ovarian mucinous neoplasm

A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.


fallopian tube papillary adenocarcinoma

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An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.


oncocytic neoplasm

A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)


squamous cell skin papilloma

A squamous papilloma that involves the zone of skin.


pituitary adenoma, growth hormone-secreting, 2

Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.


ovarian clear cell malignant adenofibroma

A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.


vaginal carcinoma

A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.


ureter adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the ureter


central nervous system hemangioma

A hemangioma arising from the brain and spinal cord.


skin pilomatrix carcinoma

A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.


breast hemangioma

A capillary or cavernous hemangioma arising from the breast.


vulvar seborrheic keratosis

A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.


nut midline carcinoma

A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.


cervical mucinous adenocarcinoma

A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.


Littre gland carcinoma

A carcinoma involving a male urethral gland.


adrenal cortex carcinoma

A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.


Foix-Alajouanine syndrome

Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.


pleomorphic breast carcinoma

A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.


skin lymphangiosarcoma

A malignant vascular neoplasm of the skin arising from the lymphatic vessels.


transitional cell neoplasm

A benign or malignant, primary or metastatic neoplasm affecting the transitional cells.


recurrent respiratory papillomatosis

Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.


papillary cystadenocarcinoma

A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.


cerebrofacial arteriovenous metameric syndrome type 1


prostatic acinar adenocarcinoma

An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.


fallopian tube endometrioid adenocarcinoma

An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.


urinary bladder inverted papilloma

A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.


urinary tract non-invasive transitional cell neoplasm

A non-invasive neoplasm affecting the urothelium.


lipid-rich carcinoma

A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.


adenosquamous carcinoma

A carcinoma composed of malignant glandular cells and malignant squamous cells.


basaloid carcinoma

A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.


thymic sarcomatoid carcinoma

A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.


thymoma type AB

A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.


solid papillary breast carcinoma

A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.


multiple endocrine neoplasia type 2

Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).


multilocular clear cell renal cell carcinoma

A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.


Warthin tumor

An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.


mucoepidermoid breast carcinoma

A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.


vulvar angiokeratoma

An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.


minor vestibular glands adenoma

A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.


lip and oral cavity carcinoma

A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.


breast apocrine carcinoma

An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.


intraductal breast papilloma

A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.


cystadenocarcinoma

A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.


familial ovarian carcinoma

Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.


hormone-resistant prostate carcinoma

Prostate carcinoma that does not respond to hormone therapy.


cerebral hemangioma

A hemangioma arising from the cerebral hemisphere.


classic variant of chromophobe renal cell carcinoma

A variant of chromophobe renal cell carcinoma. It is characterized by the presence of large pale cells with thickened cell membranes.


sebaceous adenoma

A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.


medullary breast carcinoma

An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.


cervical adenosquamous carcinoma, glassy cell variant

A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.


bladder transitional cell carcinoma

The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.


ovarian carcinosarcoma

A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.


breast ductal adenocarcinoma

A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.


human papillomavirus-related penile squamous cell carcinoma

A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.


spindle cell variant squamous cell breast carcinoma

A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.


adamantinoid basal cell epithelioma

A rare but aggressive type of basal skin carcinoma. It is characterized by the presence of a meshwork of stellate tumor cells. It occurs most commonly in the nose and ears.


endometrioid adenocarcinoma

An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.


adamantinoma

A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.


nasal cavity adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the nasal cavity


papillary adenoma

An adenoma characterized by the presence of papillary epithelial patterns.


nipple duct carcinoma

A carcinoma that develops in the ducts of the nipple.


frontal sinus squamous cell carcinoma

A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.


hidradenocarcinoma

A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.


bladder urachal squamous cell carcinoma

A rare variant of bladder urachal carcinoma with squamous cell features.


cervical squamous cell carcinoma

A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.


growth hormone secreting pituitary adenoma 1


fallopian tube carcinoma

A carcinoma that arises from epithelial cells of the fallopian tube.


papillary carcinoma of the cervix uteri

A papillary carcinoma that involves the uterine cervix.


rete ovarii adenoma

An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.


thyroid gland papillary and follicular carcinoma

A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)


adenoma of nipple

A adenoma that involves the nipple.


middle ear adenoma

A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.


