|
|
CTD Diseases (CD): Bone Diseases, Developmental
(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: 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) |
| + + + 3: | Diseases [MESH:C] <25> |
| + + 2: | Musculoskeletal Diseases [MESH:D009140] <13> | (29|36) |
(36|21|18) |
| + 1: | Bone Diseases [MESH:D001847] <34> | (10|9) |
(12|6|4) |
| 0: | Bone Diseases, Developmental [MESH:D001848] <89> | (2|4) |
(2|4|3) |
| - 1: | Osteochondrodysplasias [MESH:D010009] <225> | (1|1) |
(1|0|0) |
| - 1: | Dwarfism [MESH:D004392] <94> | (0|1) |
(0|0|0) |
| - 1: | Dysostoses [MESH:D004413] <23> | (1|2) |
(1|1|1) |
| - 1: | Marfan Syndrome [MESH:D008382] <10> | (0|0) |
(0|0|0) |
| - 1: | Acro-Osteolysis [MESH:D030981] <6> | (0|0) |
(0|0|0) |
| - 1: | Funnel Chest [MESH:D005660] <4> | (0|0) |
(0|0|0) |
| - 1: | Basal Cell Nevus Syndrome [MESH:D001478] <1> | (0|0) |
(0|0|0) |
| - 1: | Gigantism [MESH:D005877] <1> | (0|0) |
(0|0|0) |
| - 1: | Larsen syndrome, recessive type [MESH:C537874] <1> | (0|0) |
(0|0|0) |
| - 1: | Osteolysis, Essential [MESH:D010015] <1> | (0|0) |
(0|0|0) |
| - 1: | Platybasia [MESH:D010985] <1> | (0|0) |
(0|0|0) |
| - 1: | Proteus Syndrome [MESH:D016715] <1> | (0|0) |
(0|0|0) |
| - 1: | AU-KLINE SYNDROME [OMIM:616580] | (0|0) |
(0|0|0) |
| - 1: | Acrocapitofemoral Dysplasia [MESH:C564334] | (0|0) |
(0|0|0) |
| - 1: | Acromesomelic dysplasia, Maroteaux type [MESH:C535661] | (0|0) |
(0|0|0) |
| - 1: | Acromicric dysplasia [MESH:C535662] | (0|0) |
(0|0|0) |
| - 1: | Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital [MESH:C563429] | (0|0) |
(0|0|0) |
| - 1: | Angel shaped phalangoepiphyseal dysplasia [MESH:C536361] | (0|0) |
(0|0|0) |
| - 1: | BENT BONE DYSPLASIA SYNDROME [OMIM:614592] | (0|0) |
(0|0|0) |
| - 1: | Baby Rattle Pelvis Dysplasia [MESH:C565282] | (0|0) |
(0|0|0) |
| - 1: | Battaglia Neri syndrome [MESH:C537662] | (0|0) |
(0|0|0) |
| - 1: | Bazopoulou Kyrkanidou syndrome [MESH:C537664] | (0|0) |
(0|0|0) |
| - 1: | Bellini Chiumello Rimoldi syndrome [MESH:C535652] | (0|0) |
(0|0|0) |
| - 1: | Blount disease [MESH:C536237] | (0|0) |
(0|0|0) |
| - 1: | Bone Dysplasia, Lethal, Holmgren Type [MESH:C565896] | (0|0) |
(0|0|0) |
| - 1: | Brachioskeletogenital syndrome [MESH:C537084] | (0|0) |
(0|0|0) |
| - 1: | Brachymesomelia renal syndrome [MESH:C537096] | (0|0) |
(0|0|0) |
| - 1: | Brittle Bone Disorder [MESH:C565842] | (0|0) |
(0|0|0) |
| - 1: | CATSHL syndrome [MESH:C537975] | (0|0) |
(0|0|0) |
| - 1: | CHOPS SYNDROME [OMIM:616368] | (0|0) |
(0|0|0) |
| - 1: | Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia [MESH:C537974] | (0|0) |
(0|0|0) |
| - 1: | Cervical Vertebral Dysplasia [MESH:C566140] | (0|0) |
(0|0|0) |
| - 1: | Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta [MESH:C565734] | (0|0) |
(0|0|0) |
| - 1: | Craniolenticulosutural Dysplasia [MESH:C564332] | (0|0) |
(0|0|0) |
| - 1: | Deafness conductive ptosis skeletal anomalies [MESH:C535993] | (0|0) |
(0|0|0) |
| - 1: | Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull [MESH:C563380] | (0|0) |
(0|0|0) |
| - 1: | Diaphyseal medullary stenosis with malignant fibrous histiocytoma [MESH:C536169] | (0|0) |
(0|0|0) |
| - 1: | Doughnut Lesions of Skull, Familial [MESH:C565089] | (0|0) |
(0|0|0) |
| - 1: | Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas [MESH:C565076] | (0|0) |
(0|0|0) |
| - 1: | Dysplasia epiphysealis hemimelica [MESH:C537997] | (0|0) |
(0|0|0) |
| - 1: | EVEN-PLUS SYNDROME [OMIM:616854] | (0|0) |
(0|0|0) |
| - 1: | Fountain syndrome [MESH:C537270] | (0|0) |
(0|0|0) |
| - 1: | Fryns Hofkens Fabry syndrome [MESH:C538069] | (0|0) |
(0|0|0) |
| - 1: | Gracile bone dysplasia [MESH:C537291] | (0|0) |
(0|0|0) |
| - 1: | Gurrieri Sammito Bellussi syndrome [MESH:C537625] | (0|0) |
(0|0|0) |
