mammary Paget disease

description: 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.


name: bladder tubulo-cystic clear cell adenocarcinoma

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: 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

description: A renal papillary adenoma which is characterized by eosinophilic cells.


acinic cell breast carcinoma

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


adrenal medulla carcinoma

description: A carcinoma that arises from epithelial cells of the adrenal medulla


external ear carcinoma

description: A carcinoma that arises from epithelial cells of the external ear


urothelial neoplasm

description: A neoplasm involving a urothelium.


ovarian mucinous adenocarcinofibroma

description: 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.


name: uterine ligament mucinous adenocarcinoma

description: A rare mucinous adenocarcinoma that arises from the uterine ligament.


carcinoma of the vocal tract

description: A carcinoma that involves the laryngeal vocal fold.


name: acinar prostate adenocarcinoma, foamy gland variant

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


glycogen-rich carcinoma

description: 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

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


frontal sinus cancer

description: A malignant neoplasm involving the frontal sinus.


invasive tubular breast carcinoma

description: 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

description: 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

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


fallopian tube mucinous adenocarcinoma

description: 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

description: 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.


cervical villoglandular adenocarcinoma

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


hidradenoma

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


female breast axillary tail cancer

description: A cancer that involves the UBERON:0035289.


Paget disease of the nipple

description: 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

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


signet ring cell breast carcinoma

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


bladder colonic type adenocarcinoma

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


ovarian papillary cystadenoma

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


silent pituitary adenoma

description: A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.


name: intestinal variant cervical mucinous adenocarcinoma

description: A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.


squamous papillomatosis

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


sphenoid sinus Schneiderian papilloma

description: 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

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


vulva basal cell carcinoma

description: 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.


name: infantile hemangioma of rare localization


Brenner tumor

description: 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

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


micropapillary serous carcinoma

description: 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

description: 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

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


vaginal glandular neoplasm

description: 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

description: A cavernous hemangioma that involves the retina.


name: primary intraosseous venous malformation

description: 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

description: 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.


name: bladder sarcomatoid transitional cell carcinoma

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


urethral verrucous carcinoma

description: A verrucous carcinoma that involves the urethra.


invasive malignant thymoma

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


penis mixed squamous cell carcinoma

description: 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).


name: acinar prostate adenocarcinoma, signet ring variant

description: 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

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


ovarian squamous cell neoplasm

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


large cell acanthoma

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


name: lymphedema-posterior choanal atresia syndrome


name: secretory uterine corpus endometrioid adenocarcinoma

description: 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.


morpheaform basal cell carcinoma

description: 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.


maxillary sinus inverted papilloma

description: 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

description: A papillary carcinoma that involves the body of uterus.


ethmoid sinus adenoid cystic carcinoma

description: An adenoid cystic carcinoma that affects the ethmoid sinus.


cervical adenoid cystic carcinoma

description: 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.


TFEB-rearranged renal cell carcinoma

description: A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene.


childhood choroid plexus carcinoma

description: A choroid plexus carcinoma that occurs during childhood.


mixed cell type adenoma of parathyroid

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


benign adrenal gland pheochromocytoma

description: 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

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


breast apocrine adenoma

description: 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.


name: grade III prostatic intraepithelial neoplasia

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


sarcomatoid squamous cell carcinoma

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


name: dermal unilateral segmental cavernous angioma


name: undifferentiated carcinoma of the corpus uteri

description: 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

description: 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

description: 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

description: 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

description: Carcinoma of the ureter without spread to any other region.


name: cerebrofacial arteriovenous metameric syndrome

description: 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

description: 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.


papillary urothelial neoplasm

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


nasal vestibule squamous papilloma

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


vestibular micropapillomatosis

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


vestibular papilloma

description: 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.


name: cervical mucinous adenocarcinoma, minimal deviation variant

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


name: renal cell carcinoma associated with neuroblastoma

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


name: renal pelvis papillary urothelial carcinoma

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


fallopian tube adenocarcinoma

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


name: signet ring cell variant cervical mucinous adenocarcinoma

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


endometrial mixed adenocarcinoma

description: 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

description: A hemangioma characterized by the presence of hobnail endothelial cells.


