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Phenotypic Abnormality (PA): Abnormality of skin morphology

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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)
+ + + 3:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of the integument [HP:0001574] <4>(48|69) (59|37|15)
+ 1:   Abnormality of the skin [HP:0000951] <4>(34|55) (45|36|12)
0:   Abnormality of skin morphology [HP:0011121] <22>(29|49) (40|31|11)
- 1:   Localized skin lesion [HP:0011355] <29>(12|20) (18|10|6)
- 1:   Abnormality of skin pigmentation [HP:0001000] <17>(2|8) (4|2|0)
- 1:   Generalized abnormality of skin [HP:0011354] <12>(8|12) (12|4|1)
- 1:   Regional abnormality of skin [HP:0011356] <11>(6|9) (8|5|1)
- 1:   Abnormality of epidermal morphology [HP:0011124] <5>(1|1) (1|0|0)
- 1:   Abnormal blistering of the skin [HP:0008066] <4>(3|2) (3|3|1)
- 1:   Abnormal cutaneous elastic fiber morphology [HP:0025082] <4>(0|0) (0|0|0)
- 1:   Abnormal dermoepidermal junction morphology [HP:0031538] <4>(0|0) (0|0|0)
- 1:   Thickened skin [HP:0001072] <4>(3|6) (3|6|2)
- 1:   Abnormal elasticity of skin [HP:0010647] <3>(0|2) (0|1|0)
- 1:   Abnormal cutaneous collagen fibril morphology [HP:0031512] <2>(0|0) (0|0|0)
- 1:   Lichenification [HP:0100725] <1>(1|0) (1|0|0)
- 1:   Pallor [HP:0000980] <1>(1|1) (1|0|0)
- 1:   Dermal translucency [HP:0010648](0|0) (0|0|0)
- 1:   Dry skin [HP:0000958](0|0) (0|0|0)
- 1:   Elevated dermal desmosine content [HP:0025083](0|0) (0|0|0)
- 1:   Flaky paint dermatosis [HP:0032178](0|0) (0|0|0)
- 1:   Keratosis pilaris [HP:0032152](1|1) (1|0|0)
- 1:   Maceration [HP:0032007](0|0) (0|0|0)
- 1:   Ochronosis [HP:0030764](0|0) (0|0|0)
- 1:   Poikiloderma [HP:0001029](0|0) (0|0|0)
- 1:   Stiff skin [HP:0030053](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
Tricorn protease domain 20Direct
DHS-like NAD/FAD-binding domain0Direct
RuvA domain 2-like0Direct
Plakin repeat0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Integrin beta tail domain0Direct
SAND domain-like0Direct
Apolipoprotein A-I0Direct
Zn-finger domain of Sec23/240Direct
ABC transporter transmembrane region0.002587Inherited
Intermediate filament protein, coiled coil region0.009743Inherited
DNA/RNA polymerases0.01182Inherited
Integrin domains0.02131Inherited
Globin-like0.02357Inherited
Spectrin repeat0.02377Inherited
EGF/Laminin0.03016Inherited
ARID-like0.1158Inherited
Prefoldin0.1295Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1784Inherited
Nicotinic receptor ligand binding domain-like0.1784Inherited
FnI-like domain0.3326Inherited
Complement control module/SCR domain0.5623Inherited
HMG-box0.5623Inherited
(Trans)glycosidases0.5908Inherited
RNI-like0.6836Inherited
alpha/beta-Hydrolases0.9787Inherited
Immunoglobulin1Inherited
DEATH domain1Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
Proteasome subunits0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Apolipoprotein A-I0Direct
Integrin beta EGF-like domains0Direct
ets domain0Direct
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Plakin repeat0Direct
Exostosin0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Dimeric isocitrate & isopropylmalate dehydrogenases0Direct
Integrin beta tail domain0Direct
Integrin A (or I) domain0.0002324Direct
Intermediate filament protein, coiled coil region0.008429Inherited
GLA-domain0.008841Inherited
Integrin domains0.01691Inherited
Globins0.01837Inherited
DnaQ-like 3'-5' exonuclease0.01837Inherited
Spectrin repeat0.0197Inherited
EGF-type module0.03795Inherited
C-terminal, gelsolin-like domain of Sec23/240.07295Inherited
Helical domain of Sec23/240.07295Inherited
beta-sandwich domain of Sec23/240.07295Inherited
Trunk domain of Sec23/240.07295Inherited
ARID domain0.1003Inherited
Ras-binding domain, RBD0.1003Inherited
Histone lysine methyltransferases0.1214Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.166Inherited
Nicotinic receptor ligand binding domain-like0.166Inherited
Laminin-type module0.1815Inherited
VWC domain0.1834Inherited
G proteins0.2216Inherited
RecA protein-like (ATPase-domain)0.2673Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.2777Inherited
Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain)0.404Inherited
PHD domain0.4954Inherited
Tyrosine-dependent oxidoreductases0.523Inherited
Complement control module/SCR domain0.523Inherited
HMG-box0.523Inherited
Bromodomain0.5825Inherited
DEATH domain, DD0.6502Inherited
Erythroid transcription factor GATA-10.6874Inherited
Ngr ectodomain-like0.812Inherited
MHC antigen-recognition domain0.9121Inherited
V set domains (antibody variable domain-like)0.913Inherited
TNF receptor-like0.9517Inherited
C1 set domains (antibody constant domain-like)1Inherited


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)
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
Zn-finger domain of Sec23/240Direct
Integrin beta tail domain0Direct
ABC transporter transmembrane region0.00148Inherited
Intermediate filament protein, coiled coil region0.006255Inherited
GLA-domain0.007694Inherited
DNA/RNA polymerases0.007694Inherited
Integrin domains0.01457Inherited
Globin-like0.01626Inherited
Spectrin repeat0.01639Inherited
EGF/Laminin0.02116Inherited
Helical domain of Sec23/240.06681Inherited
C-terminal, gelsolin-like domain of Sec23/240.06681Inherited
ARID-like0.09182Inherited
Prefoldin0.1042Inherited
Nicotinic receptor ligand binding domain-like0.1474Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1474Inherited
4-helical cytokines0.237Inherited
FnI-like domain0.2913Inherited
Adenine nucleotide alpha hydrolases-like0.3821Inherited
Protein kinase-like (PK-like)0.4458Inherited
Nucleotide-diphospho-sugar transferases0.4923Inherited
HMG-box0.5189Inherited
Complement control module/SCR domain0.5189Inherited
(Trans)glycosidases0.5479Inherited
Bromodomain0.5782Inherited
P-loop containing nucleoside triphosphate hydrolases0.6158Inherited
RNI-like0.6443Inherited
MHC antigen-recognition domain0.901Inherited
L domain-like0.9402Inherited
alpha/beta-Hydrolases0.956Inherited
Immunoglobulin0.9898Inherited
DEATH domain0.998Inherited

(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
    57196,69687
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 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
    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
  • 0.00148Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02014Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.03313Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.03313Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.04489Inherited
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0.06681Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.09182Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1066Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.112Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.1474Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.4424Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.5479Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.901Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.9202Inherited
    49265,49265
  • 49265 - Fibronectin type III
  • 49265 - Fibronectin type III
  • 0.989Inherited

    (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
    57424,57424,50494
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 50494 - Trypsin-like serine proteases
  • 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
    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
  • 0.003641Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.03561Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1042Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1417Inherited
    49899,49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.2597Inherited


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