inflammatory breast carcinoma

An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.


ovarian endometrioid adenocarcinoma with squamous differentiation

An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.


hemangioma of subcutaneous tissue

A hemangioma arising from the subcutaneous soft tissues.


external ear basal cell carcinoma

A basal cell carcinoma that arises from the skin of the external ear.


extraovarian Brenner tumor of the vagina

A Brenner tumor that involves the vagina.


ovarian cystadenoma

A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.


atypical breast papilloma

An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.


vulvar non-keratinizing squamous cell carcinoma

A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.


granular cell carcinoma

An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.


cervical endometrioid adenocarcinoma

A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.


skin adenosquamous carcinoma

An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.


paranasal sinus Schneiderian papilloma

A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.


urethra inverted papilloma

A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.


ureter small cell carcinoma

A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.


triple-positive breast carcinoma

A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).


multiple endocrine neoplasia type 2B

Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.


angiokeratoma of Fordyce

An angiokeratoma that is located on the scrotum or vulva.


venous hemangioma

A rare slow growing benign tumor of aberrant and ectatic venous connections.


nipple carcinoma

A carcinoma that arises from epithelial cells of the nipple


littoral cell angioma of the spleen

Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.


syringofibroadenoma

A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.


carcinoma of urethra

A carcinoma that involves the urethra.


ovarian seromucinous tumor

A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.


mammary Paget disease

A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.


bladder tubulo-cystic clear cell adenocarcinoma

A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.


type 2 papillary adenoma of the kidney

A renal papillary adenoma which is characterized by eosinophilic cells.


tubular adenocarcinoma

An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.


tracheal adenoid cystic carcinoma

An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.


urothelial dysplasia

A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.


sebaceous adenocarcinoma

An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.


acinic cell breast carcinoma

A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.


lobular breast carcinoma in situ

A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.


adrenal medulla carcinoma

A carcinoma that arises from epithelial cells of the adrenal medulla


external ear carcinoma

A carcinoma that arises from epithelial cells of the external ear


urothelial neoplasm

A neoplasm involving a urothelium.


ovarian mucinous adenocarcinofibroma

A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.


uterine ligament mucinous adenocarcinoma

A rare mucinous adenocarcinoma that arises from the uterine ligament.


rete testis adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the rete testis


carcinoma of the vocal tract

A carcinoma that involves the laryngeal vocal fold.


acinar prostate adenocarcinoma, foamy gland variant

A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.


tubular adenoma

A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.


glycogen-rich carcinoma

A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.


bartholin gland squamous cell carcinoma

A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.


frontal sinus cancer

A malignant neoplasm involving the frontal sinus.


invasive tubular breast carcinoma

An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.


bladder clear cell adenocarcinoma

A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.


non-functioning adrenal cortex adenoma

An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.


fallopian tube mucinous adenocarcinoma

An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.


ethmoid sinus inverted papilloma

A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.


bladder adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the urinary bladder


metanephric adenoma

A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.


urethra clear cell adenocarcinoma

A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.


cervical villoglandular adenocarcinoma

A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.


hidradenoma

A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.


female breast axillary tail cancer

A cancer that involves the UBERON:0035289.


Paget disease of the nipple

Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.


thyroid gland oncocytic adenoma

A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.


signet ring cell breast carcinoma

An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.


endometrial serous adenocarcinoma

A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.


bladder colonic type adenocarcinoma

A rare adenocarcinoma that arises in the bladder. It is characterized by intestinal type glands and resembles colonic adenocarcinoma.


larynx squamous papilloma

A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.


ovarian serous cystadenocarcinoma

A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.


ovarian papillary cystadenoma

A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.


choroid plexus carcinoma

A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)


prostate small cell carcinoma

A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.


intestinal variant cervical mucinous adenocarcinoma

A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.


malignant adrenal gland pheochromocytoma

A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.


nasal cavity and paranasal sinus carcinoma

A carcinoma arising from the nasal cavity or paranasal sinuses.


squamous papillomatosis

A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.


ovarian cystadenocarcinoma

An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.


malignant spiradenoma

A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.


angiokeratoma of scrotum

An angiokeratoma that is located on the scrotum.


sphenoid sinus Schneiderian papilloma

A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.


