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 DeCS Categories

C07 Stomatognathic Diseases .
C07.465 Mouth Diseases .
C07.465.910 Tongue Diseases .
C07.465.910.460 Macroglossia .
C10 Nervous System Diseases .
C10.292 Cranial Nerve Diseases .
C10.292.450 Glossopharyngeal Nerve Diseases .
C11 Eye Diseases .
C11.270 Eye Diseases, Hereditary .
C11.270.516 Leber Congenital Amaurosis .
C11.675 Orbital Diseases .
C11.675.349 Exophthalmos .
C11.768 Retinal Diseases .
C11.768.364 Leber Congenital Amaurosis .
C14 Cardiovascular Diseases .
C14.240 Cardiovascular Abnormalities .
C14.240.400 Heart Defects, Congenital .
C14.280 Heart Diseases .
C14.280.400 Heart Defects, Congenital .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.240 Cardiovascular Abnormalities .
C16.131.240.400 Heart Defects, Congenital .
C16.320 Genetic Diseases, Inborn .
C16.320.290 Eye Diseases, Hereditary .
D12 Amino Acids, Peptides, and Proteins .
D12.776 Proteins .
D12.776.602 Mutant Proteins .
D12.776.602.500 Mutant Chimeric Proteins .
D12.776.602.500.500 Oncogene Proteins, Fusion .
D12.776.624 Neoplasm Proteins .
D12.776.624.664 Oncogene Proteins .
D12.776.624.664.500 Oncogene Proteins, Fusion .
D27 Chemical Actions and Uses .
D27.888 Toxic Actions .
D27.888.569 Noxae .
D27.888.569.213 Cytotoxins .
E01 Diagnosis .
SP4 Environmental Health .
SP4.001 Health .
SP4.001.002 Health Services .
SP4.001.002.015 Quality of Health Care .
SP4.001.002.015.044 Diagnosis .
SP4.051 General Aspects .
SP4.051.512 Diagnosis .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Eye Diseases, Hereditary .
Hereditary Eye Diseases .
Disease, Hereditary Eye .
Diseases, Hereditary Eye .
Eye Disease, Hereditary .
Hereditary Eye Disease .
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. .
1.00
33897
 
Heart Defects, Congenital .
Abnormality, Heart .
Congenital Heart Defect .
Congenital Heart Defects .
Defects, Congenital Heart .
Heart Defect, Congenital .
Heart, Malformation Of .
Abnormalities, Heart .
Defect, Congenital Heart .
Heart Abnormality .
Heart Abnormalities .
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. .
0.45
180542826
 
Genetic Diseases, Inborn .
Genetic Diseases .
Genetic Disorders .
Hereditary Disease .
Inborn Genetic Diseases .
Single-Gene Defects .
Defect, Single-Gene .
Defects, Single-Gene .
Disease, Genetic .
Disease, Hereditary .
Disease, Inborn Genetic .
Diseases, Genetic .
Diseases, Hereditary .
Diseases, Inborn Genetic .
Disorder, Genetic .
Disorders, Genetic .
Genetic Disease .
Genetic Disease, Inborn .
Genetic Disorder .
Inborn Genetic Disease .
Single Gene Defects .
Single-Gene Defect .
Hereditary Diseases .
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. .
0.44
34612779
 
Diagnosis .
Antemortem Diagnosis .
Diagnoses and Examinations .
Examinations and Diagnoses .
Postmortem Diagnosis .
Antemortem Diagnoses .
Diagnoses .
Diagnoses, Antemortem .
Diagnoses, Postmortem .
Diagnosis, Antemortem .
Diagnosis, Postmortem .
Postmortem Diagnoses .
The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. .
0.42
19658257
 
Cytotoxins .
Cytolysins .
Cytotoxic Agents .
Substances that are toxic to cells; they may be involved in immunity or may be contained in venoms. These are distinguished from CYTOSTATIC AGENTS in degree of effect. Some of them are used as CYTOTOXIC ANTIBIOTICS. The mechanism of action of many of these are as ALKYLATING AGENTS or MITOSIS MODULATORS. .
0.42
1425767
 
Glossopharyngeal Nerve Diseases .
Cranial Nerve IX Disorders .
Glossopharyngeal Motor Neuropathy .
Glossopharyngeal Nerve Sensory Neuropathy .
Glossopharyngeal Nerve Taste Disorder .
Sensory Neuropathy, Glossopharyngeal Nerve .
Taste Disorder, Glossopharyngeal Nerve .
Glossopharyngeal Motor Neuropathies .
Glossopharyngeal Nerve Disease .
Glossopharyngeal Neuralgias .
Motor Neuropathies, Glossopharyngeal .
Motor Neuropathy, Glossopharyngeal .
Neuralgia, Glossopharyngeal .
Neuralgias, Glossopharyngeal .
Cranial Nerve IX Diseases .
Glossopharyngeal Neuralgia .
Ninth Cranial Nerve Diseases .
Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) .
0.40
13268
 
Leber Congenital Amaurosis .
Amaurosis, Leber Congenital .
Congenital Amaurosis of Retinal Origin .
Congenital Retinal Blindness .
Dysgenesis Neuroepithelialis Retinae .
Hereditary Epithelial Dysplasia of Retina .
Hereditary Retinal Aplasia .
Heredoretinopathia Congenitalis .
Leber Abiotrophy .
Leber Congenital Tapetoretinal Degeneration .
Leber's Amaurosis .
Abiotrophies, Leber .
Abiotrophy, Leber .
Amauroses, Leber Congenital .
Amauroses, Leber's .
Amaurosis, Leber's .
Blindness, Congenital Retinal .
Blindnesses, Congenital Retinal .
Congenital Amauroses, Leber .
Congenital Amaurosis, Leber .
Congenital Retinal Blindnesses .
Leber Abiotrophies .
Leber Amaurosis .
Leber Congenital Amauroses .
Leber's Amauroses .
Lebers Amaurosis .
Retinal Blindnesses, Congenital .
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells. .
0.39
1314
 
Exophthalmos .
Proptoses .
Proptosis .
Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye. .
0.39
1484687
 
Macroglossia .
Macroglossias .
The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) .
0.39
47639
 
Oncogene Proteins, Fusion .
Chimeric Oncogene Proteins .
Chimeric Proteins, Oncogene .
Fusion Proteins, Oncogene .
Oncogene Fusion Proteins .
Oncogene Proteins, Chimeric .
Fusion Oncogene Proteins .
Oncogene Chimeric Proteins .
Proteins, Chimeric Oncogene .
Proteins, Fusion Oncogene .
Proteins, Oncogene Chimeric .
Proteins, Oncogene Fusion .
env-onc Fusion Protein .
Fusion Proteins, env-onc .
The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin. .
0.39
147526