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Phenotypic Abnormality (PA): Abnormality of immune system physiology

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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 immune system [HP:0002715] <3>(38|52) (40|29|16)
0:   Abnormality of immune system physiology [HP:0010978] <14>(29|37) (31|22|11)
- 1:   Unusual infection [HP:0032101] <11>(15|19) (17|6|0)
- 1:   Autoimmunity [HP:0002960] <7>(4|4) (4|4|5)
- 1:   Immunologic hypersensitivity [HP:0100326] <6>(0|0) (0|0|0)
- 1:   Abnormal lymphocyte physiology [HP:0031409] <5>(5|6) (5|2|0)
- 1:   Abnormality of humoral immunity [HP:0005368] <4>(13|15) (13|9|5)
- 1:   Abnormality of immune serum protein physiology [HP:0011111] <3>(0|0) (0|0|0)
- 1:   Immunodeficiency [HP:0002721] <3>(0|0) (0|0|0)
- 1:   Impaired antigen-specific response [HP:0031404] <3>(0|0) (0|0|0)
- 1:   Abnormal MHC II surface expression [HP:0031389] <2>(0|0) (0|0|0)
- 1:   Abnormal inflammatory response [HP:0012647] <2>(17|20) (18|11|3)
- 1:   Abnormal lymphocyte surface marker expression [HP:0031383] <2>(0|0) (0|0|0)
- 1:   Abnormal phagocytosis [HP:0010977] <1>(0|0) (0|0|0)
- 1:   Sepsis [HP:0100806] <1>(0|0) (0|0|0)
- 1:   Immune dysregulation [HP:0002958](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Tricorn protease domain 20Direct
Anaphylotoxins (complement system)0Direct
Restriction endonuclease-like0Direct
Lipoxigenase0Direct
DEATH domain0.00000002303Direct
Complement control module/SCR domain0.0002782Direct
TNF-like0.001269Inherited
DNA/RNA polymerases0.002762Inherited
TNF receptor-like0.006122Inherited
Terpenoid cyclases/Protein prenyltransferases0.04821Inherited
Transcription factor STAT-4 N-domain0.05038Inherited
STAT0.05038Inherited
Alpha-macroglobulin receptor domain0.05085Inherited
TIMP-like0.08768Inherited
TSP-1 type 1 repeat0.1626Inherited
RNI-like0.1727Inherited
MHC antigen-recognition domain0.2314Inherited
(Trans)glycosidases0.3055Inherited
Cysteine-rich domain0.3608Inherited
Trypsin-like serine proteases0.3812Inherited
LDL receptor-like module0.4129Inherited
Immunoglobulin0.4559Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.4841Inherited
SH2 domain0.5118Inherited
4-helical cytokines0.5784Inherited
Spermadhesin, CUB domain0.6669Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.7087Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.9671Inherited
ABC transporter transmembrane region0.9845Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Proteasome subunits0Direct
Animal lipoxigenases0Direct
Formate/glycerate dehydrogenases, substrate-binding domain0Direct
Netrin-like domain (NTR/C345C module)0Direct
beta-glycanases0Direct
XPF/Rad1/Mus81 nuclease0Direct
Anaphylotoxins (complement system)0Direct
Interferon regulatory factor 3 (IRF3), transactivation domain0Direct
Complement control module/SCR domain0.0001717Direct
DEATH domain, DD0.0002572Direct
TNF-like0.0007971Direct
28-residue LRR0.008808Inherited
Pyrin domain, PYD0.01266Inherited
TNF receptor-like0.0191Inherited
Rel/Dorsal transcription factors, DNA-binding domain0.03184Inherited
Transcription factor STAT-4 N-domain0.03935Inherited
STAT DNA-binding domain0.03935Inherited
STAT0.03935Inherited
Alpha-macroglobulin receptor domain0.04006Inherited
Complement components0.04006Inherited
Eukaryotic proteases0.07152Inherited
Caspase recruitment domain, CARD0.0841Inherited
C1 set domains (antibody constant domain-like)0.1175Inherited
TSP-1 type 1 repeat0.1413Inherited
Noncollagenous (NC1) domain of collagen IV0.1503Inherited
PHD domain0.1628Inherited
MHC antigen-recognition domain0.1921Inherited
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain)0.3707Inherited
Arylsulfatase0.3707Inherited
LDL receptor-like module0.386Inherited
SH2 domain0.4568Inherited
Notch domain0.5144Inherited
RecA protein-like (ATPase-domain)0.5144Inherited
PLC-like (P variant)0.5915Inherited
Spermadhesin, CUB domain0.6425Inherited
ABC transporter transmembrane region0.7923Inherited
ABC transporter ATPase domain-like1Inherited


