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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|36|15)
+ 1:   Abnormality of the skin [HP:0000951] <4>(34|55) (45|35|12)
0:   Abnormality of skin morphology [HP:0011121] <22>(29|49) (40|30|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
Integrin beta tail domain0Direct
Plakin repeat0Direct
SAND domain-like0Direct
Zn-finger domain of Sec23/240Direct
Apolipoprotein A-I0Direct
Tricorn protease domain 20Direct
RuvA domain 2-like0Direct
DHS-like NAD/FAD-binding domain0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
ABC transporter transmembrane region0.002576Inherited
Intermediate filament protein, coiled coil region0.00967Inherited
DNA/RNA polymerases0.01178Inherited
Integrin domains0.02123Inherited
Globin-like0.02351Inherited
Spectrin repeat0.02367Inherited
EGF/Laminin0.02995Inherited
ARID-like0.1156Inherited
Prefoldin0.1292Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1781Inherited
Nicotinic receptor ligand binding domain-like0.1781Inherited
FnI-like domain0.332Inherited
HMG-box0.5621Inherited
Complement control module/SCR domain0.5621Inherited
(Trans)glycosidases0.5906Inherited
RNI-like0.6834Inherited
alpha/beta-Hydrolases0.9785Inherited
DEATH domain1Inherited
Immunoglobulin1Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Ferredoxin reductase FAD-binding domain-like0Direct
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
ets domain0Direct
Integrin beta tail domain0Direct
Zn-finger domain of Sec23/240Direct
Histone deacetylase, HDAC0Direct
Proteasome subunits0Direct
Dimeric isocitrate & isopropylmalate dehydrogenases0Direct
Exostosin0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Integrin beta EGF-like domains0Direct
Apolipoprotein A-I0Direct
Plakin repeat0Direct
Integrin A (or I) domain0.0002305Direct
Intermediate filament protein, coiled coil region0.008361Inherited
GLA-domain0.008809Inherited
Integrin domains0.01685Inherited
Globins0.01831Inherited
DnaQ-like 3'-5' exonuclease0.01831Inherited
Spectrin repeat0.01962Inherited
EGF-type module0.0377Inherited
Trunk domain of Sec23/240.07276Inherited
beta-sandwich domain of Sec23/240.07276Inherited
Helical domain of Sec23/240.07276Inherited
C-terminal, gelsolin-like domain of Sec23/240.07276Inherited
Ras-binding domain, RBD0.1002Inherited
ARID domain0.1002Inherited
Histone lysine methyltransferases0.1212Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1655Inherited
Nicotinic receptor ligand binding domain-like0.1655Inherited
Laminin-type module0.1811Inherited
VWC domain0.1831Inherited
G proteins0.2213Inherited
RecA protein-like (ATPase-domain)0.2669Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.2774Inherited
Discoidin domain (FA58C, coagulation factor 5/8 C-terminal domain)0.4036Inherited
PHD domain0.4951Inherited
HMG-box0.5226Inherited
Tyrosine-dependent oxidoreductases0.5226Inherited
Complement control module/SCR domain0.5226Inherited
Bromodomain0.5822Inherited
DEATH domain, DD0.65Inherited
Erythroid transcription factor GATA-10.6871Inherited
Ngr ectodomain-like0.8115Inherited
MHC antigen-recognition domain0.912Inherited
V set domains (antibody variable domain-like)0.9128Inherited
TNF receptor-like0.9516Inherited
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)
SAND domain-like0Direct
Integrin beta tail domain0Direct
DHS-like NAD/FAD-binding domain0Direct
Tricorn protease domain 20Direct
Notch domain0Direct
RuvA domain 2-like0Direct
Plakin repeat0Direct
Zn-finger domain of Sec23/240Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Apolipoprotein A-I0Direct
ABC transporter transmembrane region0.001474Inherited
Intermediate filament protein, coiled coil region0.006214Inherited
GLA-domain0.007676Inherited
DNA/RNA polymerases0.007676Inherited
Integrin domains0.01453Inherited
Globin-like0.01622Inherited
Spectrin repeat0.01634Inherited
EGF/Laminin0.02102Inherited
Helical domain of Sec23/240.06669Inherited
C-terminal, gelsolin-like domain of Sec23/240.06669Inherited
ARID-like0.09168Inherited
Prefoldin0.104Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1471Inherited
Nicotinic receptor ligand binding domain-like0.1471Inherited
4-helical cytokines0.2367Inherited
FnI-like domain0.2908Inherited
Adenine nucleotide alpha hydrolases-like0.3815Inherited
Protein kinase-like (PK-like)0.4451Inherited
Nucleotide-diphospho-sugar transferases0.492Inherited
HMG-box0.5186Inherited
Complement control module/SCR domain0.5186Inherited
(Trans)glycosidases0.5477Inherited
Bromodomain0.578Inherited
P-loop containing nucleoside triphosphate hydrolases0.615Inherited
RNI-like0.644Inherited
MHC antigen-recognition domain0.9008Inherited
L domain-like0.9399Inherited
alpha/beta-Hydrolases0.9559Inherited
Immunoglobulin0.9899Inherited
DEATH domain0.998Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    53300,69179
  • 53300 - vWA-like
  • 69179 - Integrin domains
  • 0Direct
    57196,69687
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 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
    49265,53300
  • 49265 - Fibronectin type III
  • 53300 - vWA-like
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 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
  • 0.001474Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02008Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.03307Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.03307Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.04478Inherited
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0.06669Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.09168Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1062Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1118Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.1471Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.4422Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.5477Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.9008Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.9201Inherited
    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)
    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
    57424,57424,50494
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 50494 - Trypsin-like serine proteases
  • 0Direct
    57196,57196,69687
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    49265,49265,53300
  • 49265 - Fibronectin type III
  • 49265 - Fibronectin type III
  • 53300 - vWA-like
  • 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
  • 0.003629Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.03553Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.104Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1415Inherited
    49899,49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.2593Inherited


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