lipid-rich breast carcinoma

An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.


capillary hemangioma

A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.


vulva basal cell carcinoma

A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.


laryngeal papillomatosis

Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.


childhood bladder carcinoma

A rare carcinoma of the bladder that occurs during childhood.


sporadic breast cancer

A carcinoma that arises from the breast and is not caused by inherited genetic mutations.


infantile hemangioma of rare localization


Brenner tumor

A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.


cervical adenosquamous carcinoma

An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.


breast tumor luminal A or B

Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.


micropapillary serous carcinoma

An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.


ovarian mucinous cystadenocarcinoma

An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.


parathyroid oncocytic adenoma

A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.


vaginal glandular neoplasm

A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.


cavernous hemangioma of retina

A cavernous hemangioma that involves the retina.


arteriovenous hemangioma/malformation

A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.


primary intraosseous venous malformation

Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.


vulva verrucous carcinoma

A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.


bladder sarcomatoid transitional cell carcinoma

A sarcomatoid transitional cell carcinoma that is located in the bladder.


urethral verrucous carcinoma

A verrucous carcinoma that involves the urethra.


invasive malignant thymoma

A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.


penile carcinoma

A carcinoma that arises from epithelial cells of the penis


penis mixed squamous cell carcinoma

A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).


craniopharyngioma

A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)


acinar prostate adenocarcinoma, signet ring variant

A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.


skin clear cell basal cell carcinoma

A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.


ovarian squamous cell neoplasm

A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.


malignant epithelial tumor of ovary

An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.


thymus gland adenocarcinoma

A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.


large cell acanthoma

A benign, well-circumscribed squamous lesion characterized by the presence of enlarged keratinocytes with nuclei twice the normal size. (WHO 2018)


collecting duct carcinoma

A carcinoma that arises from epithelial cells of the collecting duct of renal tubule


lymphedema-posterior choanal atresia syndrome


mixed epithelial/mesenchymal metaplastic breast carcinoma

An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.


Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.


secretory uterine corpus endometrioid adenocarcinoma

An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.


basal-like breast carcinoma

A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.


morpheaform basal cell carcinoma

A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.


cervical small cell carcinoma

A small cell carcinoma arising from the cervix.


ureter squamous cell carcinoma

A rare squamous cell carcinoma that arises from the ureter.


invasive ductal breast carcinoma

The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.


papillary epithelial neoplasm

A benign, intermediate, or malignant neoplasm characterized by the presence of papillae lined by epithelial cells.


maxillary sinus inverted papilloma

A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.


papillary carcinoma of the corpus uteri

A papillary carcinoma that involves the body of uterus.


ethmoid sinus adenoid cystic carcinoma

An adenoid cystic carcinoma that affects the ethmoid sinus.


clear cell adenocarcinoma

A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.


adrenal carcinoma

A carcinoma involving a adrenal gland.


cervical adenoid cystic carcinoma

A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.


childhood choroid plexus carcinoma

A choroid plexus carcinoma that occurs during childhood.


hormone-resistant breast carcinoma

Breast carcinoma that does not respond to hormone therapy.


mixed cell type adenoma of parathyroid

A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).


benign adrenal gland pheochromocytoma

A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.


chromophobe adenoma

An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.


verrucous papilloma

A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.


breast apocrine adenoma

A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.


grade III prostatic intraepithelial neoplasia

High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.


sarcomatoid squamous cell carcinoma

A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.


dermal unilateral segmental cavernous angioma


thymic carcinoma

Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.


undifferentiated carcinoma of the corpus uteri

Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.


Bartholin gland small cell carcinoma

A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.


basal cell neoplasm

A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.


ovarian epithelial tumor

A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.


malignant ovarian Brenner tumor

A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.


regional ureteric cancer

Carcinoma of the ureter without spread to any other region.


cerebrofacial arteriovenous metameric syndrome

A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.


cervical verrucous carcinoma

A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.


epidermolytic acanthoma

A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.


intracranial hemangioma

A hemangioma arising from the brain and meninges.


pregnancy adenoma

A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.


papillary urothelial neoplasm

A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003


nasal vestibule squamous papilloma

A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.


skin appendage carcinoma

A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.


