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Phenotypic Abnormality (PA): Abnormality of the skin

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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)
+ + 2:   Phenotypic abnormality [HP:0000118] <25>
+ 1:   Abnormality of the integument [HP:0001574] <4>(46|70) (57|38|17)
0:   Abnormality of the skin [HP:0000951] <4>(32|53) (43|37|14)
- 1:   Neoplasm of the skin [HP:0008069] <29>(4|5) (4|2|1)
- 1:   Abnormality of skin morphology [HP:0011121] <22>(27|47) (38|32|13)
- 1:   Abnormality of skin physiology [HP:0011122] <6>(5|7) (6|3|0)
- 1:   Abnormal perifollicular morphology [HP:0031285] <3>(1|1) (1|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
RuvA domain 2-like0Direct
SAND domain-like0Direct
Tricorn protease domain 20Direct
BRK domain-like0Direct
Notch domain0Direct
Plakin repeat0Direct
Integrin beta tail domain0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
ABC transporter transmembrane region0.001523Inherited
DNA/RNA polymerases0.01705Inherited
MHC antigen-recognition domain0.03135Inherited
Integrin domains0.03135Inherited
Globin-like0.03194Inherited
EGF/Laminin0.07958Inherited
Prefoldin0.0885Inherited
DNA repair protein MutS, domain III0.1046Inherited
ARID-like0.1445Inherited
Spectrin repeat0.2289Inherited
Ribosomal protein S5 domain 2-like0.2504Inherited
Nicotinic receptor ligand binding domain-like0.2587Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2587Inherited
Complement control module/SCR domain0.2587Inherited
DEATH domain0.3105Inherited
Intermediate filament protein, coiled coil region0.3105Inherited
RNI-like0.3312Inherited
SH2 domain0.3948Inherited
Nucleotide-diphospho-sugar transferases0.4338Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5628Inherited
Immunoglobulin0.6545Inherited
L domain-like0.8394Inherited
(Trans)glycosidases0.8659Inherited


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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
DnaQ-like 3'-5' exonuclease0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
BRK domain-like0Direct
Caspase catalytic domain0Direct
Zn-finger domain of Sec23/240Direct
Integrin beta EGF-like domains0Direct
Integrin beta tail domain0Direct
Proteasome subunits0Direct
ets domain0Direct
Plakin repeat0Direct
Erythroid transcription factor GATA-10Direct
Histone deacetylase, HDAC0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Integrin A (or I) domain0.000668Direct
ABC transporter transmembrane region0.0008314Direct
C1 set domains (antibody constant domain-like)0.004394Inherited
GLA-domain0.01365Inherited
Globins0.02599Inherited
Integrin domains0.02623Inherited
MHC antigen-recognition domain0.02623Inherited
DNA gyrase/MutL, second domain0.04932Inherited
Pyrin domain, PYD0.04932Inherited
DNA gyrase/MutL, N-terminal domain0.04932Inherited
DNA repair protein MutS, domain III0.09165Inherited
Helical domain of Sec23/240.09165Inherited
C-terminal, gelsolin-like domain of Sec23/240.09165Inherited
beta-sandwich domain of Sec23/240.09165Inherited
Trunk domain of Sec23/240.09165Inherited
Ras-binding domain, RBD0.13Inherited
ARID domain0.13Inherited
Tyrosine-dependent oxidoreductases0.1984Inherited
Spectrin repeat0.224Inherited
RecA protein-like (ATPase-domain)0.24Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2538Inherited
Nicotinic receptor ligand binding domain-like0.2538Inherited
Bromodomain0.2538Inherited
Complement control module/SCR domain0.2538Inherited
DEATH domain, DD0.3249Inherited
Intermediate filament protein, coiled coil region0.3258Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.34Inherited
TNF receptor-like0.368Inherited
Laminin-type module0.368Inherited
SH2 domain0.4111Inherited
Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain)0.4678Inherited
VWC domain0.5346Inherited
PHD domain0.6562Inherited
G proteins0.6802Inherited
Histone lysine methyltransferases0.7135Inherited
Ngr ectodomain-like0.8149Inherited
V set domains (antibody variable domain-like)0.9228Inherited


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
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Zn-finger domain of Sec23/240Direct
Integrin beta tail domain0Direct
Plakin repeat0Direct
SAND domain-like0Direct
Tricorn protease domain 20Direct
RuvA domain 2-like0Direct
BRK domain-like0Direct
ABC transporter transmembrane region0.00086Direct
vWA-like0.004269Inherited
DNA/RNA polymerases0.01161Inherited
GLA-domain0.01161Inherited
MHC antigen-recognition domain0.02249Inherited
Integrin domains0.02249Inherited
Globin-like0.02293Inherited
EGF/Laminin0.06188Inherited
Prefoldin0.06942Inherited
P-loop containing nucleoside triphosphate hydrolases0.0768Inherited
Helical domain of Sec23/240.083Inherited
C-terminal, gelsolin-like domain of Sec23/240.083Inherited
DNA repair protein MutS, domain III0.083Inherited
ARID-like0.1183Inherited
Spectrin repeat0.1948Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.211Inherited
Ribosomal protein S5 domain 2-like0.2148Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2226Inherited
Complement control module/SCR domain0.2226Inherited
Nicotinic receptor ligand binding domain-like0.2226Inherited
Bromodomain0.2226Inherited
Protein kinase-like (PK-like)0.2506Inherited
Intermediate filament protein, coiled coil region0.2722Inherited
DEATH domain0.2722Inherited
RNI-like0.2918Inherited
SH2 domain0.3534Inherited
FnI-like domain0.3711Inherited
Nucleotide-diphospho-sugar transferases0.3915Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.5201Inherited
Adenine nucleotide alpha hydrolases-like0.5741Inherited
Immunoglobulin0.615Inherited
SET domain0.7273Inherited
L domain-like0.8074Inherited
(Trans)glycosidases0.8351Inherited

(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
    53300,49265
  • 53300 - vWA-like
  • 49265 - Fibronectin type III
  • 0Direct
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.00086Direct
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.008036Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.01226Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.02249Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.04413Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.04413Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04413Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.06953Inherited
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0.083Inherited
    48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.083Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.09704Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.1586Inherited
    49265,49265
  • 49265 - Fibronectin type III
  • 49265 - Fibronectin type III
  • 0.1701Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.1944Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.2226Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2722Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.2918Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.5007Inherited

    (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
    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
    57424,57424,50494
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 50494 - Trypsin-like serine proteases
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.006626Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.1369Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1369Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2074Inherited
    49899,49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.3154Inherited


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