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Medical subject headings, scope notes, synonyms and classification identifiers.
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR…
A highly malignant, primitive form of carcinoma, probably of germinal cell or teratomatous derivation, usually arising in a gonad and rarely in other sites. It is rare in the female ovary, but in the male it accounts for 20% of all…
Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea.
A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment…
Intense itching of the external female genitals.
The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the URINARY TRACT and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant…
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity…
Abnormal passage communicating with the PANCREAS.
Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms.
Traumatic injuries to the MANDIBULAR NERVE and its branches. Note that marginal mandibular nerve injury is a type of FACIAL NERVE INJURIES. Injuries to LINGUAL NERVE branch of mandibular nerve is LINGUAL NERVE INJURIES.
A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present.…
A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (KERATITIS, DENDRITIC). (Dictionary of Visual Science,…
Abnormalities of the nose acquired after birth from injury or disease.
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity…
Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell…
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM,…
The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.
Presence or formation of GALLSTONES in the GALLBLADDER.
Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE…
Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the…
A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a…
General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
An accumulation of purulent material in the area between the PALATINE TONSIL and its capsule.
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