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Disease Ontology (DO): genetic disease

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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)
+ 1:   disease [DOID:4] <8>
0:   genetic disease [DOID:630] <11>(19|28) (22|16|7)
- 1:   maturity-onset diabetes of the young [DOID:0050524] <13>(0|0) (0|0|0)
- 1:   chromosomal disease [DOID:0080014] <9>(2|2) (2|1|0)
- 1:   orofaciodigital syndrome [DOID:4501] <9>(0|0) (0|0|0)
- 1:   monogenic disease [DOID:0050177] <7>(17|25) (19|14|6)
- 1:   chondrodysplasia punctata [DOID:2581] <3>(0|0) (0|0|0)
- 1:   ciliopathy [DOID:0060340] <3>(0|0) (1|1|1)
- 1:   Coffin-Siris syndrome [DOID:1925](0|0) (0|0|0)
- 1:   Cornelia de Lange syndrome [DOID:11725](0|0) (0|0|0)
- 1:   malignant hyperthermia [DOID:8545](0|0) (0|0|0)
- 1:   multiple pterygium syndrome [DOID:0080110](0|0) (0|0|0)
- 1:   ocular albinism with sensorineural deafness [DOID:0090100](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 domain0.0000001952Direct
Nuclear receptor coactivator interlocking domain0.0001867Direct
Globin-like0.0003933Direct
ABC transporter transmembrane region0.0008357Direct
Protein kinase-like (PK-like)0.002693Inherited
GroEL equatorial domain-like0.00414Inherited
Triple coiled coil domain of C-type lectins0.004258Inherited
Heme-dependent peroxidases0.02591Inherited
MHC antigen-recognition domain0.03828Inherited
SMAD/FHA domain0.03828Inherited
UBC-like0.04877Inherited
Complement control module/SCR domain0.07993Inherited
Intermediate filament protein, coiled coil region0.1066Inherited
Nicotinic receptor ligand binding domain-like0.3696Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3696Inherited
PDZ domain-like0.4856Inherited
TPR-like0.7219Inherited
Immunoglobulin0.9713Inherited


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 domain0.00001819Direct
Nuclear receptor coactivator interlocking domain0.0001296Direct
Globins0.0002833Direct
ABC transporter transmembrane region0.0006841Direct
Nucleoside diphosphate kinase, NDK0.0008845Direct
ABC transporter ATPase domain-like0.002516Inherited
Single strand DNA-binding domain, SSB0.0031Inherited
Triple coiled coil domain of C-type lectins0.0031Inherited
Transglutaminase core0.005426Inherited
RecA protein-like (ATPase-domain)0.005723Inherited
DNA gyrase/MutL, N-terminal domain0.006932Inherited
DNA gyrase/MutL, second domain0.006932Inherited
Fibronectin type II module0.008847Inherited
Protein kinases, catalytic subunit0.0132Inherited
Myeloperoxidase-like0.02053Inherited
MHC antigen-recognition domain0.03188Inherited
C1 set domains (antibody constant domain-like)0.03188Inherited
FHA domain0.03391Inherited
UBC-related0.05475Inherited
Complement control module/SCR domain0.06968Inherited
Intermediate filament protein, coiled coil region0.0938Inherited
Ras-binding domain, RBD0.09568Inherited
PDZ domain0.3227Inherited
Nicotinic receptor ligand binding domain-like0.3444Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3444Inherited
Tetratricopeptide repeat (TPR)0.5535Inherited


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 domain0.00000009735Direct
Nuclear receptor coactivator interlocking domain0.0001113Direct
Globin-like0.0002404Direct
ABC transporter transmembrane region0.0005206Direct
Protein kinase-like (PK-like)0.001773Inherited
GroEL equatorial domain-like0.00279Inherited
Triple coiled coil domain of C-type lectins0.002868Inherited
Ubiquitin-like0.01226Inherited
Heme-dependent peroxidases0.01905Inherited
p53-like transcription factors0.0208Inherited
MHC antigen-recognition domain0.02867Inherited
SMAD/FHA domain0.02867Inherited
UBC-like0.03699Inherited
P-loop containing nucleoside triphosphate hydrolases0.05555Inherited
Complement control module/SCR domain0.06278Inherited
Intermediate filament protein, coiled coil region0.08492Inherited
Nicotinic receptor ligand binding domain-like0.3182Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3182Inherited
PDZ domain-like0.4259Inherited
TPR-like0.6501Inherited
Immunoglobulin0.903Inherited

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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
  • 0.00001496Direct
    52058,57184
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.00001496Direct
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0005206Direct
    55785,55785
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.0005778Direct
    52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.00171Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.002204Inherited
    57944,56436
  • 57944 - Triple coiled coil domain of C-type lectins
  • 56436 - C-type lectin-like
  • 0.002868Inherited
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.004971Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.01191Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.01654Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.04539Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.08623Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.1936Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.3182Inherited

    (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
  • 0.00001496Direct
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0004928Direct
    57184,52058,57184
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.000811Direct
    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)
  • 0.00279Inherited
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.004971Inherited
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.004971Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.1746Inherited


    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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