vestibular micropapillomatosis

A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.


vestibular papilloma

A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.


diffuse type adenocarcinoma

An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.


sweat gland carcinoma

A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.


cervical mucinous adenocarcinoma, minimal deviation variant

A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.


cutaneous adenocystic carcinoma

A adenoid cystic carcinoma that involves the skin of body.


nasopharyngeal type undifferentiated carcinoma

A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.


renal cell carcinoma associated with neuroblastoma

Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.


clear cell acanthoma

An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.


renal pelvis papillary urothelial carcinoma

A papillary transitional cell carcinoma that arises from the renal pelvis.


fallopian tube adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the fallopian tube


signet ring cell variant cervical mucinous adenocarcinoma

A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.


endometrial mixed adenocarcinoma

An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.


hobnail hemangioma

A hemangioma characterized by the presence of hobnail endothelial cells.


female breast upper-outer quadrant cancer


renal pelvis/ureter urothelial carcinoma

A transitional cell carcinoma that arises from the renal pelvis and ureter.


bladder papillary clear cell adenocarcinoma

A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.


paranasal sinus mucoepidermoid carcinoma

A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.


early invasive cervical adenocarcinoma

A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.


ductal breast carcinoma in situ and lobular carcinoma in situ

The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.


keratinizing squamous cell carcinoma

Squamous cell carcinomas with morphologically prominent production of keratin.


metastatic carcinoma in the adrenal medulla

A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.


adenoid cystic carcinoma

A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.


Wolffian adnexal tumor

A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.


urethral villous adenoma

An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.


eccrine porocarcinoma

A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.


malignant type A thymoma

A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.


splenic hemangioma

A hemangioma arising from the spleen.


Gorham-Stout disease

Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.


atypical lobular breast hyperplasia

Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.


middle ear carcinoma

A carcinoma that arises from epithelial cells of the middle ear


angiokeratoma

A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).


vulvar glandular neoplasm

A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.


childhood adrenal gland pheochromocytoma

A rare pheochromocytoma of the adrenal gland that occurs during childhood.


paranasal sinus carcinoma

A malignant epithelial neoplasm arising in the paranasal sinus.


infiltrating urothelial carcinoma

A invasive carcinoma that involves the urothelium.


uterine ligament serous adenocarcinoma

A rare serous adenocarcinoma that arises from the uterine ligament.


middle ear squamous cell carcinoma

A rare squamous cell carcinoma that arises from the middle ear.


cystic renal cell carcinoma

Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.


breast adenomyoepithelioma

A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.


hemangioblastoma

Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.


mucinous tubular and spindle renal cell carcinoma

A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.


papillary carcinoma of the penis

A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.


seminal vesicle cystadenoma

A rare benign cystadenoma that arises from the seminal vesicle.


normal breast-like subtype of breast carcinoma

A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.


facial arteriovenous malformation

Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.


transitional cell papilloma

A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.


thymoma type A

A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.


encapsulated thymoma

A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.


inverted urothelial papilloma

An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.


uterine ligament adenocarcinoma

A rare adenocarcinoma that arises from the uterine ligament.


endometrial squamous cell carcinoma

A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.


adrenal cortex adenoma

A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)


glandular cell neoplasm

A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.


eosinophilic variant of chromophobe renal cell carcinoma

A variant of chromophobe renal cell carcinoma in which more than 80% of the malignant cells have granular, eosinophilic cytoplasm.


ocular sebaceous carcinoma

Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.


lip and oral cavity squamous cell carcinoma

A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.


ovarian clear cell cystadenocarcinoma

A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.


prostatic urethra urothelial carcinoma

An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.


Bartholin gland adenomyoma

A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.


thymoma type B3

Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.


skin carcinoma in situ

A in situ carcinoma that involves the zone of skin.


intracystic papillary adenoma

A papillary epithelial neoplasm arising in a cystically dilated breast duct.


uterine ligament endometrioid adenocarcinoma

A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.


cutaneous Paget disease

A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.


mucoepidermoid carcinoma

A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.


sebaceous breast carcinoma

A very rare breast adenocarcinoma with sebaceous differentiation.


ethmoid sinus squamous cell carcinoma

A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.


lymph node carcinoma

A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.


rapidly involuting congenital hemangioma

Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.


fallopian tube papilloma

A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.


vulvar inverted follicular keratosis

Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.


perturbation by symbiont of host actin cytoskeleton via actin crosslinking

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The process in which an organism effects a change that impairs the structure or function of the host actin cytoskeleton by actin crosslinking the host actin filaments. The host is defined as the larger of the organisms involved in a symbiotic interaction.


