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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>(48|69) (59|37|15)
- 1:   Abnormality of skin adnexa physiology [HP:0025276] <6>(2|2) (3|3|1)
- 1:   Abnormality of skin adnexa morphology [HP:0011138] <5>(16|19) (17|6|2)
- 1:   Abnormality of the skin [HP:0000951] <4>(34|55) (45|36|12)
- 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)
Notch domain0Direct
Translation proteins SH3-like domain0Direct
Tricorn protease domain 20Direct
DHS-like NAD/FAD-binding domain0Direct
HIT-like0Direct
Lamin A/C globular tail domain0Direct
RuvA domain 2-like0Direct
Caspase-like0Direct
Plakin repeat0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Integrin beta tail domain0Direct
Smc hinge domain0Direct
SAND domain-like0Direct
Apolipoprotein A-I0Direct
Zn-finger domain of Sec23/240Direct
CCCH zinc finger0Direct
JAB1/MPN domain0Direct
DEATH domain0.002464Inherited
Intermediate filament protein, coiled coil region0.0222Inherited
ABC transporter transmembrane region0.02608Inherited
MHC antigen-recognition domain0.03577Inherited
DNA/RNA polymerases0.04358Inherited
SH2 domain0.05099Inherited
Spectrin repeat0.05334Inherited
SET domain0.06828Inherited
Globin-like0.0692Inherited
Integrin domains0.08012Inherited
RING/U-box0.0859Inherited
GroEL equatorial domain-like0.1097Inherited
Bromodomain0.125Inherited
HMG-box0.1264Inherited
(Trans)glycosidases0.1416Inherited
EGF/Laminin0.1695Inherited
DNA repair protein MutS, domain III0.1721Inherited
BRK domain-like0.1721Inherited
Immunoglobulin0.1801Inherited
Complement control module/SCR domain0.2227Inherited
Histone-fold0.2456Inherited
ARID-like0.2456Inherited
Prefoldin0.2933Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3363Inherited
Nicotinic receptor ligand binding domain-like0.3363Inherited
BRCT domain0.4203Inherited
FnI-like domain0.4707Inherited
RNI-like0.4814Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5408Inherited
Ribosomal protein S5 domain 2-like0.5669Inherited
alpha/beta-Hydrolases0.5823Inherited


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
Proteasome subunits0Direct
Gonadodropin/Follitropin0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Lamin A/C globular tail domain0Direct
Apolipoprotein A-I0Direct
Integrin beta EGF-like domains0Direct
SWIRM domain0Direct
beta-glycanases0Direct
ets domain0Direct
Notch domain0Direct
Caspase catalytic domain0Direct
Smc hinge domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Erythroid transcription factor GATA-10Direct
Plakin repeat0Direct
Exostosin0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Dimeric isocitrate & isopropylmalate dehydrogenases0Direct
JAB1/MPN domain0Direct
Integrin beta tail domain0Direct
ABC transporter ATPase domain-like0.002701Inherited
Integrin A (or I) domain0.005335Inherited
C1 set domains (antibody constant domain-like)0.006884Inherited
Actin/HSP700.01218Inherited
Intermediate filament protein, coiled coil region0.01807Inherited
MHC antigen-recognition domain0.02801Inherited
GLA-domain0.03431Inherited
SH2 domain0.04354Inherited
Histone lysine methyltransferases0.04375Inherited
Spectrin repeat0.04411Inherited
Globins0.05646Inherited
DnaQ-like 3'-5' exonuclease0.05646Inherited
Integrin domains0.06718Inherited
DNA gyrase/MutL, second domain0.09177Inherited
DNA gyrase/MutL, N-terminal domain0.09177Inherited
Pyrin domain, PYD0.09177Inherited
Tyrosine-dependent oxidoreductases0.09588Inherited
TNF receptor-like0.09639Inherited
PHD domain0.09697Inherited
G proteins0.09936Inherited
Bromodomain0.1086Inherited
HMG-box0.1113Inherited
Hect, E3 ligase catalytic domain0.1371Inherited
C-terminal, gelsolin-like domain of Sec23/240.1477Inherited
DNA repair protein MutS, domain III0.1477Inherited
Helical domain of Sec23/240.1477Inherited
BRK domain-like0.1477Inherited
beta-sandwich domain of Sec23/240.1477Inherited
Trunk domain of Sec23/240.1477Inherited
VWC domain0.1489Inherited
DEATH domain, DD0.194Inherited
Complement control module/SCR domain0.2025Inherited
EGF-type module0.214Inherited
ARID domain0.2184Inherited
Ras-binding domain, RBD0.2184Inherited
Laminin-type module0.2533Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.2655Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3126Inherited
Nicotinic receptor ligand binding domain-like0.3126Inherited
TBP-associated factors, TAFs0.3159Inherited
Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain)0.362Inherited
NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain0.481Inherited
RecA protein-like (ATPase-domain)0.5142Inherited
Ngr ectodomain-like0.6303Inherited
Extended AAA-ATPase domain0.8882Inherited
V set domains (antibody variable domain-like)0.9558Inherited


