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

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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.


growth hormone secreting pituitary adenoma 1


fallopian tube carcinoma

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


prostatic adenoma

Focal benign glandular hyperplasia in the prostate gland.


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.


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.


follicular thyroid adenoma

A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.


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).


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.


papilloma

A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.


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.


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.


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.


prostate carcinoma

A carcinoma that arises from epithelial cells of the prostate gland.


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.


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.


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.


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.


ephrin type-A receptor 3, signal peptide removed phosphorylated 1 (human)

An ephrin type-A receptor 3 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 596 and 602 of the amino acid sequence represented by UniProtKB:P29320. UniProtKB:P29320, 21-983, Tyr-596/Tyr-602, MOD:00048.


isoflavonoid

Any 1-benzopyran with an aryl substituent at position 3. The term was originally restricted to natural products, but is now also used to describe semi-synthetic and fully synthetic compounds.


isoflavones

Any isoflavonoid with a 3-aryl-1-benzopyran-4-one (3-aryl-4H-chromen-4-one) skeleton and its substituted derivatives.


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

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

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.


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.


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.


NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human)

An NAD(P)H dehydrogenase [quinone] 1 isoform 1 that is encoded in the genome of human.


NAD(P)H dehydrogenase [quinone] 1 isoform 1 acetylated 1 (human)

An NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human) that is N-terminal Met acetylated. UniProtKB:P15559-1, Met-1, MOD:00058.


dermoid cyst of ovary

A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.


dual specificity mitogen-activated protein kinase kinase 5 isoform A (human)

A dual specificity mitogen-activated protein kinase kinase 5 isoform 2 that is encoded in the genome of human.


A  dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine-5-carboxamide substituted by hydroxy groups at positions 10 and 11. It is a metabolite of the drug carbamazepine.


The (10S,11S)-enantiomer of 10,11-trans-dihydroxy-10,11-dihydrocarbamazepine.


The (10R,11R)-enantiomer of 10,11-trans-dihydroxy-10,11-dihydrocarbamazepine.


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.


Anandamide

An N-acylethanolamine 20:4 resulting from the formal condensation of carboxy group of arachidonic acid with the amino group of ethanolamine.


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.


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.


Locally Advanced Ovarian Serous Adenocarcinoma

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


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.


Hypocholesterolemia

An decreased concentration of cholesterol in the blood.


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.


GTPase KRas isoform 2A (human)

A GTPase KRas isoform 1 that is encoded in the genome of human.


GTPase KRas isoform 2B (human)

A GTPase KRas isoform 2 that is encoded in the genome of human.


Delayed ossification of the trapezium

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


Childhood Acute Myeloid Leukemia with NUP98 Rearrangement

An acute myeloid leukemia that occurs in childhood and is characterized by the rearrangement of the NUP98 gene.


Acute Megakaryoblastic Leukemia with NUP98-KDM5A

A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with t(11;12)(p15;p13) which results in the presence of NUP98-KDM5A chimeric oncogene.


acute myeloid leukemia, t(5;11)(q35;p15)

Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)


acute myeloid leukemia, t(11;15)(p15;q35)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)


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.)


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.


serine/threonine-protein kinase PAK 3 isoform 2 (human)

A serine/threonine-protein kinase PAK 3 isoform 2 that is encoded in the genome of human.


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.


Subconjunctival hemorrhage

Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.


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.


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.


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.


Koeppe nodules

A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.


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


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.


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.


Focal necrotic optic nerve lesion

A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve.


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


Corneal stromal edema

Abnormal accumulation of fluid and swelling of the stroma of cornea.


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.


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.


ophthalmoplegia

Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.


Tapetal-like fundal reflex

Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.


Decreased tear drainage

A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.


Horizontal supranuclear gaze palsy

A supranuclear gaze palsy is an inability to look in a horizontal 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.


Superior oblique muscle overaction

An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.


alternating exotropia

A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.


Retinopathy of prematurity prethreshold

High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.


Intraretinal hyporeflective spaces on macular OCT


Peripheral cystoid retinal degeneration

Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.


Internal ophthalmoplegia

Paralysis of the iris and ciliary apparatus.


Grouped congenital hypertrophy of retinal pigment epithelium


occult macular dystrophy

Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.


congenital primary aphakia

Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.


Impaired ocular abduction

An impaired ability of the eye to move in the outward direction (towards the side of the head).


Increased basal tear production

A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.


Corneal asymmetry

The presence of a size difference between the left and right cornea.


Conjunctival hamartoma

A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.


rubeosis iridis

New growth of vessels on the surface of the iris.


Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Conjunctival cicatrization

An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.


Choroidal vascular hyperpermeability

Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).


senile cataract

A cataract with no obvious cause occurring in persons over 50 years old.


Punctate keratitis

A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.


Cyclophoria

A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.


primary anetoderma

Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.


True distance exotropia

Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.


Upgaze palsy

A limitation of the ability to direct one's gaze above the horizontal meridian.


Abnormal amplitude of light-adapted flicker electroretinogram


Limited horizontal extraocular movement

Limited mobility of the eye to move from side to side (horizontally) within its socket.


Corneal scarring

Trauma to the cornea of the eye.


Abnormal fundus autofluorescence imaging

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.


Blue sclerae

An abnormal bluish coloration of the sclera.


Phthisis bulbi

Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.


Conjunctival amyloidosis

A form of amyloidosis that affects the conjunctiva.


Abnormal medial rectus muscle physiology

A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.


hypotropia

Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.


Lenticular astigmatism

A type of astigmatism related to an irregular shape of the lens.


Reduced contrast sensitivity

An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.


isolated ectopia lentis

Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.


Horner syndrome

Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.


Divergence nystagmus

A condition in which both eyes beat outward simultaneously.