Vertebral clefting

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Schisis (cleft or cleavage) of vertebral bodies.


Coronal cleft vertebrae

Frontal schisis (cleft or cleavage) of vertebral bodies.


Anterior clefting of vertebral bodies

Anterior schisis (cleft or cleavage) of vertebral bodies.


Butterfly vertebrae

A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.


regulation of glucocorticoid catabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glucocorticoids.


positive regulation of glucocorticoid metabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.


positive regulation of glucocorticoid biosynthetic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.


positive regulation of cortisol biosynthetic process

Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process.


negative regulation of glucocorticoid catabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glucocorticoids.


positive regulation of glucocorticoid catabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glucocorticoids.


Unresectable Lung Small Cell Carcinoma

Small cell lung carcinoma that is not amenable to surgical resection.


Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


methanol catabolic process

The chemical reactions and pathways resulting in the breakdown of methanol, CH3-OH, a colorless, flammable, mobile, poisonous liquid, widely used as a solvent.


male courtship behavior, veined wing extension

The process during courtship where the male insect extends his wings. An example of this process is found in Drosophila melanogaster.


negative regulation of female receptivity, post-mating

Any process that stops, prevents or reduces the receptiveness of a female to male advances subsequent to mating.


male courtship behavior, proboscis-mediated licking

The process during courtship where the male fly licks the genitalia of a stationary female fly with his proboscis. An example of this is found in Drosophila melanogaster.


male courtship behavior, veined wing generated song production

The process during wing vibration where the male insect produces a species-specific acoustic signal called a love song.


male courtship behavior

The behavior of a male, for the purpose of attracting a sexual partner. An example of this process is found in Drosophila melanogaster.


vulval location

Location, by the male, of his partner's vulva when backing along the ventral side of the hermaphrodite during mating. The male stops at the vulva, coordinates his movements to the hermaphrodite's, and positions his tail precisely over the vulva so that he may insert his spicules and ejaculate.


male courtship behavior, tapping to detect pheromone

The process during courtship where the male insect taps the female with his frontal leg. An example of this is found in Drosophila melanogaster.


positive regulation of female receptivity, post-mating

Any process that increases the receptiveness of a female to male advances subsequent to mating.


turning behavior involved in mating

The sharp ventral turn performed by the male as he approaches either the hermaphrodite head or tail, whilst trying to locate his partner's vulva. Turning occurs via a sharp ventral coil of the male's tail.


male courtship behavior, orientation prior to leg tapping and wing vibration

The process during courtship, where the male orients towards a potential partner. An example of this is found in Drosophila melanogaster.


male courtship behavior, veined wing vibration

The process during courtship where the male insect vibrates his wings. An example of this is found in Drosophila melanogaster.


mating behavior, sex discrimination

The behavior of individuals for the purpose of discriminating between the sexes, for the purpose of finding a suitable mating partner.


regulation of female receptivity, post-mating

Any process that modulates the receptiveness of a female to male advances subsequent to mating.


response to hermaphrodite contact

The response by the male to a hermaphrodite after initial contact following mate finding. The male stops forward locomotion, presses the ventral side of his tail against his partner's body, and begins moving backward along the hermaphrodite. Male response behavior is initiated when sensory neurons located in the rays of his tail contact a potential mate.


circadian mating behavior

The fluctuation in mating behavior that occurs over an approximately 24 hour cycle.


spicule insertion

Insertion of the male copulatory spicules into the hermaphrodite. Spicule insertion behavior initiates when the male cloaca contacts the vulva. During most mating encounters, the spicule tips will prod the vulva continuously until they partially penetrate, which then causes the protractors to contract completely so that the spicules extend through the vulva.


46 XX gonadal dysgenesis

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.


Elevated serum 11-deoxycortisol

Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.


Primary hypercortisolism

Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.


