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CTD Diseases (CD): Endocrine System Diseases 
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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: CD Hierarchy (CTD diseases from Comparative Toxicogenomics Database)
| Shortest distance to current term (+ for parents, - for children) |
CD term [CD ID] <#Children> |
#Domains (Superfamily|Family) |
#Supra-domain (Single|Duplex|Triple) |
| + 1: | Diseases [MESH:C] <25> |
| 0: | Endocrine System Diseases [MESH:D004700] <18> | (19|28) |
(22|15|10) |
| - 1: | Dwarfism [MESH:D004392] <94> | (0|1) |
(0|0|0) |
| - 1: | Diabetes Mellitus [MESH:D003920] <44> | (3|7) |
(5|4|2) |
| - 1: | Thyroid Diseases [MESH:D013959] <13> | (0|1) |
(0|1|0) |
| - 1: | Pituitary Diseases [MESH:D010900] <10> | (1|1) |
(1|0|0) |
| - 1: | Endocrine Gland Neoplasms [MESH:D004701] <9> | (3|6) |
(4|7|5) |
| - 1: | Adrenal Gland Diseases [MESH:D000307] <8> | (4|3) |
(4|0|0) |
| - 1: | Gonadal Disorders [MESH:D006058] <6> | (5|4) |
(5|1|0) |
| - 1: | Bone Diseases, Endocrine [MESH:D001849] <5> | (1|1) |
(1|0|0) |
| - 1: | Parathyroid Diseases [MESH:D010279] <3> | (0|0) |
(0|0|0) |
| - 1: | Polyendocrinopathies, Autoimmune [MESH:D016884] <3> | (0|0) |
(0|0|0) |
| - 1: | ACTH Deficiency, Isolated [MESH:C562707] | (0|0) |
(0|0|0) |
| - 1: | Alopecia, Neurologic Defects, and Endocrinopathy Syndrome [MESH:C567425] | (0|0) |
(0|0|0) |
| - 1: | Endocrine-Cerebroosteodysplasia [MESH:C567210] | (0|0) |
(0|0|0) |
| - 1: | Macrosomia Adiposa Congenita [MESH:C565425] | (0|0) |
(0|0|0) |
| - 1: | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET [OMIM:616263] | (0|0) |
(0|0|0) |
| - 1: | Proprotein Convertase 1 3 Deficiency [MESH:C563423] | (0|0) |
(0|0|0) |
| - 1: | Retinohepatoendocrinologic Syndrome [MESH:C564839] | (0|0) |
(0|0|0) |
| - 1: | Tuberculosis, Endocrine [MESH:D014383] | (0|0) |
(0|0|0) |
Jump to [ Top · Hierarchy ]
Family( show details)
Highlighted in gray are those with FDR_all>0.001
| SCOP term |
FDR (all) |
Annotation (direct or inherited) |
| Gonadodropin/Follitropin | 0 | DIRECT |
| Thrombospondin C-terminal domain | 0 | DIRECT |
| IF2B-like | 0 | DIRECT |
| TSP type-3 repeat | 0 | DIRECT |
| Cytochrome p450 reductase N-terminal domain-like | 0 | DIRECT |
| Nitric oxide (NO) synthase oxygenase domain | 0 | DIRECT |
| Interferons/interleukin-10 (IL-10) | 0.00002078 | DIRECT |
| Nuclear receptor ligand-binding domain | 0.0002294 | DIRECT |
| Long-chain cytokines | 0.0002607 | DIRECT |
| Myeloperoxidase-like | 0.000605 | DIRECT |
| NADPH-cytochrome p450 reductase FAD-binding domain-like | 0.0006668 | DIRECT |
| NADPH-cytochrome p450 reductase-like | 0.0006668 | DIRECT |
| Notch domain | 0.0006668 | DIRECT |
| Aldo-keto reductases (NADP) | 0.01109 | INHERITED FROM: Ovarian Cysts || Polycystic Ovary Syndrome || Disorders of Sex Development |
| Clc chloride channel | 0.01189 | INHERITED FROM: Adrenal Gland Diseases || Adrenocortical Hyperfunction || Hyperaldosteronism |
| EGF-type module | 0.01821 | INHERITED FROM: Carcinoma, Pancreatic Ductal |
| Cyclin | 0.01926 | INHERITED FROM: Ovarian Diseases |
| Rel/Dorsal transcription factors, DNA-binding domain | 0.02103 | INHERITED FROM: Diabetes Mellitus || Diabetes Mellitus, Type 2 |
| Hairy Orange domain | 0.02103 | INHERITED FROM: Carcinoma, Pancreatic Ductal || Pancreatic Neoplasms |
| CBS-domain pair | 0.03334 | INHERITED FROM: Adrenocortical Hyperfunction || Hyperaldosteronism |
| Bcl-2 inhibitors of programmed cell death | 0.03546 | INHERITED FROM: Diabetes Mellitus, Experimental |
| Growth factor receptor domain | 0.03701 | INHERITED FROM: Carcinoma, Pancreatic Ductal |
| Phosphotyrosine-binding domain (PTB) | 0.05363 | INHERITED FROM: Diabetes Mellitus, Type 2 |
| Fibronectin type II module | 0.05487 | INHERITED FROM: Diabetes Complications |
| NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain | 0.05487 | INHERITED FROM: Diabetes Mellitus, Type 2 |
| Cytochrome P450 | 0.1489 | INHERITED FROM: Adrenal Gland Diseases || Adrenal Hyperplasia, Congenital || Adrenogenital Syndrome |
| Homeodomain | 0.1547 | INHERITED FROM: Bone Diseases, Endocrine || Pituitary Diseases |
| Classic zinc finger, C2H2 | 0.1914 | INHERITED FROM: Thyroid Cancer, Papillary |
LINKTO: Domain2BO Download and Domain2BO Algorithm
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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) |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
90193,90193
90193 - Notch domain
90193 - Notch domain | 0 | DIRECT |
103647,49899
103647 - TSP type-3 repeat
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
103647,103647
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat | 0 | DIRECT |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.0002262 | DIRECT |
57716,48508
57716 - Glucocorticoid receptor-like (DNA-binding domain)
48508 - Nuclear receptor ligand-binding domain | 0.0002567 | DIRECT |
57889,57889
57889 - Cysteine-rich domain
57889 - Cysteine-rich domain | 0.0008891 | DIRECT |
49562,57889
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
57889 - Cysteine-rich domain | 0.002686 | INHERITED FROM: Diabetes Mellitus |
47954,47954
