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Phenotypic Abnormality (PA): Abnormality of the integument

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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 the integument [HP:0001574] <4>(46|70) (57|38|17)
- 1:   Abnormality of skin adnexa physiology [HP:0025276] <6>(2|2) (3|3|1)
- 1:   Abnormality of skin adnexa morphology [HP:0011138] <5>(14|19) (16|5|2)
- 1:   Abnormality of the skin [HP:0000951] <4>(32|53) (43|37|14)
- 1:   Abnormality of platysma [HP:3000013](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
HIT-like0Direct
Lamin A/C globular tail domain0Direct
CCCH zinc finger0Direct
Toll/Interleukin receptor TIR domain0Direct
Caspase-like0Direct
Translation proteins SH3-like domain0Direct
Smc hinge domain0Direct
RuvA domain 2-like0Direct
SAND domain-like0Direct
Tricorn protease domain 20Direct
BRK domain-like0Direct
Notch domain0Direct
JAB1/MPN domain0Direct
Plakin repeat0Direct
Integrin beta tail domain0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
DEATH domain0.003836Inherited
ABC transporter transmembrane region0.009749Inherited
SH2 domain0.02121Inherited
Intermediate filament protein, coiled coil region0.02352Inherited
DNA/RNA polymerases0.04415Inherited
Spectrin repeat0.05493Inherited
Globin-like0.07057Inherited
MHC antigen-recognition domain0.08196Inherited
Integrin domains0.08196Inherited
SET domain0.09531Inherited
RING/U-box0.1028Inherited
GroEL equatorial domain-like0.1107Inherited
Bromodomain0.1285Inherited
DNA repair protein MutS, domain III0.1734Inherited
Prefoldin0.174Inherited
(Trans)glycosidases0.1835Inherited
RNI-like0.2199Inherited
Immunoglobulin0.2235Inherited
EGF/Laminin0.2364Inherited
ARID-like0.2479Inherited
Nicotinic receptor ligand binding domain-like0.2633Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2633Inherited
Complement control module/SCR domain0.3426Inherited
Histone-fold0.3494Inherited
Nucleotide-diphospho-sugar transferases0.3816Inherited
BRCT domain0.4251Inherited
Ribosomal protein S5 domain 2-like0.4871Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5449Inherited
L domain-like0.7991Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Dimeric isocitrate & isopropylmalate dehydrogenases0Direct
CCCH zinc finger0Direct
DnaQ-like 3'-5' exonuclease0Direct
Lamin A/C globular tail domain0Direct
JAB1/MPN domain0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
BRK domain-like0Direct
Caspase catalytic domain0Direct
Toll/Interleukin receptor TIR domain0Direct
Zn-finger domain of Sec23/240Direct
beta-glycanases0Direct
Smc hinge domain0Direct
Integrin beta EGF-like domains0Direct
Gonadodropin/Follitropin0Direct
Integrin beta tail domain0Direct
Proteasome subunits0Direct
ets domain0Direct
Plakin repeat0Direct
Erythroid transcription factor GATA-10Direct
SWIRM domain0Direct
Histone deacetylase, HDAC0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
ABC transporter ATPase domain-like0.001182Inherited
ABC transporter transmembrane region0.004276Inherited
Integrin A (or I) domain0.00566Inherited
SH2 domain0.01726Inherited
C1 set domains (antibody constant domain-like)0.0185Inherited
Intermediate filament protein, coiled coil region0.01944Inherited
Actin/HSP700.02105Inherited
GLA-domain0.03477Inherited
Histone lysine methyltransferases0.04491Inherited
TNF receptor-like0.04491Inherited
Spectrin repeat0.04587Inherited
Globins0.05798Inherited
Integrin domains0.06908Inherited
MHC antigen-recognition domain0.06908Inherited
DNA gyrase/MutL, second domain0.09377Inherited
Pyrin domain, PYD0.09377Inherited
DNA gyrase/MutL, N-terminal domain0.09377Inherited
Tyrosine-dependent oxidoreductases0.1002Inherited
Bromodomain0.113Inherited
PHD domain0.1311Inherited
Hect, E3 ligase catalytic domain0.1413Inherited
G proteins0.1443Inherited
DNA repair protein MutS, domain III0.15Inherited
Helical domain of Sec23/240.15Inherited
C-terminal, gelsolin-like domain of Sec23/240.15Inherited
beta-sandwich domain of Sec23/240.15Inherited
Trunk domain of Sec23/240.15Inherited
Spermadhesin, CUB domain0.1508Inherited
VWC domain0.1523Inherited
DEATH domain, DD0.1995Inherited
Ras-binding domain, RBD0.2221Inherited
ARID domain0.2221Inherited
EGF-type module0.2245Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2436Inherited
Nicotinic receptor ligand binding domain-like0.2436Inherited
Laminin-type module0.26Inherited
TBP-associated factors, TAFs0.3199Inherited
Complement control module/SCR domain0.3213Inherited
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain)0.3341Inherited
RecA protein-like (ATPase-domain)0.3998Inherited
NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain0.4854Inherited
Ngr ectodomain-like0.4861Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.5065Inherited
Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain)0.6298Inherited
Extended AAA-ATPase domain0.8952Inherited
V set domains (antibody variable domain-like)0.9264Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Caspase-like0Direct
Notch domain0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