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)
Smc hinge domain0Direct
DHS-like NAD/FAD-binding domain0Direct
Notch domain0Direct
Plakin repeat0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Tricorn protease domain 20Direct
RuvA domain 2-like0Direct
SAND domain-like0Direct
Apolipoprotein A-I0Direct
Translation proteins SH3-like domain0Direct
JAB1/MPN domain0Direct
HIT-like0Direct
Lamin A/C globular tail domain0Direct
Zn-finger domain of Sec23/240Direct
Integrin beta tail domain0Direct
Caspase-like0Direct
CCCH zinc finger0Direct
DEATH domain0.001407Inherited
Intermediate filament protein, coiled coil region0.01526Inherited
ABC transporter transmembrane region0.01807Inherited
MHC antigen-recognition domain0.02555Inherited
GLA-domain0.0316Inherited
DNA/RNA polymerases0.0316Inherited
P-loop containing nucleoside triphosphate hydrolases0.03352Inherited
SH2 domain0.03765Inherited
Spectrin repeat0.03956Inherited
SET domain0.05187Inherited
Globin-like0.05264Inherited
Integrin domains0.06172Inherited
RING/U-box0.06661Inherited
GroEL equatorial domain-like0.08642Inherited
Bromodomain0.1001Inherited
HMG-box0.1014Inherited
(Trans)glycosidases0.1149Inherited
Hect, E3 ligase catalytic domain0.1289Inherited
EGF/Laminin0.1395Inherited
BRK domain-like0.1417Inherited
Helical domain of Sec23/240.1417Inherited
DNA repair protein MutS, domain III0.1417Inherited
C-terminal, gelsolin-like domain of Sec23/240.1417Inherited
Immunoglobulin0.149Inherited
Protein kinase-like (PK-like)0.1668Inherited
Complement control module/SCR domain0.1881Inherited
Histone-fold0.2092Inherited
ARID-like0.2092Inherited
Prefoldin0.2537Inherited
Nucleotide-diphospho-sugar transferases0.2752Inherited
Nicotinic receptor ligand binding domain-like0.295Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.295Inherited
4-helical cytokines0.3118Inherited
Adenine nucleotide alpha hydrolases-like0.3481Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.3481Inherited
BRCT domain0.3766Inherited
FnI-like domain0.427Inherited
RNI-like0.4376Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.4967Inherited
Ribosomal protein S5 domain 2-like0.5237Inherited
alpha/beta-Hydrolases0.5394Inherited
L domain-like0.893Inherited

(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
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    57424,50494
  • 57424 - LDL receptor-like module
  • 50494 - Trypsin-like serine proteases
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    103473,100895
  • 103473 - MFS general substrate transporter
  • 100895 - Kazal-type serine protease inhibitors
  • 0Direct
    49265,53300
  • 49265 - Fibronectin type III
  • 53300 - vWA-like
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    57196,69687
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 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
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 0Direct
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    53300,69179
  • 53300 - vWA-like
  • 69179 - Integrin domains
  • 0Direct
    50729,47473
  • 50729 - PH domain-like
  • 47473 - EF-hand
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0Direct
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.01807Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.02555Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02555Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.03985Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.05264Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.07597Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08642Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.08642Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.08642Inherited
    49265,49265
  • 49265 - Fibronectin type III
  • 49265 - Fibronectin type III
  • 0.1271Inherited
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0.1417Inherited
    48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1417Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1814Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.2206Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2534Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.295Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.3118Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57586,57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
    57424,57184,63825
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 63825 - YWTD domain
  • 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
    57424,57424,57184
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,69687
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.02555Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.1289Inherited
    49899,49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.2537Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.2537Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4534Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
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