47954 - Cyclin-like
47954 - Cyclin-like | 0.004179 | INHERITED FROM: Ovarian Diseases |
57440,57440
57440 - Kringle-like
57440 - Kringle-like | 0.01731 | INHERITED FROM: Diabetic Neuropathies || Diabetes Mellitus || Diabetes Complications |
47459,158457
47459 - HLH, helix-loop-helix DNA-binding domain
158457 - Orange domain-like | 0.0185 | INHERITED FROM: Pancreatic Neoplasms || Carcinoma, Pancreatic Ductal |
49417,81296
49417 - p53-like transcription factors
81296 - E set domains | 0.0185 | INHERITED FROM: Diabetes Mellitus, Type 2 || Diabetes Mellitus |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.0366 | INHERITED FROM: Carcinoma, Pancreatic Ductal |
57667,57667
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.07817 | INHERITED FROM: Thyroid Cancer, Papillary |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2856 | INHERITED FROM: Carcinoma, Pancreatic Ductal |
| Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,90193
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
90193,90193
90193 - Notch domain
90193 - Notch domain | 0 | Direct |
103647,49899
103647 - TSP type-3 repeat
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
103647,103647
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat | 0 | Direct |
57196,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.0002262 | Direct |
57716,48508
57716 - Glucocorticoid receptor-like (DNA-binding domain)
48508 - Nuclear receptor ligand-binding domain | 0.0002567 | Direct |
57889,57889
57889 - Cysteine-rich domain
57889 - Cysteine-rich domain | 0.0008891 | Direct |
49562,57889
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
57889 - Cysteine-rich domain | 0.002686 | Inherited |
47954,47954
47954 - Cyclin-like
47954 - Cyclin-like | 0.004179 | Inherited |
57440,57440
57440 - Kringle-like
57440 - Kringle-like | 0.01731 | Inherited |
47459,158457
47459 - HLH, helix-loop-helix DNA-binding domain
158457 - Orange domain-like | 0.0185 | Inherited |
49417,81296
49417 - p53-like transcription factors
81296 - E set domains | 0.0185 | Inherited |
57184,57196
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.0366 | Inherited |
57667,57667
57667 - beta-beta-alpha zinc fingers
57667 - beta-beta-alpha zinc fingers | 0.07817 | Inherited |
57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2856 | 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) |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | DIRECT |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | DIRECT |
103647,103647,103647
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat | 0 | DIRECT |
103647,103647,49899
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat
49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.0003165 | DIRECT |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.00159 | INHERITED FROM: Pancreatic Neoplasms || Endocrine Gland Neoplasms || Carcinoma, Pancreatic Ductal |
49562,57889,57889
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
57889 - Cysteine-rich domain
57889 - Cysteine-rich domain | 0.002686 | INHERITED FROM: Diabetes Mellitus |
57440,57440,57440
57440 - Kringle-like
57440 - Kringle-like
57440 - Kringle-like | 0.0185 | INHERITED FROM: Diabetic Neuropathies || Diabetes Mellitus || Diabetes Complications |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.02651 | INHERITED FROM: Carcinoma, Pancreatic Ductal |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2313 | INHERITED FROM: Pancreatic Neoplasms || Carcinoma, Pancreatic Ductal |
| Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57196,90193
57196 - EGF/Laminin
57196 - EGF/Laminin
90193 - Notch domain | 0 | Direct |
57184,57184,57196
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0 | Direct |
103647,103647,103647
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat | 0 | Direct |
103647,103647,49899
103647 - TSP type-3 repeat
103647 - TSP type-3 repeat
49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
57196,57184,57184
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57184 - Growth factor receptor domain | 0.0003165 | Direct |
57196,57196,57184
57196 - EGF/Laminin
57196 - EGF/Laminin
57184 - Growth factor receptor domain | 0.00159 | Inherited |
49562,57889,57889
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
57889 - Cysteine-rich domain
57889 - Cysteine-rich domain | 0.002686 | Inherited |
57440,57440,57440
57440 - Kringle-like
57440 - Kringle-like
57440 - Kringle-like | 0.0185 | Inherited |
57196,57184,57196
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57196 - EGF/Laminin | 0.02651 | Inherited |
57196,57196,57196
57196 - EGF/Laminin
57196 - EGF/Laminin
57196 - EGF/Laminin | 0.2313 | 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 CD 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 CD term
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Plot tree as:
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Download Newick format tree:
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Browsing in TREE OF LIFE:
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( 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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> BO Hierarchy > Endocrine System Diseases
