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Phenotypic Abnormality (PA): Abnormality of the respiratory system  
(show info)
Biomedical Ontology
Like Gene Ontology (GO), biomedical ontology such as phenotype ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Biomedical ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI’s thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology Based on YP which is the major contributor to the ‘Ascomycete phenotype ontology’, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- UniProtKB KeyWords (KW) Ontology Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- CTD Diseases (CD) Ontology CD is MEDIC disease vocabulary that is modified by CTD from the "Diseases" [C] branch of Medical Subject Headings (MeSH), combined with genetic disorders from the Online Mendelian Inheritance in OMIM database.
- CTD Chemicals (CC) Ontology CC is chemical vocabulary that is adapted by CTD from the "Chemicals and Drugs" category and Supplementary Concept Records of Medical Subject Headings (MeSH, a hierarchical vocabulary used to index articles for MEDLINE/PubMed).
Jump to [ Top · Hierarchy · Annotations ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Hierarchy ]
Supra-domain (Single)( show details)
Highlighted in gray are those with FDR>0.001
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
Jump to [ Top · Hierarchy ]
Supra-domain (Duplex) in N- to C-terminal order( show details)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
50729,55550 50729 - PH domain-like 55550 - SH2 domain | 0 | DIRECT |
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | DIRECT |
54928,90209 54928 - RNA-binding domain, RBD 90209 - Ran binding protein zinc finger-like | 0 | DIRECT |
49265,48726 49265 - Fibronectin type III 48726 - Immunoglobulin | 0 | DIRECT |
49723,48484 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain) 48484 - Lipoxigenase | 0 | DIRECT |
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
49417,81296 49417 - p53-like transcription factors 81296 - E set domains | 0 | DIRECT |
55550,55550 55550 - SH2 domain 55550 - SH2 domain | 0 | DIRECT |
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat | 0 | DIRECT |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0 | DIRECT |
56112,56112 56112 - Protein kinase-like (PK-like) 56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
49417,55550 49417 - p53-like transcription factors 55550 - SH2 domain | 0.0115 | INHERITED FROM: Abnormal lung morphology |
47655,49417 47655 - STAT 49417 - p53-like transcription factors | 0.0115 | INHERITED FROM: Abnormal lung morphology |
48092,47655 48092 - Transcription factor STAT-4 N-domain 47655 - STAT | 0.0115 | INHERITED FROM: Abnormal lung morphology |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.0253 | INHERITED FROM: Abnormal tracheobronchial morphology || Abnormal trachea morphology |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.0253 | INHERITED FROM: Abnormal tracheobronchial morphology || Abnormal trachea morphology |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.02738 | INHERITED FROM: Abnormality of the pulmonary vasculature || Abnormality of the pulmonary artery |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.07879 | INHERITED FROM: Abnormality of the pulmonary vasculature |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.1023 | INHERITED FROM: Reduced vital capacity || Orthopnea || Exertional dyspnea |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.1296 | INHERITED FROM: Pulmonary infiltrates || Abnormality of the pleura || Pulmonary fibrosis || Abnormal sputum || Cough || Restrictive ventilatory defect |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.1338 | INHERITED FROM: Respiratory insufficiency due to muscle weakness || Hypoventilation || Nocturnal hypoventilation || Weakness of muscles of respiration || Respiratory failure || Recurrent lower respiratory tract infections |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.2156 | INHERITED FROM: Laryngeal stridor |
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0.299 | INHERITED FROM: Abnormal larynx physiology || Weakness of muscles of respiration || Laryngospasm |
90123,52540 90123 - ABC transporter transmembrane region 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.7456 | INHERITED FROM: Recurrent acute respiratory tract infection || Bronchitis || Emphysema |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
50729,55550 50729 - PH domain-like 55550 - SH2 domain | 0 | Direct |
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | Direct |
54928,90209 54928 - RNA-binding domain, RBD 90209 - Ran binding protein zinc finger-like | 0 | Direct |
49265,48726 49265 - Fibronectin type III 48726 - Immunoglobulin | 0 | Direct |
49723,48484 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain) 48484 - Lipoxigenase | 0 | Direct |
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
49417,81296 49417 - p53-like transcription factors 81296 - E set domains | 0 | Direct |
55550,55550 55550 - SH2 domain 55550 - SH2 domain | 0 | Direct |
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat | 0 | Direct |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0 | Direct |
56112,56112 56112 - Protein kinase-like (PK-like) 56112 - Protein kinase-like (PK-like) | 0 | Direct |
49417,55550 49417 - p53-like transcription factors 55550 - SH2 domain | 0.0115 | Inherited |
47655,49417 47655 - STAT 49417 - p53-like transcription factors | 0.0115 | Inherited |
