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Phenotypic Abnormality (PA): Abnormality of the face

(show info)

Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

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 head or neck [HP:0000152] <2>(84|104) (94|53|33)
+ 1:   Abnormality of the head [HP:0000234] <6>(83|101) (93|52|33)
0:   Abnormality of the face [HP:0000271] <14>(69|85) (80|44|29)
- 1:   Abnormality of the nose [HP:0000366] <19>(15|19) (20|10|2)
- 1:   Abnormal facial shape [HP:0001999] <16>(6|10) (7|1|0)
- 1:   Abnormality of the forehead [HP:0000290] <16>(5|5) (5|2|1)
- 1:   Abnormality of the chin [HP:0000306] <12>(0|0) (0|0|0)
- 1:   Abnormality of the periorbital region [HP:0000606] <11>(0|1) (0|1|0)
- 1:   Abnormality of facial soft tissue [HP:0011799] <7>(4|3) (4|3|0)
- 1:   Abnormality of the midface [HP:0000309] <5>(2|4) (3|1|1)
- 1:   Abnormality of the orbital region [HP:0000315] <4>(14|23) (18|4|4)
- 1:   Facial cleft [HP:0002006] <4>(1|0) (1|0|0)
- 1:   Abnormal facial expression [HP:0005346] <2>(1|5) (3|2|0)
- 1:   Abnormality of the mouth [HP:0000153] <2>(35|51) (43|29|22)
- 1:   Craniofacial dysostosis [HP:0004439] <2>(0|0) (0|0|0)
- 1:   Abnormality of the submandibular region [HP:0410013] <1>(0|0) (0|0|0)
- 1:   Craniofacial hyperostosis [HP:0004493] <1>(0|0) (0|0|0)


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Superfamily

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
Pseudouridine synthase0Direct
Hect, E3 ligase catalytic domain0Direct
Cytidine deaminase-like0Direct
Helical domain of Sec23/240Direct
CCCH zinc finger0Direct
Toll/Interleukin receptor TIR domain0Direct
Translation proteins SH3-like domain0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Smc hinge domain0Direct
Restriction endonuclease-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
RuvA domain 2-like0Direct
Tricorn protease domain 20Direct
BRK domain-like0Direct
Sm-like ribonucleoproteins0Direct
Rhodanese/Cell cycle control phosphatase0Direct
CalX-like0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
JAB1/MPN domain0Direct
TRAF domain-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
TB module/8-cys domain0Direct
DNA/RNA polymerases0Direct
Plakin repeat0Direct
Integrin beta tail domain0Direct
Ribonuclease H-like0Direct
Tudor/PWWP/MBT0.01407Inherited
Actin-like ATPase domain0.01407Inherited
PX domain0.0665Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.0665Inherited
SET domain0.07464Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.07567Inherited
WW domain0.09596Inherited
ARID-like0.0986Inherited
SNARE fusion complex0.1471Inherited
RNI-like0.1689Inherited
Calcium-dependent phosphotriesterase0.2162Inherited
Myosin rod fragments0.2263Inherited
RNA-binding domain, RBD0.2499Inherited
Alkaline phosphatase-like0.2544Inherited
Intermediate filament protein, coiled coil region0.2698Inherited
TNF receptor-like0.2738Inherited
DEATH domain0.292Inherited
BRCT domain0.2939Inherited
Homeodomain-like0.3084Inherited
MIR domain0.3119Inherited
EGF/Laminin0.3207Inherited
Tropomyosin0.3784Inherited
Sema domain0.3784Inherited
Fibrinogen C-terminal domain-like0.4275Inherited
Bromodomain0.4324Inherited
HMG-box0.4324Inherited
FYVE/PHD zinc finger0.4331Inherited
Glycosyl hydrolase domain0.5202Inherited
Ubiquitin-like0.5582Inherited
WD40 repeat-like0.5639Inherited
Immunoglobulin0.652Inherited
Nicotinic receptor ligand binding domain-like0.7029Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.7029Inherited
GroEL equatorial domain-like0.7936Inherited
Notch domain0.7936Inherited
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0.7936Inherited
L domain-like0.906Inherited
SMAD/FHA domain0.936Inherited
Acyl-CoA N-acyltransferases (Nat)0.9765Inherited
Trypsin-like serine proteases0.9817Inherited
ARM repeat0.992Inherited


