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Dysmorphy
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δάκτυλος, ''daktulos'' 'finger'. Classification Syndactyly can be simple or complex. * In simple syndactyly, adjacent fingers or toes are joined by soft tissue. * In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete. * In complete syndactyly, the skin is joined all the way to the tip of the involved digits. * In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits. Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, means the skin is jo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deep Learning
Deep learning (also known as deep structured learning) is part of a broader family of machine learning methods based on artificial neural networks with representation learning. Learning can be supervised, semi-supervised or unsupervised. Deep-learning architectures such as deep neural networks, deep belief networks, deep reinforcement learning, recurrent neural networks, convolutional neural networks and Transformers have been applied to fields including computer vision, speech recognition, natural language processing, machine translation, bioinformatics, drug design, medical image analysis, climate science, material inspection and board game programs, where they have produced results comparable to and in some cases surpassing human expert performance. Artificial neural networks (ANNs) were inspired by information processing and distributed communication nodes in biological systems. ANNs have various differences from biological brains. Specifically, artificial neu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, mercury, alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek (word stem ), meaning "sign sent by the gods, portent, marvel, monster", and ('' -ology''), used to designate a discourse, treaty, science, t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysplasia
Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs ( macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone. Dysplasias on a mainly macroscopic scale include hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney. In one of the modern histopathological senses of the term, dysplasia is sometimes differentiated from other categories of tissue change including hyperplasia, metaplasia, and neoplasia, and dysplasias are thus generally not cancerous. An exception is that the myelodysplasias include a range of benign, precancerous, and cancerous forms. Various other dysplasias tend to be precancerous. The word's meanings thus cover a spectrum of histopathological variations. Microscopic scale Epithelial dysplasia Epithelial dysplasia consists of an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deformity
A deformity, dysmorphism, or dysmorphic feature is a major abnormality of an organism that makes a part of the body appear or function differently than how it is supposed to. Causes Deformity can be caused by a variety of factors: * Arthritis and other rheumatoid disorders *Chronic application of external forces, e.g. artificial cranial deformation *Chronic paresis, paralysis or muscle imbalance, especially in children, e.g. due to poliomyelitis or cerebral palsy *Complications at birth *Damage to the fetus or uterus *Fractured bones left to heal without being properly set (malunion) *Genetic mutation *Growth or hormone disorders *Infection *Reconstructive surgery following a severe injury, e.g. burn injury Deformity can occur in all organisms: * Frogs can be mutated due to Ribeiroia (Trematoda) infection. * Plants can undergo irreversible cell deformation * Insects, such as honeybees, can be affected by deformed wing virus * Fish can be found with scoliosis due to envir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malformation
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Visual Inspection
Visual inspection is a common method of quality control, data acquisition, and data analysis. Visual Inspection, used in maintenance of facilities, mean inspection of equipment and structures using either or all of raw human senses such as vision, hearing, touch and smell and/or any non-specialized inspection equipment. Inspections requiring Ultrasonic, X-Ray equipment, Infra-red, etc. are not typically regarded as Visual Inspection as these Inspection methodologies require specialized equipment, training and certification. Quality control A study of the visual inspection of small integrated circuits found that the modal duration of eye fixations of trained inspectors was about 200 ms. The most accurate inspectors made the fewest eye fixations and were the fastest. When the same chip was judged more than once by an individual inspector the consistency of judgment was very high whereas the consistency between inspectors was somewhat less. Variation by a factor of six in inspecti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Knowledge Graph
The Google Knowledge Graph is a knowledge base from which Google serves relevant information in an infobox beside its search results. This allows the user to see the answer in a glance. The data is generated automatically from a variety of sources, covering places, people, businesses, and more. The information covered by Google's Knowledge Graph grew quickly after launch, tripling its size within seven months (covering 570 million entities and 18 billion facts). By mid-2016, Google reported that it held 70 billion facts and answered "roughly one-third" of the 100 billion monthly searches they handled. By May 2020, this had grown to 500 billion facts on 5 billion entities. There is no official documentation of how the Google Knowledge Graph is implemented. According to Google, its information is retrieved from many sources, including the ''CIA World Factbook'' and Wikipedia. It is used to answer direct spoken questions in Google Assistant and Google Home voice queries. It h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ClinVar
ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, UniProt UniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects. It contains a large amount of information about the biological function of proteins derived from ..., expert panels and practical guidelines. References Biological databases {{biodatabase-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Phenotype Ontology
The Human Phenotype Ontology (HPO) is a formal ontology of human phenotypes. Developed in collaboration with members of the Open Biomedical Ontologies Foundry, HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. Data from Online Mendelian Inheritance in Man and medical literature were used to generate the terms currently in the HPO. The ontology contains over 50,000 annotations between phenotypes and hereditary disease. Motivation The Human Phenotype Ontology (HPO) was created to serve as a standardized vocabulary of phenotypic abnormalities that have been seen in human disease. Applications for the data in the ontology include clinical diagnostics, mapping between phenotypes of model organisms, and as a standard vocabulary for clinical databases. Clinical annotations within the HPO are sought from the medical and genetics community to improve the ontology. See also *Disease Ontology The Disease Ontology (DO) is a formal ontology of hu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