name: female breast upper-outer quadrant cancer


name: bladder papillary clear cell adenocarcinoma

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


name: paranasal sinus mucoepidermoid carcinoma

description: 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

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


name: ductal breast carcinoma in situ and lobular carcinoma in situ

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


name: metastatic carcinoma in the adrenal medulla

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


Wolffian adnexal tumor

description: 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

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


malignant type A thymoma

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


middle ear carcinoma

description: A carcinoma that arises from epithelial cells of the middle ear


vulvar glandular neoplasm

description: 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.


name: childhood adrenal gland pheochromocytoma

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


infiltrating urothelial carcinoma

description: A invasive carcinoma that involves the urothelium.


uterine ligament serous adenocarcinoma

description: A rare serous adenocarcinoma that arises from the uterine ligament.


middle ear squamous cell carcinoma

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


cystic renal cell carcinoma

description: 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.


aniridia 3

description: Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.


papillary carcinoma of the penis

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


seminal vesicle cystadenoma

description: A rare benign cystadenoma that arises from the seminal vesicle.


name: normal breast-like subtype of breast carcinoma

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


facial arteriovenous malformation

description: 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.


thymoma type A

description: 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

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


inverted urothelial papilloma

description: 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

description: A rare adenocarcinoma that arises from the uterine ligament.


endometrial squamous cell carcinoma

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


glandular cell neoplasm

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


name: eosinophilic variant of chromophobe renal cell carcinoma

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


ocular sebaceous carcinoma

description: 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.


name: lip and oral cavity squamous cell carcinoma

description: 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

description: 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

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


Bartholin gland adenomyoma

description: 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

description: 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

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


name: uterine ligament endometrioid adenocarcinoma

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


cutaneous Paget disease

description: 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.


sebaceous breast carcinoma

description: A very rare breast adenocarcinoma with sebaceous differentiation.


ethmoid sinus squamous cell carcinoma

description: 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.


name: rapidly involuting congenital hemangioma

description: 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

description: 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

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


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

description: 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.


Vertebral clefting

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Schisis (cleft or cleavage) of vertebral bodies.


Coronal cleft vertebrae

description: Frontal schisis (cleft or cleavage) of vertebral bodies.


Anterior clefting of vertebral bodies

description: Anterior schisis (cleft or cleavage) of vertebral bodies.


Butterfly vertebrae

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


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.


A 7,2'-dihydroxy-4'-methoxyisoflavanol that has R configuration at position 3.


glycosyloxyisoflavone

A member of the class of isoflavones having one or more glycosyl residues attached at unspecified positions.


malonylgenistin

A  glycosyloxyisoflavone that is genistin in which the hydroxy hydrogen at position 6'' has been replaced by a malonyl group.


(+/-)-FUROWANIN B

A hydroxyisoflavone that is 8,9-dihydro-4H-furo[2,3-h]chromen-4-one substituted by a hydroxy group at position 5, a 3,4-dihydroxyphenyl group at position 3, a 2-hydroxypropan-2-yl group at position 8 and a prenyl group at position 6. Isolated from Millettia pachycarpa, it exhibits anti-estrogenic activity.


A member of the class of 7-hydroxyisoflavones that is 3-phenyl-4H-chromen-4-one which is substituted by a hydroxy group at position 7 and chloro groups at positions 2' and 4'. It is a SIRT1 activator.


Any methoxyisoflavone which has a methoxy group at the 4-position of the phenyl substituent.


hydroxyisoflavanone

Any member of the class of isoflavanones with at least one hydroxy substituent.


A glycosyloxyisoflavone that is calycosin substituted by a beta-D-glucopyranosyl residue at position at 7 via a glycosidic linkage.


A member of the class of isoflavans that is isoflavan-4-ol substituted at positions 7 and 2' by hydroxy groups and at position 4' by a methoxy group.


glycitin

A glycosyloxyisoflavone that is isoflavone substituted by a methoxy group at position 6, a hydroxy group at position 4' and a  beta-D-glucopyranosyloxy group at position 7.


isowigtheone hydrate

A member of the class of 7-hydroxyisoflavones that is isoflavone substituted by hydroxy groups at positions 5, 7 and 4' and a 3-hydroxy-3-methylbutyl moiety at position 3'. Isolated from the root barks of Brosimum utile, it exhibits cytotoxicity  against cell lines like MCF7 (human breast carcinoma), PC3 (human prostate carcinoma), HT29 (human colon cancer) and human dermis fibroblasts.


The diastereomer of 7,2'-dihydroxy-4'-methoxyisoflavanol that has 3R,4R-configuration.