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
TB module/8-cys domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
PWWP domain0Direct
Protein serine/threonine phosphatase0Direct
CCCH zinc finger0Direct
Glycosyl transferases group 10Direct
DnaQ-like 3'-5' exonuclease0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Histone lysine methyltransferases0Direct
JAB1/MPN domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
BRK domain-like0Direct
Toll/Interleukin receptor TIR domain0Direct
Hect, E3 ligase catalytic domain0Direct
Zn-finger domain of Sec23/240Direct
beta-glycanases0Direct
Smc hinge domain0Direct
Integrin beta EGF-like domains0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
Fibrinogen coiled-coil and central regions0Direct
Integrin beta tail domain0Direct
Armadillo repeat0Direct
Proteasome subunits0Direct
Clathrin adaptor core protein0Direct
UBA domain0Direct
beta-sandwich domain of Sec23/240Direct
CalX-beta domain0Direct
DNA polymerase I0Direct
Exostosin0Direct
Plakin repeat0Direct
Erythroid transcription factor GATA-10Direct
SWIRM domain0Direct
Trunk domain of Sec23/240Direct
Histone deacetylase, HDAC0Direct
PHD domain0.001784Inherited
Actin/HSP700.03371Inherited
Fibroblast growth factors (FGF)0.04943Inherited
PX domain0.05289Inherited
WW domain0.07981Inherited
ARID domain0.08134Inherited
Protein kinases, catalytic subunit0.104Inherited
Plexin repeat0.1099Inherited
PLC-like (P variant)0.1104Inherited
Transcription factor STAT-4 N-domain0.1239Inherited
SNARE fusion complex0.1239Inherited
STAT DNA-binding domain0.1239Inherited
STAT0.1239Inherited
Clathrin coat assembly domain0.1239Inherited
Pyrin domain, PYD0.1239Inherited
BCR-homology GTPase activation domain (BH-domain)0.1483Inherited
DIX domain0.1876Inherited
p120GAP domain-like0.1876Inherited
28-residue LRR0.1991Inherited
Myosin rod fragments0.1991Inherited
VWC domain0.2028Inherited
Intermediate filament protein, coiled coil region0.2456Inherited
Higher-molecular-weight phosphotyrosine protein phosphatases0.2638Inherited
MIR domain0.2805Inherited
T-box0.285Inherited
Canonical RBD0.2871Inherited
Tropomyosin0.3455Inherited
Sema domain0.3455Inherited
Fibrinogen C-terminal domain-like0.3956Inherited
Arylsulfatase0.3956Inherited
HMG-box0.4182Inherited
Bromodomain0.4182Inherited
GLA-domain0.4452Inherited
Homeodomain0.4735Inherited
SNF-like0.4882Inherited
PDZ domain0.517Inherited
Laminin-type module0.5347Inherited
Globins0.5621Inherited
Spermadhesin, CUB domain0.5726Inherited
C1 set domains (antibody constant domain-like)0.6075Inherited
Meta-cation ATPase, catalytic domain P0.6182Inherited
RecA protein-like (ATPase-domain)0.6461Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6816Inherited
Nicotinic receptor ligand binding domain-like0.6816Inherited
G proteins0.7274Inherited
Notch domain0.7833Inherited
Metal cation-transporting ATPase, ATP-binding domain N0.8146Inherited
ABC transporter ATPase domain-like0.8872Inherited
Eukaryotic proteases0.916Inherited
Ngr ectodomain-like0.9619Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
Plot tree as:   Download Newick format tree:
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

