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Disease Ontology (DO): monogenic 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)
+ + 2:   disease [DOID:4] <8>
+ 1:   genetic disease [DOID:630] <11>(19|28) (22|16|7)
0:   monogenic disease [DOID:0050177] <7>(17|25) (19|14|6)
- 1:   X-linked disease [DOID:0050735] <14>(0|0) (0|0|0)
- 1:   autosomal genetic disease [DOID:0050739] <8>(17|24) (19|14|6)
- 1:   Alport syndrome [DOID:10983] <3>(0|0) (0|0|0)
- 1:   Opitz-GBBB syndrome [DOID:0050780](0|0) (0|0|0)
- 1:   Tietz syndrome [DOID:0090002](0|0) (0|0|0)
- 1:   Y-linked disease [DOID:0050738](0|0) (0|0|0)
- 1:   hypohidrotic ectodermal dysplasia [DOID:14793](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 domain0.00000003552Direct
Nuclear receptor coactivator interlocking domain0.0001019Direct
Globin-like0.0001738Direct
ABC transporter transmembrane region0.0002845Direct
Triple coiled coil domain of C-type lectins0.002709Inherited
Heme-dependent peroxidases0.01751Inherited
MHC antigen-recognition domain0.01973Inherited
SMAD/FHA domain0.01973Inherited
UBC-like0.02876Inherited
Intermediate filament protein, coiled coil region0.05993Inherited
Protein kinase-like (PK-like)0.2307Inherited
TPR-like0.5727Inherited
GroEL equatorial domain-like0.733Inherited
PDZ domain-like0.8569Inherited
Complement control module/SCR domain0.8569Inherited
Immunoglobulin0.8944Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
p53 DNA-binding domain-like0Direct
L domain0.000008472Direct
Nuclear receptor coactivator interlocking domain0.00007215Direct
Globins0.0001289Direct
ABC transporter transmembrane region0.0002648Direct
ABC transporter ATPase domain-like0.0007943Direct
Single strand DNA-binding domain, SSB0.001983Inherited
Triple coiled coil domain of C-type lectins0.001983Inherited
RecA protein-like (ATPase-domain)0.00315Inherited
Transglutaminase core0.003233Inherited
DNA gyrase/MutL, N-terminal domain0.004591Inherited
DNA gyrase/MutL, second domain0.004591Inherited
Fibronectin type II module0.0053Inherited
Myeloperoxidase-like0.01381Inherited
MHC antigen-recognition domain0.01656Inherited
C1 set domains (antibody constant domain-like)0.01656Inherited
FHA domain0.02117Inherited
UBC-related0.03498Inherited
Intermediate filament protein, coiled coil region0.05284Inherited
Protein kinases, catalytic subunit0.1912Inherited
Tetratricopeptide repeat (TPR)0.4358Inherited
PDZ domain0.5122Inherited
Ras-binding domain, RBD0.7038Inherited
Complement control module/SCR domain0.8364Inherited


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 domain0.00000001708Direct
Nuclear receptor coactivator interlocking domain0.00005979Direct
Globin-like0.0001031Direct
ABC transporter transmembrane region0.0001722Direct
Triple coiled coil domain of C-type lectins0.00178Inherited
Heme-dependent peroxidases0.01257Inherited
MHC antigen-recognition domain0.01427Inherited
SMAD/FHA domain0.01427Inherited
UBC-like0.02128Inherited
Intermediate filament protein, coiled coil region0.04607Inherited
Ubiquitin-like0.1423Inherited
Protein kinase-like (PK-like)0.1922Inherited
p53-like transcription factors0.428Inherited
TPR-like0.5079Inherited
GroEL equatorial domain-like0.6613Inherited
PDZ domain-like0.7851Inherited
Complement control module/SCR domain0.7851Inherited
Immunoglobulin0.8224Inherited

(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
  • 0.000006716Direct
    52058,57184
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.000006716Direct
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0001722Direct
    57944,56436
  • 57944 - Triple coiled coil domain of C-type lectins
  • 56436 - C-type lectin-like
  • 0.00178Inherited
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.00288Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.007707Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.008117Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.05238Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.1328Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.5348Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.8301Inherited
    55785,55785
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.912Inherited

    (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
  • 0.000006716Direct
    57184,52058,57184
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.0004872Direct
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.00288Inherited
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.00288Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.6613Inherited
    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)
  • 0.6613Inherited


    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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