptor core protein0.04184Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.04781Inherited
Nicotinic receptor ligand binding domain-like0.04781Inherited
Histone lysine methyltransferases0.04872Inherited
Calponin-homology domain, CH-domain0.05004Inherited
VWC domain0.06557Inherited
Transforming growth factor (TGF)-beta0.07096Inherited
Growth factor receptor domain0.07512Inherited
ZZ domain0.08033Inherited
Insulin-like0.08033Inherited
Hemopexin-like domain0.08046Inherited
Laminin-type module0.09626Inherited
ARID domain0.1121Inherited
Anticodon-binding domain of Class II aaRS0.1287Inherited
MMP N-terminal domain0.1287Inherited
Matrix metalloproteases, catalytic domain0.1287Inherited
Tropomyosin0.1287Inherited
RecA protein-like (ATPase-domain)0.1381Inherited
Integrin A (or I) domain0.1452Inherited
Spectrin repeat0.1457Inherited
Classic zinc finger, C2H20.1457Inherited
SNARE fusion complex0.1877Inherited
Fibronectin type II module0.1877Inherited
TSP-1 type 1 repeat0.1902Inherited
HMG-box0.1902Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.1946Inherited
HLH, helix-loop-helix DNA-binding domain0.3502Inherited
MIR domain0.4303Inherited
LIM domain0.4771Inherited
Tyrosine-dependent oxidoreductases0.478Inherited
Intermediate filament protein, coiled coil region0.5716Inherited
I set domains0.587Inherited


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)
TB module/8-cys domain0Direct
Plakin repeat0Direct
Smc hinge domain0Direct
Hedgehog/intein (Hint) domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Notch domain0Direct
Zn-finger domain of Sec23/240Direct
GroEL equatorial domain-like0Direct
Hedgehog/DD-peptidase0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
CCCH zinc finger0Direct
Rhodanese/Cell cycle control phosphatase0Direct
ADC-like0Direct
BRK domain-like0Direct
Hect, E3 ligase catalytic domain0.001309Inherited
Actin-like ATPase domain0.001667Inherited
Nucleotide-diphospho-sugar transferases0.002036Inherited
SET domain0.01073Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.01161Inherited
Myosin rod fragments0.0122Inherited
WD40 repeat-like0.01338Inherited
Protein kinase-like (PK-like)0.02269Inherited
HSP20-like chaperones0.02286Inherited
Bromodomain0.0283Inherited
S15/NS1 RNA-binding domain0.04379Inherited
FnI-like domain0.04457Inherited
Nicotinic receptor ligand binding domain-like0.05298Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.05298Inherited
Calponin-homology domain, CH-domain0.05572Inherited
TPR-like0.07998Inherited
Arginase/deacetylase0.0829Inherited
Insulin-like0.0829Inherited
Restriction endonuclease-like0.0829Inherited
Hemopexin-like domain0.08495Inherited
Cysteine proteinases0.1145Inherited
ARID-like0.1175Inherited
Histone-fold0.1175Inherited
EGF/Laminin0.1278Inherited
Class II aaRS ABD-related0.1354Inherited
Tropomyosin0.1354Inherited
PGBD-like0.1354Inherited
Cystine-knot cytokines0.148Inherited
Spectrin repeat0.1568Inherited
Metalloproteases ("zincins"), catalytic domain0.187Inherited
SNARE fusion complex0.1937Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1937Inherited
HMG-box0.2052Inherited
Concanavalin A-like lectins/glucanases0.2579Inherited
vWA-like0.2856Inherited
Prefoldin0.314Inherited
HLH, helix-loop-helix DNA-binding domain0.3763Inherited
Class II aaRS and biotin synthetases0.3925Inherited
MIR domain0.4405Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.492Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5192Inherited
Intermediate filament protein, coiled coil region0.5992Inherited
Voltage-gated potassium channels0.6497Inherited
p53-like transcription factors0.7134Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.7313Inherited
Immunoglobulin0.8655Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 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
    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
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 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
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    55166,51294
  • 55166 - Hedgehog/DD-peptidase
  • 51294 - Hedgehog/intein (Hint) domain
  • 0Direct
    81383,52047
  • 81383 - F-box domain
  • 52047 - RNI-like
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.01844Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.02286Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.02381Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.04633Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.05298Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.06894Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.07756Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.0829Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1175Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1354Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1937Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.259Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2914Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3489Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.5775Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.8005Inherited

    (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
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57581,57196
  • 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
    57581,57184,57581
  • 57581 - TB module/8-cys 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
    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
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys 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
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 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
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.006599Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.02286Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.0994Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1354Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.314Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.3287Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.384Inherited


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