Secondary hypercortisolism

Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.


granulocyte colony-stimulating factor binding

biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Binding to granulocyte colony-stimulating factor, G-CSF.


Pseudoepiphysis of the proximal phalanx of the 4th toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe.


prostate bud

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A region of the fetal urogenital sinus epithelium destined to become the prostate[GO].


urogenital sinus epithelium

The fetal urogenital sinus (from which the prostate derives) is a simple cylinder of stratified basal epithelium, surrounded by mesenchyme and positioned between the embryonic bladder and pelvic urethra.


isolated optic nerve hypoplasia

A congenital abnormality characterized by the underdevelopment of both optic nerves.


Aplasia of the retina

A developmental defect characterized by absence of the retina.


Optic disc hypoplasia

Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.


Aplasia/Hypoplasia of the fovea

Congenital absence or underdevelopment of the fovea centralis.


Optic nerve aplasia

Congenital absence of the optic nerve.


Macular agenesis

A congenital defect characterized by lack of development of the macula.


septooptic dysplasia

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.


Hypoplasia of the fovea

Underdevelopment of the fovea centralis.


Aplasia of the fovea

Congenital absence of the fovea.


Macular hypoplasia

Underdevelopment of the macula lutea.


familial isolated hyperparathyroidism

A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.


hyperparathyroidism 2 with jaw tumors

An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


Adult Acute Eosinophilic Leukemia

An acute eosinophilic leukemia occurring in adults.


An abnormal increase in the number of mitochondria per cardiac myocyte.


teeth, supernumerary

An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.


Mesiodens

A supernumerary tooth in the midline between the maxillary central incisors.


Supernumerary maxillary incisor

The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.


chromosome 4q21 deletion syndrome

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.


Metastatic Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Unresectable Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that is not amenable to surgical resection.


Unresectable Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that is not amenable to surgical resection.


high grade serous adenocarcinoma of ovary

A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.


Refractory Ovarian Low Grade Serous Adenocarcinoma

Ovarian low-grade serous adenocarcinoma that is resistant to treatment.


Locally Advanced Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


low grade serous adenocarcinoma of ovary

A slow-growing serous adenocarcinoma that arises from the ovary.  It usually originates from borderline neoplastic processes or adenofibromas.  It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.


Recurrent Ovarian High Grade Serous Adenocarcinoma

The reemergence of ovarian high-grade serous adenocarcinoma after a period of remission.


Metastatic Ovarian Serous Cystadenocarcinoma

Ovarian serous cystadenocarcinoma that has spread from the original site of growth to other anatomic sites.


Recurrent Ovarian Low Grade Serous Adenocarcinoma

The reemergence of ovarian low-grade serous adenocarcinoma after a period of remission.


Advanced Ovarian Serous Cystadenocarcinoma

Ovarian serous cystadenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Locally Advanced Ovarian Serous Cystadenocarcinoma

Ovarian serous cystadenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Advanced Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Refractory Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that is resistant to treatment.


Refractory Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that is resistant to treatment.


Metastatic Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Recurrent Ovarian Serous Adenocarcinoma

The reemergence of ovarian serous adenocarcinoma after a period of remission.


Recurrent Ovarian Serous Cystadenocarcinoma

The reemergence of ovarian serous cystadenocarcinoma after a period of remission.


Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


hypobetalipoproteinemia

A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.


Decreased VLDL cholesterol concentration

A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.


mitochondrial complex III deficiency nuclear type 8

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.


negative regulation of methane biosynthetic process from methylamine

Any process that stops, prevents or reduces the frequency, rate or extent of methane biosynthetic process from methylamine.


negative regulation of dipeptide transmembrane transport

Any process that stops, prevents or reduces the frequency, rate or extent of dipeptide transmembrane transport.


mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any mesenchymal cell apoptotic process that is involved in mesonephric nephron morphogenesis.


mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis

Any mesenchymal cell apoptotic process that is involved in metanephric nephron morphogenesis.


mesenchymal cell apoptotic process involved in nephron morphogenesis

Any mesenchymal cell apoptotic process that is involved in nephron morphogenesis.


mesenchymal cell apoptotic process involved in metanephros development

Any mesenchymal cell apoptotic process that is involved in metanephros development.