48092,47655 48092 - Transcription factor STAT-4 N-domain 47655 - STAT | 0.0115 | Inherited |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.0253 | Inherited |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.0253 | Inherited |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.02738 | Inherited |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.07879 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.1023 | Inherited |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.1296 | Inherited |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.1338 | Inherited |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.2156 | Inherited |
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD | 0.299 | Inherited |
90123,52540 90123 - ABC transporter transmembrane region 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.7456 | Inherited |
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
Jump to [ Top · Hierarchy ]
Supra-domain (Triple) in N- to C-terminal order( show details)
Highlighted in gray are those with FDR>0.001
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
48726,49265,48726 48726 - Immunoglobulin 49265 - Fibronectin type III 48726 - Immunoglobulin | 0 | DIRECT |
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
55550,56112,56112 55550 - SH2 domain 56112 - Protein kinase-like (PK-like) 56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,57581,57184 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,57184,57581 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0 | DIRECT |
50729,55550,56112 50729 - PH domain-like 55550 - SH2 domain 56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch domain | 0 | DIRECT |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.002129 | INHERITED FROM: Atelectasis || Abnormal respiratory motile cilium physiology || Tachypnea || Chronic bronchitis || Abnormal mucociliary clearance || Bronchiectasis || Cough || Abnormal bronchus morphology |
48092,47655,49417 48092 - Transcription factor STAT-4 N-domain 47655 - STAT 49417 - p53-like transcription factors | 0.0115 | INHERITED FROM: Abnormal lung morphology |
47655,49417,55550 47655 - STAT 49417 - p53-like transcription factors 55550 - SH2 domain | 0.0115 | INHERITED FROM: Abnormal lung morphology |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.0253 | INHERITED FROM: Abnormal tracheobronchial morphology || Abnormal trachea morphology |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.0253 | INHERITED FROM: Abnormal tracheobronchial morphology || Abnormal trachea morphology |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.03787 | INHERITED FROM: Abnormality of the pulmonary vasculature || Abnormality of the pulmonary artery |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.04806 | INHERITED FROM: Abnormality of the pulmonary vasculature || Elevated pulmonary artery pressure |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.05391 | INHERITED FROM: Abnormality of the pulmonary vasculature || Abnormal pulmonary artery morphology || Abnormality of the pulmonary artery |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.2932 | INHERITED FROM: Laryngeal stenosis || Laryngeal stridor |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.3382 | INHERITED FROM: Upper airway obstruction |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
48726,49265,48726 48726 - Immunoglobulin 49265 - Fibronectin type III 48726 - Immunoglobulin | 0 | Direct |
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
55550,56112,56112 55550 - SH2 domain 56112 - Protein kinase-like (PK-like) 56112 - Protein kinase-like (PK-like) | 0 | Direct |
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain | 0 | Direct |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0 | Direct |
57184,57581,57184 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | Direct |
57184,57184,57581 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0 | Direct |
50729,55550,56112 50729 - PH domain-like 55550 - SH2 domain 56112 - Protein kinase-like (PK-like) | 0 | Direct |
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch domain | 0 | Direct |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.002129 | Inherited |
48092,47655,49417 48092 - Transcription factor STAT-4 N-domain 47655 - STAT 49417 - p53-like transcription factors | 0.0115 | Inherited |
47655,49417,55550 47655 - STAT 49417 - p53-like transcription factors 55550 - SH2 domain | 0.0115 | Inherited |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.0253 | Inherited |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.0253 | Inherited |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.03787 | Inherited |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.04806 | Inherited |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.05391 | Inherited |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.2932 | Inherited |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.3382 | Inherited |
LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm
Plot distribution on species Tree Of Life (sTOL) for Superfamily and/or Family domains annotated by this HP term
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Plot tree as:
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Download Newick format tree:
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( show help)
Trees by TreeVector
A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
Plot distribution on species Tree Of Life (sTOL) for single supra-domains annotated by this HP term
 |
Plot tree as:
| |
Download Newick format tree:
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Browsing in TREE OF LIFE:
|
( show help)
Trees by TreeVector
A presence/absence matrix is generated using protein domains and supradomains
for all genomes in SUPERFAMILY. The RAxML
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
on their own, and allows the trees to be displayed instantly.
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