Gaze-evoked nystagmus

Nystagmus made apparent by looking to the right or to the left.


jaw-winking syndrome

Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis.


Recurrent corneal erosions

The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.


Lens luxation

Complete dislocation of the lens of the eye.


Foveal photoreceptor outer segment loss on macular OCT


Visual fixation instability

A deficit in the ability to fixate eye movements in order to stabilize images on the retina


Vitreous inflammatory cells

The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.


Abnormality of globe location

An abnormality in the placement of the ocular globe (eyeball).


Abnormal Humphrey SITA 30-2 perimetry test


Flame-shaped retinal hemorrhage

A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).


Reticular retinal dystrophy

A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.


Saccadic intrusion

An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.


central retinal artery occlusion

Blockage of the central retinal artery.


Paravenous chorioretinal atrophy

Chorioretinal atrophy along the retinal veins.


Macular crystals

Crystalline deposits in the macula.


Sudden loss of visual acuity

Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.


Dense posterior cortical cataract

A type of posterior cortical cataract characterized by dense lenticular opacities.


Ultra-low vision with no light perception

Ultra-low vision with complete lack of light and form perception.


Blue irides

A markedly blue coloration of the iris.


cystoid macular retinal degeneration

A form of macular degeneration characterized by the presence of multiple cysts in the macula.


Inferior rectus muscle overaction

Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Anophthalmia

Absence of the globe or eyeball.


Vitreomacular traction

Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.


Increased vertical cup-to-disc ratio - 0.9

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).


euryblepharon

Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.


Conjunctival lipoma

A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.


Abnormality of pattern onset/offset visual evoked potentials


Photoreceptor outer segment loss on macular OCT


Abnormal timing of pattern onset/offset visual evoked potentials


Intraretinal hemorrhage

A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.


Retinal coloboma

A notch or cleft of the retina.


Retinopathy of prematurity stage 5b

A closed funnel detachment of the retina with generally traction in all four quadrants.


Exophoria

A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.


Abnormal line of Schwalbe morphology

An abnormality of the line of Schwalbe.


Macular hemorrhage

Bleeding occurring within the macula lutea of the retina.


Compensatory head tilt to the right shoulder

A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.


Abnormal Esterman grid perimetry test

The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.


Oculomotor synkinesis

Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.


familial congenital nasolacrimal duct obstruction

No identifiable superior and/or inferior lacrimal punctum.


Abnormal dark-adapted bright flash electroretinogram


Abnormal eye physiology

A functional anomaly of the eye.


Abnormality of vision

Abnormality of eyesight (visual perception).


Leukocoria

An abnormal white reflection from the pupil rather than the usual black reflection.


Supranuclear gaze palsy

A supranuclear gaze palsy is an inability to look in a particular 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.


cataract 5 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.


Abnormal amplitude of dark-adapted dim flash electroretinogram


malignant choroid melanoma

A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.


Abnormal inferior rectus muscle physiology

A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.


Falciform retinal fold

An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.


Medial rectus muscle weakness

Decreased strength of the medial rectus muscle.


Peripheral retinal neovascularization

A type of retinal neovascularization that affects the periphery of the retina.


Heterotropia

Manifest deviation of the visual axes not controlled by fusion.


Very severe constriction of peripheral visual field

Peripheral visual field constriction with <10 degrees central field preserved.


Asymmetry of intraocular pressure

A difference in the amount of intraocular pressure in the right and left eye.


Abnormality of refraction

An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.


Posterior subcapsular cataract

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


Anterior chamber cells grade 0

Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior pyramidal cataract

A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.


Microtropia with identity

A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.


Convergence-retraction nystagmus

Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.


Mizuo phenomenon

Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].


Epicanthus superciliaris

A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).


Posterior Y-sutural cataract

A type of sutural cataract in which the opacity follows the posterior Y suture.


Chaotic rapid conjugate ocular movements


No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.


Pseudoexfoliation

Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.


Slow pupillary light response

Reduced velocity and acceleration in the pupillary light response.


Cortical pulverulent cataract

A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.


Patchy atrophy of the retinal pigment epithelium

Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.


heterochromia iridis

Heterochromia iridis is a difference in the color of the iris in the two eyes.


Inferior retinal coloboma

A notch or cleft of the lower part of the retina.


Epicanthus tarsalis

A type of epicanthus in which a primarily upper lid fold is present.


Abnormal trabecular meshwork morphology

An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.


Alacrima

Absence of tear secretion.


corneal neovascularization

New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.


Hemeralopia

A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.


Abnormal superior oblique muscle physiology

A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.


irregular astigmatism

A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.


Convergence excess esotropia

An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.


Distance esotropia

An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.


Pendular nystagmus

Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.


Dichromacy

Individuals affected by dichromacy possess only two types of cones, instead of three.


Wagner disease

Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.


lens subluxation

A partial dislocation of the lens of the eye.


Cyclopia

Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.


Peripapillary atrophy

Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.


early-onset anterior polar cataract

A polar cataract that affects the anterior pole of the lens.


Phenylephrine does not induce blanching of eye redness

Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis.


Abnormal pupillary light reflex

An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.


Retinal flecks

Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.


Abnormal foveal morphology on macular OCT


Abnormal automated kinetic perimetry test


Dysmetric saccades

The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.


Superficial episcleral hyperemia

Prominence of blood vessels of the superficial episcleral tissues.


sclerocornea

A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.


Abnormally large globe

Diffusely large eye (with megalocornea) without glaucoma.


Retinopathy of prematurity zone II

Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.


Abnormal intraocular pressure

An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.


Abnormality of central retinal artery

An abnormality of a central retinal artery.


paralytic lagophthalmos

A type of lagophthalmos that occurs in association with facial nerve palsy.


Hypometric saccades

Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.