Delayed ossification of the trapezium

Formation of bone tissue of trapezium is less than expected for age.


all-trans retinol 3,4-desaturase activity

Catalysis of the reaction: all-trans-retinol + 2 H+ + O2 + 2 reduced [adrenodoxin] = all-trans-3,4-didehydro retinol + 2 H2O + 2 oxidized [adrenodoxin].


Stage IIB Pancreatic Cancer AJCC v6 and v7

Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor limited to the pancreas, 2 cm or less in greatest dimension.  T2: Tumor limited to the pancreas, more than 2 cm in greatest dimension. T3: Tumor extends beyond the pancreas but without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Catalysis of the reaction: N-acetyl-D-galactosaminyl-(1,3)-D-galactosyl-(1,4)-D-galactosyl-(1,4)-D-glucosylceramide + UDP-N-acetylgalactosamine = N-acetyl-D-galactosaminyl-N-acetyl-D-galactosaminyl-(1,3)-D-galactosyl-(1,4)-D-galactosyl-(1,4)-D-glucosylceramide + UDP.


fatty acid primary amide biosynthetic process

The chemical reactions and pathways resulting in the formation of a fatty acid primary amide.


octanol biosynthetic process

The chemical reactions and pathways resulting in the formation of octanol, the 8-carbon alcohol with the formula C8H17OH.


butyryl-CoA catabolic process to butanol

The chemical reactions a resulting in the resulting in the breakdown of butyryl-CoA to form butanol.


phytol biosynthetic process

The chemical reactions and pathways resulting in the formation of phytol, (2E,7R,11R)-3,7,11,15-tetramethylhexadec-2-en-1-ol.


lovastatin biosynthetic process

The chemical reactions and pathways resulting in the formation of lovastatin (also known as mevinolin, mevacor or monacolin K), a hypolipidemic inhibitor of (3S)-hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase (HMGR).


propan-2-ol biosynthetic process

The chemical reactions and pathways resulting in the formation of propan-2-ol.


phytol salvage

A process that generates phytol, (2E,7R,11R)-3,7,11,15-tetramethylhexadec-2-en-1-ol, from derivatives of it without de novo synthesis.


1-butanol biosynthetic process

The chemical reactions and pathways resulting in the formation of 1-butanol, an alkyl primary alcohol with the formula C4H10O.


fatty alcohol biosynthetic process

The chemical reactions and pathways resulting in the formation of fatty alcohol.


fatty acid methyl ester biosynthetic process

The chemical reactions and pathways resulting in the formation of fatty acid methyl ester.


cytokinin catabolic process

The chemical reactions and pathways resulting in the breakdown of cytokinins, a class of adenine-derived compounds that can function in plants as plant growth regulators.


discadenine catabolic process

The chemical reactions and pathways resulting in the breakdown of discadenine, (2S)-2-amino-4-{6-[(3-methylbut-2-en-1-yl)amino]-3H-purin-3-yl}butanoic acid.


isopentenyl adenine catabolic process

The chemical reactions and pathways resulting in the breakdown of the cytokinin 6-isopentenyladenine.


X-linked adrenal hypoplasia congenita

A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.


Adrenal medullary hypoplasia

Developmental hypoplasia of the adrenal medulla.


Adrenal hypoplasia

Developmental hypoplasia of the adrenal glands.


Interphalangeal Joint 2 of the Hand

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A ginglymoid (hinge) synovial joint between the phalanges of the second digit of the hand.


Anterior chamber cells grade 2+

Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Abnormal timing of dark-adapted dim flash electroretinogram


Retinal peau d'orange

A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.


uveal melanoma

A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.


Abnormal flash visual evoked potentials

Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.


Hypophoria

A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.


Abnormal sclera morphology

An abnormality of the sclera.


Pattern dystrophy of the retina

A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).


cryptophthalmia

A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.


cone-rod dystrophy

Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.


Inferior rectus muscle restriction

Mechanical limitation of the range of movement of the inferior rectus muscle.


Consecutive exotropia

Exotropia in an individual who has previously had esotropia or esophoria.


Cone monochromacy

The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.


Chorioretinal scar

Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.


lagophthalmos

A condition in which the eyelids do not close to cover the eye completely.


ptosis, hereditary congenital, 1

Congenital ptosis is characterized by superior eyelid drop present at birth.