HIT-like0Direct
Zn-finger domain of Sec23/240Direct
Integrin beta tail domain0Direct
JAB1/MPN domain0Direct
Plakin repeat0Direct
Smc hinge domain0Direct
Toll/Interleukin receptor TIR domain0Direct
Lamin A/C globular tail domain0Direct
SAND domain-like0Direct
Tricorn protease domain 20Direct
RuvA domain 2-like0Direct
BRK domain-like0Direct
Translation proteins SH3-like domain0Direct
CCCH zinc finger0Direct
DEATH domain0.00234Inherited
ABC transporter transmembrane region0.006393Inherited
SH2 domain0.01468Inherited
Intermediate filament protein, coiled coil region0.01643Inherited
DNA/RNA polymerases0.0325Inherited
GLA-domain0.0325Inherited
vWA-like0.03863Inherited
P-loop containing nucleoside triphosphate hydrolases0.04112Inherited
Spectrin repeat0.04134Inherited
Globin-like0.05418Inherited
MHC antigen-recognition domain0.0639Inherited
Integrin domains0.0639Inherited
SET domain0.07523Inherited
RING/U-box0.08151Inherited
GroEL equatorial domain-like0.08825Inherited
Bromodomain0.1038Inherited
Hect, E3 ligase catalytic domain0.1321Inherited
Helical domain of Sec23/240.1438Inherited
C-terminal, gelsolin-like domain of Sec23/240.1438Inherited
DNA repair protein MutS, domain III0.1438Inherited
Prefoldin0.1443Inherited
(Trans)glycosidases0.1528Inherited
Protein kinase-like (PK-like)0.1729Inherited
RNI-like0.1865Inherited
Immunoglobulin0.1899Inherited
EGF/Laminin0.2019Inherited
ARID-like0.2123Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.227Inherited
Nicotinic receptor ligand binding domain-like0.227Inherited
Complement control module/SCR domain0.3026Inherited
Histone-fold0.309Inherited
Nucleotide-diphospho-sugar transferases0.3405Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.3531Inherited
Adenine nucleotide alpha hydrolases-like0.3531Inherited
BRCT domain0.3829Inherited
FnI-like domain0.4333Inherited
Ribosomal protein S5 domain 2-like0.4441Inherited
Nuclear receptor ligand-binding domain0.475Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5023Inherited
L domain-like0.7653Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0Direct
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0Direct
    49265,53300
  • 49265 - Fibronectin type III
  • 53300 - vWA-like
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 domain
  • 0Direct
    50729,47473
  • 50729 - PH domain-like
  • 47473 - EF-hand
  • 0Direct
    53300,69179
  • 53300 - vWA-like
  • 69179 - Integrin domains
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    57196,69687
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    57424,50494
  • 57424 - LDL receptor-like module
  • 50494 - Trypsin-like serine proteases
  • 0Direct
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 0Direct
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    53300,49265
  • 53300 - vWA-like
  • 49265 - Fibronectin type III
  • 0Direct
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.006393Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02632Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.04137Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.04887Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.05418Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.0639Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.08825Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08825Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.08825Inherited
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0.1438Inherited
    48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1438Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1865Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.2181Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.227Inherited
    49265,49265
  • 49265 - Fibronectin type III
  • 49265 - Fibronectin type III
  • 0.2407Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2637Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.309Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.3553Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,69687
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    57586,57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    49265,49265,53300
  • 49265 - Fibronectin type III
  • 49265 - Fibronectin type III
  • 53300 - vWA-like
  • 0Direct
    57424,57184,63825
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 63825 - YWTD domain
  • 0Direct
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0Direct
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    49899,57196,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57424,57424,50494
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 50494 - Trypsin-like serine proteases
  • 0Direct
    57424,57424,57184
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.02632Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.2581Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.2581Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4617Inherited
    49899,49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.4894Inherited


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