| - 1: | Hall Riggs mental retardation syndrome [MESH:C535623] | (0|0) |
(0|0|0) |
| - 1: | Ischiopatellar dysplasia [MESH:C535540] | (0|0) |
(0|0|0) |
| - 1: | KBG syndrome [MESH:C537015] | (0|0) |
(0|0|0) |
| - 1: | Kantaputra Gorlin syndrome [MESH:C535547] | (0|0) |
(0|0|0) |
| - 1: | Kozlowski Rafinski Klicharska syndrome [MESH:C537509] | (0|0) |
(0|0|0) |
| - 1: | Kozlowski Warren Fisher syndrome [MESH:C537614] | (0|0) |
(0|0|0) |
| - 1: | Kyphomelic dysplasia [MESH:C538128] | (0|0) |
(0|0|0) |
| - 1: | Leg Length Inequality [MESH:D007870] | (0|0) |
(0|0|0) |
| - 1: | Lenz Majewski hyperostotic dwarfism [MESH:C537115] | (0|0) |
(0|0|0) |
| - 1: | Lissencephaly Type III and Bone Dysplasia [MESH:C563383] | (0|0) |
(0|0|0) |
| - 1: | MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME [OMIM:615381] | (0|0) |
(0|0|0) |
| - 1: | Macroepiphyseal dysplasia, McAlister Coe type [MESH:C537721] | (0|0) |
(0|0|0) |
| - 1: | Marshall-Smith syndrome [MESH:C536026] | (0|0) |
(0|0|0) |
| - 1: | Membranous Cranial Ossification, Delayed [MESH:C563592] | (0|0) |
(0|0|0) |
| - 1: | Mesomelic Dysplasia, Camera Type [MESH:C567503] | (0|0) |
(0|0|0) |
| - 1: | Mesomelic Limb Shortening and Bowing [MESH:C565404] | (0|0) |
(0|0|0) |
| - 1: | Mononen Karnes Senac syndrome [MESH:C535914] | (0|0) |
(0|0|0) |
| - 1: | Osteofibrous Dysplasia [MESH:C563276] | (0|0) |
(0|0|0) |
| - 1: | Osteosclerosis with ichthyosis and premature ovarian failure [MESH:C536064] | (0|0) |
(0|0|0) |
| - 1: | Patterson pseudoleprechaunism syndrome [MESH:C536310] | (0|0) |
(0|0|0) |
| - 1: | Pectus Carinatum [MESH:D066166] | (0|0) |
(0|0|0) |
| - 1: | Pointer syndrome [MESH:C536323] | (0|0) |
(0|0|0) |
| - 1: | Prenatal Bowing [MESH:C564873] | (0|0) |
(0|0|0) |
| - 1: | Radius absent anogenital anomalies [MESH:C535281] | (0|0) |
(0|0|0) |
| - 1: | Rhizomelic dysplasia Patterson Lowry type [MESH:C537609] | (0|0) |
(0|0|0) |
| - 1: | Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa [MESH:C537610] | (0|0) |
(0|0|0) |
| - 1: | Rhizomelic syndrome [MESH:C537611] | (0|0) |
(0|0|0) |
| - 1: | Roifman-Chitayat Syndrome [MESH:C567641] | (0|0) |
(0|0|0) |
| - 1: | Santos Syndrome [MESH:C567819] | (0|0) |
(0|0|0) |
| - 1: | Schwartz-Lelek syndrome [MESH:C537519] | (0|0) |
(0|0|0) |
| - 1: | Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities [MESH:C566544] | (0|0) |
(0|0|0) |
| - 1: | Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] | (0|0) |
(0|0|0) |
| - 1: | Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal [MESH:C566514] | (0|0) |
(0|0|0) |
| - 1: | Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification [MESH:C566687] | (0|0) |
(0|0|0) |
| - 1: | Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa [MESH:C563806] | (0|0) |
(0|0|0) |
| - 1: | Spondyloepimetaphyseal Dysplasia, Aggrecan Type [MESH:C567558] | (0|0) |
(0|0|0) |
| - 1: | Spranger Schinzel Myers syndrome [MESH:C535801] | (0|0) |
(0|0|0) |
| - 1: | Stoll Levy Francfort syndrome [MESH:C537498] | (0|0) |
(0|0|0) |
| - 1: | Trichoodontoonychial Dysplasia [MESH:C564760] | (0|0) |
(0|0|0) |
| - 1: | Ulna hypoplasia with mental retardation [MESH:C536934] | (0|0) |
(0|0|0) |
| - 1: | VERHEIJ SYNDROME [OMIM:615583] | (0|0) |
(0|0|0) |
| - 1: | Vertebral body fusion overgrowth [MESH:C536543] | (0|0) |
(0|0|0) |
| - 1: | Weismann Netter syndrome [MESH:C537082] | (0|0) |
(0|0|0) |
| - 1: | Wiedemann Oldigs Oppermann syndrome [MESH:C536705] | (0|0) |
(0|0|0) |
Plot distribution on species Tree Of Life (sTOL) for Superfamily and/or Family domains annotated by this CD term
 |
Plot tree as:
| |
Download Newick format tree:
|
( 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
|
Plot tree as:
| |
Download Newick format tree:
| |
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.
|
|
> BO Hierarchy > Bone Diseases, Developmental