Abnormal blink rate

A deviation from the normal frequency of blinking the eye.


Branch retinal vein occlusion

Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.


Axial myopia

A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.


Anterior chamber cyst

A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.


hypopyon

An accumulation of pus in the anterior chamber of the eye.


band keratopathy

The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.


Foveal degeneration

Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.


Macular hypopigmentation

Decreased amount of pigmentation in the macula lutea.


Basic constant esotropia

A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).


Abnormal ocular adnexa morphology

A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Abnormality iris morphology

An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.


Lymphangioma of the orbit

A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.


Retinal arteriolar occlusion

Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.


Abnormal vitreous humor morphology

Any structural anomaly of the vitreous body.


Megalopapilla

A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.


Optic disc pallor

A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.


Simulated distance exotropia

Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.


Supernormal dark-adapted bright flash electroretinogram b-wave


Vitreous haze

Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.


inherited retinal dystrophy

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.


Very low visual acuity

A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).


Upper eyelid edema

Edema in the region of the upper eyelid.


Scleral rupture

Breakage of the sclera.


Anterior cortical cataract

A cataract that affects the anterior part of the cortex of the lens.


Retinal hole

A small break in the retina.


Diffuse nuclear cataract

Opacity of the entire lens nucleus.


Brown syndrome

Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.


Vertical supranuclear gaze palsy

A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.


Multifocal sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.


Central posterior corneal opacity

Reduced transparency of the central posterior portion of the corneal stroma.


Lamellar cataract with riders

Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.


Medial flaring of the eyebrow

An abnormal distribution of eyebrow hair growth in the medial direction.


Hemiretinal vein occlusion

A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.


achromatopsia 2

Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.


High myopia

A severe form of myopia with greater than -6.00 diopters.


Delayed canalization of nasolacrimal duct

A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.


autosomal recessive pericentral pigmentary retinopathy

A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.


Deuteranomaly

A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.


Sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.


Increased corneal thickness

A increased anteroposterior thickness of the cornea.


anisometropia

A condition of an inequality of refractive power of the two eyes.


Ectopic fovea

An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.


Hypoplasia of the iris

Congenital underdevelopment of the iris.


preretinal fibrosis

A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)


Geographic atrophy

Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.


Abnormal foveal morphology

An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.


Dissociated vertical deviation

An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.


Limbal stem cell deficiency

A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.


Opacification of the corneal stroma

Reduced transparency of the stroma of cornea.


internal hordeolum

A hordeolum that results from infection of a meibomian gland.


pinguecula

A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.


Placoid macular lesion

Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.


Increased vertical cup-to-disc ratio - 0.6

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).


Lentiglobus

Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.


Diffuse optic disc pallor

A pale yellow discoloration of the entire optic disc.


Corneal keratic precipitates

An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.


Microtropia

A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.


birdshot chorioretinopathy

Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.


Abnormal amplitude of flash visual evoked potentials


Abnormal conjugate eye movement

Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.


Abnormal best corrected visual acuity test


open-angle glaucoma

Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.


Age-related cortical cataract

A type of age-related cataract that primarily affects the cortex of the lens.


Medial rectus muscle restriction

Mechanical limitation of the range of movement of the medial rectus muscle.


Abnormal anterior chamber morphology

Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.


Vertical orbital dystopia

The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.


Deuteranopia

Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.


alternating esotropia

Esotropia in which either eye may be used for fixation.


Foveal hyperpigmentation

Increased amount of pigmentation in the fovea centralis.


Anterior subcapsular cataract

A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.


Double eyebrow

This may present as a partial or complete duplication of the eyebrows.


Oscillopsia

A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).


Non-accomodative esotropia

A form of esotropia in which the angle of deviation is not affected by accommodative effort.


Vascular remnant arising from the disc

Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.


Subretinal fluid

Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.


Congenital stationary night blindness with normal fundus


Cyclodeviation

Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.


Shallow orbits

Reduced depth of the orbits associated with prominent-appearing ocular globes.


Congenital hypertrophy of retinal pigment epithelium

Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.


Abnormal amplitude of pattern reversal visual evoked potentials


Curly eyelashes

Abnormally curly or curved eyelashes.


Myopic astigmatism

A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.