(show details)
Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Pseudouridine synthase0Direct
Ribonuclease H-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Hect, E3 ligase catalytic domain0Direct
Cytidine deaminase-like0Direct
Zn-finger domain of Sec23/240Direct
Integrin beta tail domain0Direct
Helical domain of Sec23/240Direct
Sm-like ribonucleoproteins0Direct
JAB1/MPN domain0Direct
CalX-like0Direct
DNA/RNA polymerases0Direct
TB module/8-cys domain0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Plakin repeat0Direct
Smc hinge domain0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Toll/Interleukin receptor TIR domain0Direct
Tricorn protease domain 20Direct
RuvA domain 2-like0Direct
Restriction endonuclease-like0Direct
BRK domain-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Translation proteins SH3-like domain0Direct
CCCH zinc finger0Direct
TRAF domain-like0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Tudor/PWWP/MBT0.009405Inherited
Actin-like ATPase domain0.009405Inherited
Clavaminate synthase-like0.02076Inherited
Cytokine0.02156Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.05083Inherited
PX domain0.05083Inherited
SET domain0.05751Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.05842Inherited
WW domain0.07576Inherited
ARID-like0.07803Inherited
Plexin repeat0.1052Inherited
SNARE fusion complex0.1205Inherited
STAT0.1205Inherited
Transcription factor STAT-4 N-domain0.1205Inherited
p53-like transcription factors0.129Inherited
RNI-like0.1398Inherited
Calcium-dependent phosphotriesterase0.1829Inherited
Myosin rod fragments0.1924Inherited
RNA-binding domain, RBD0.2142Inherited
Alkaline phosphatase-like0.2184Inherited
Intermediate filament protein, coiled coil region0.2333Inherited
TNF receptor-like0.237Inherited
DEATH domain0.2543Inherited
BRCT domain0.2562Inherited
Homeodomain-like0.2703Inherited
MIR domain0.2735Inherited
EGF/Laminin0.2817Inherited
Sema domain0.3374Inherited
Tropomyosin0.3374Inherited
(Trans)glycosidases0.3414Inherited
Fibrinogen C-terminal domain-like0.3853Inherited
Bromodomain0.39Inherited
HMG-box0.39Inherited
FYVE/PHD zinc finger0.3908Inherited
GLA-domain0.435Inherited
Glycosyl hydrolase domain0.4771Inherited
SNF-like0.4771Inherited
Ubiquitin-like0.5155Inherited
WD40 repeat-like0.5212Inherited
Globin-like0.5509Inherited
Immunoglobulin0.6124Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6647Inherited
Nicotinic receptor ligand binding domain-like0.6647Inherited
Notch domain0.7595Inherited
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0.7595Inherited
GroEL equatorial domain-like0.7595Inherited
DPP6 N-terminal domain-like0.7595Inherited
L domain-like0.8777Inherited
SMAD/FHA domain0.9092Inherited
Acyl-CoA N-acyltransferases (Nat)0.9538Inherited
Trypsin-like serine proteases0.9597Inherited
ARM repeat0.9712Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
54928,90209
  • 54928 - RNA-binding domain, RBD
  • 90209 - Ran binding protein zinc finger-like
  • 0Direct
    55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 domain
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    53300,69179
  • 53300 - vWA-like
  • 69179 - Integrin domains
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    -7,56112
  • -7 - CATH
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57424
  • 57196 - EGF/Laminin
  • 57424 - LDL receptor-like module
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    57196,69687
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.02156Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.06012Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1205Inherited
    48092,47655
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 0.1205Inherited
    49417,55550
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.1205Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1205Inherited
    47655,49417
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.1205Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.1407Inherited
    90257,90257
  • 90257 - Myosin rod fragments
  • 90257 - Myosin rod fragments
  • 0.1407Inherited
    50729,56112
  • 50729 - PH domain-like
  • 56112 - Protein kinase-like (PK-like)
  • 0.1829Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.2487Inherited
    50978,50978
  • 50978 - WD40 repeat-like
  • 50978 - WD40 repeat-like
  • 0.2562Inherited
    55486,82895
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 82895 - TSP-1 type 1 repeat
  • 0.2735Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.3048Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.3374Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.3853Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.455Inherited
    51445,51011
  • 51445 - (Trans)glycosidases
  • 51011 - Glycosyl hydrolase domain
  • 0.4771Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.5417Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.5717Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.6625Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.6647Inherited
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0.7595Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57196,69687
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 69687 - Integrin beta tail domain
  • 0Direct
    81995,81811,82754
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    63825,57196,57424
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 57424 - LDL receptor-like module
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57424,57184,63825
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 63825 - YWTD domain
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    63825,57196,63825
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    49899,57196,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57581,57184,57581
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57424,57424
  • 57196 - EGF/Laminin
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 0Direct
    57424,57424,57184
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 0Direct
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1205Inherited
    48092,47655,49417
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.1205Inherited
    47655,49417,55550
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.1205Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.2998Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.6625Inherited
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0.7595Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.9092Inherited


    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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