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Disease Ontology (DO): autosomal genetic disease

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

Root: DO Hierarchy (disease ontology from University of Maryland)

Shortest distance to current term (+ for parents, - for children) DO term [DO ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + + 3:   disease [DOID:4] <8>
+ + 2:   genetic disease [DOID:630] <11>(19|28) (22|16|7)
+ 1:   monogenic disease [DOID:0050177] <7>(17|25) (19|14|6)
0:   autosomal genetic disease [DOID:0050739] <8>(17|24) (19|14|6)
- 1:   autosomal recessive disease [DOID:0050737] <89>(10|11) (10|6|3)
- 1:   autosomal dominant disease [DOID:0050736] <79>(7|13) (9|8|3)
- 1:   Matthew-Wood syndrome [DOID:0050819](0|0) (0|0|0)
- 1:   Weill-Marchesani syndrome [DOID:0050475](0|0) (0|0|0)
- 1:   brachydactyly-syndactyly syndrome [DOID:0050689](0|0) (0|0|0)
- 1:   factor XI deficiency [DOID:2229](0|0) (0|0|0)
- 1:   factor XII deficiency [DOID:2231](0|0) (0|0|0)
- 1:   septooptic dysplasia [DOID:0060857](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
BRCT domain0.00000002068Direct
Nuclear receptor coactivator interlocking domain0.00008345Direct
Globin-like0.0001335Direct
Triple coiled coil domain of C-type lectins0.002337Inherited
GroEL equatorial domain-like0.01552Inherited
Heme-dependent peroxidases0.01552Inherited
MHC antigen-recognition domain0.01611Inherited
SMAD/FHA domain0.01611Inherited
UBC-like0.0244Inherited
Intermediate filament protein, coiled coil region0.04934Inherited
Complement control module/SCR domain0.1562Inherited
Protein kinase-like (PK-like)0.4947Inherited
TPR-like0.5242Inherited
ABC transporter transmembrane region0.8204Inherited
Immunoglobulin0.8256Inherited
PDZ domain-like0.9009Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
p53 DNA-binding domain-like0Direct
L domain0.00000655Direct
Nuclear receptor coactivator interlocking domain0.00005874Direct
Globins0.00009967Direct
ABC transporter transmembrane region0.0001897Direct
Single strand DNA-binding domain, SSB0.001703Inherited
Triple coiled coil domain of C-type lectins0.001703Inherited
RecA protein-like (ATPase-domain)0.002562Inherited
Transglutaminase core0.002693Inherited
DNA gyrase/MutL, N-terminal domain0.003963Inherited
DNA gyrase/MutL, second domain0.003963Inherited
Fibronectin type II module0.004487Inherited
Myeloperoxidase-like0.01207Inherited
MHC antigen-recognition domain0.01327Inherited
C1 set domains (antibody constant domain-like)0.01327Inherited
FHA domain0.0182Inherited
UBC-related0.03Inherited
Intermediate filament protein, coiled coil region0.04282Inherited
Complement control module/SCR domain0.1405Inherited
Ras-binding domain, RBD0.1538Inherited
Tetratricopeptide repeat (TPR)0.3992Inherited
Protein kinases, catalytic subunit0.5177Inherited
PDZ domain0.8665Inherited


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)
p53 tetramerization domain0Direct
BRCT domain0.000000009794Direct
Nuclear receptor coactivator interlocking domain0.00004872Direct
Globin-like0.00007952Direct
Triple coiled coil domain of C-type lectins0.001538Inherited
Ubiquitin-like0.004493Inherited
Heme-dependent peroxidases0.01102Inherited
GroEL equatorial domain-like0.01102Inherited
MHC antigen-recognition domain0.01147Inherited
SMAD/FHA domain0.01147Inherited
UBC-like0.01787Inherited
p53-like transcription factors0.02176Inherited
Intermediate filament protein, coiled coil region0.03747Inherited
Complement control module/SCR domain0.1266Inherited
Protein kinase-like (PK-like)0.4347Inherited
TPR-like0.4622Inherited
ABC transporter transmembrane region0.7482Inherited
Immunoglobulin0.7532Inherited
PDZ domain-like0.8297Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
49417,47719
  • 49417 - p53-like transcription factors
  • 47719 - p53 tetramerization domain
  • 0Direct
    52113,52113
  • 52113 - BRCT domain
  • 52113 - BRCT domain
  • 0Direct
    57184,52058
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 0.000005215Direct
    52058,57184
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.000005215Direct
    57944,56436
  • 57944 - Triple coiled coil domain of C-type lectins
  • 56436 - C-type lectin-like
  • 0.001538Inherited
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.002398Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.004766Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.006307Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.006633Inherited
    55785,55785
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.01642Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.04436Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.1172Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.1184Inherited
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.7482Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52058,57184,52058
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 0.000005215Direct
    57184,52058,57184
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.000414Direct
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.002398Inherited
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.002398Inherited
    47459,55785,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.01102Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.2379Inherited


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