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)
Tricorn protease domain 20Direct
Anaphylotoxins (complement system)0Direct
Restriction endonuclease-like0Direct
Lipoxigenase0Direct
DEATH domain0.000000008839Direct
Complement control module/SCR domain0.0001361Direct
TNF-like0.0006848Direct
DNA/RNA polymerases0.001589Inherited
TNF receptor-like0.003788Inherited
Terpenoid cyclases/Protein prenyltransferases0.03534Inherited
Transcription factor STAT-4 N-domain0.03713Inherited
STAT0.03713Inherited
Alpha-macroglobulin receptor domain0.03754Inherited
TIMP-like0.06802Inherited
TSP-1 type 1 repeat0.1333Inherited
RNI-like0.1423Inherited
MHC antigen-recognition domain0.196Inherited
(Trans)glycosidases0.2655Inherited
Cysteine-rich domain0.3185Inherited
Trypsin-like serine proteases0.3382Inherited
LDL receptor-like module0.3694Inherited
Immunoglobulin0.4121Inherited
Snake toxin-like0.4404Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.4404Inherited
SH2 domain0.4672Inherited
Notch domain0.5168Inherited
4-helical cytokines0.5355Inherited
Spermadhesin, CUB domain0.6267Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.6699Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.9431Inherited
ABC transporter transmembrane region0.9625Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    82895,57424
  • 82895 - TSP-1 type 1 repeat
  • 57424 - LDL receptor-like module
  • 0Direct
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0Direct
    49723,48484
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 48484 - Lipoxigenase
  • 0Direct
    49410,50242
  • 49410 - Alpha-macroglobulin receptor domain
  • 50242 - TIMP-like
  • 0Direct
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.000003253Direct
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.001072Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.01188Inherited
    49854,57535
  • 49854 - Spermadhesin, CUB domain
  • 57535 - Complement control module/SCR domain
  • 0.03018Inherited
    57535,50494
  • 57535 - Complement control module/SCR domain
  • 50494 - Trypsin-like serine proteases
  • 0.03018Inherited
    49417,81296
  • 49417 - p53-like transcription factors
  • 81296 - E set domains
  • 0.03018Inherited
    47655,49417
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.03713Inherited
    49417,55550
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.03713Inherited
    48092,47655
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 0.03713Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08023Inherited
    49854,57196
  • 49854 - Spermadhesin, CUB domain
  • 57196 - EGF/Laminin
  • 0.08023Inherited
    57196,49854
  • 57196 - EGF/Laminin
  • 49854 - Spermadhesin, CUB domain
  • 0.145Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.196Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.2969Inherited
    55550,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0.3185Inherited
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.9625Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    50729,55550,56112
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    55550,56112,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.00005746Direct
    57196,49854,57535
  • 57196 - EGF/Laminin
  • 49854 - Spermadhesin, CUB domain
  • 57535 - Complement control module/SCR domain
  • 0.03018Inherited
    49854,57535,57535
  • 49854 - Spermadhesin, CUB domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.03018Inherited
    57535,57535,50494
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 50494 - Trypsin-like serine proteases
  • 0.03018Inherited
    48092,47655,49417
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.03713Inherited
    47655,49417,55550
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.03713Inherited
    49854,57196,49854
  • 49854 - Spermadhesin, CUB domain
  • 57196 - EGF/Laminin
  • 49854 - Spermadhesin, CUB domain
  • 0.08023Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1252Inherited
    50044,55550,56112
  • 50044 - SH3-domain
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0.5168Inherited


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