A monosaccharide derivative that is (R)-isoflavan substituted by a hydroxy group substituted at position 2', methoxy groups at positions 3' and 4' and a beta-D-glucopyranosyloxy group at position 7 respectively.


DIHYDROGENISTIN

A hydroxyisoflavanone that is dihydrogenistein in which the phenolic hydrogen at position 7 has been replaced by a beta-D-glucosyl residue.


IRIDIN

A glycosyloxyisoflavone that is  irigenin substituted by a beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage.


methoxyisoflavanone

Members of the class of isoflavanones with at least one methoxy substituent.


methoxyisoflavone

Members of the class of isoflavones with at least one methoxy substituent.


7-HYDROXY ISOFLAVONE

The simplest member of the class of 7-hydroxyisoflavones that is isoflavone with a hydroxy substituent at position 7.


conferol B

A member of the class of isoflavans that is isoflavan with a hydroxy group at position 4, a methyl group at position 7 and a methoxy group at position 2'   (the 3R,4S stereoisomer). It is isolated from Caragana conferta and exhibits significant anti-inflammatory activity in the respiratory burst assay.


ONONIN

A 4'-methoxyisoflavone that is formononetin attached to a beta-D-glucopyranosyl moiety at position 7 via a glycosidic linkage.


Any methoxyisoflavone that has a methoxy group at the 7-position of the isoflavone moiety.


MILLEWANIN G

A member of the class of 7-hydroxyisoflavones that is isoflavone substituted by hydroxy groups at positions 5, 7, 3' and 4', a prenyl group at position 8 and a 2-hydroxy-3-methylbut-3-enyl moiety at position 6. Isolated from the leaves of Millettia pachycarpa, it exhibits antiestrogenic activity.


A glycosyloxyisoflavone that is 7-hydroxyisoflavone attached to a beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage.


A glycosyloxyisoflavone that is daidzein in which the phenolic hydrogen at position 7 has been replaced by a 6-O-acetyl-beta-D-glucosyl residue.


hydroxyisoflavans

A member of the class of isoflavans in which one or more ring hydrogens are replaced by hydroxy groups.


A 7-[beta-D-apiofuranosyl-(1->6)-beta-D-glucopyranosyloxy]isoflavone having four methoxy substituents at the 2'-, 4'-, 5'- and 6-positions.


A glycosyloxyisoflavone that is glycitin carrying an acetyl substituent at position 6 on the glucose moiety.


A 7,2'-dihydroxy-4'-methoxyisoflavanol that has 3S,4R configuration.


millewanin H

A hydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 5, 7, 3' and 4', a prenyl group at position 6 and a 2-hydroxy-3-methylbut-3-enyl moiety at position 8. Isolated from the leaves of Millettia pachycarpa, it exhibits antiestrogenic activity.


isoflavans

Any isoflavonoid with a 3,4-dihydro-3-aryl-2H-1-benzopyran skeleton and its substituted derivatives.


conferol A

A member of the class of isoflavans that is isoflavan with hydroxy substituents at positions 4, 7 and 4' and a methoxy group at position 2 (the 3R,4S stereoisomer). It is isolated from Caragana conferta and exhibits significant anti-inflammatory activity in the respiratory burst assay.


A hydroxyisoflavone compound having a hydroxy group at the 7-position.


kievitone hydrate

A hydroxyisoflavanone that is isoflavanone substituted by hydroxy groups at positions 5, 7, 2' and 4' and  a 3-hydroxy-3-methylbutyl group at position 8.


A glycosyloxyisoflavone that is biochanin A 7-O-beta-D-glucoside in which the hydroxy group at position 6 of the glucosyl moiety has been acylated by one of the carboxy groups of malonic acid.


isoflavanones

Members of the class of isoflavans that have a 3,4-dihydro-3-aryl-2H-1-benzopyran-4-one skeleton and its substituted derivatives.


biochanin A 7-O-beta-D-glucoside

A glycosyloxyisoflavone that is biochanin A attached to a  beta-D-glucopyranosyl residue at position 7 via glycosidic linkage.


hydroxyisoflavone

Member of the class of isoflavones bearing at least one hydroxy group.


TECTORIDIN

A glycosyloxyisoflavone that is  tectorigenin substituted by a beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage.


A glycosyloxyisoflavone that is any 7-hydroxyisoflavone compound in which the 7-hydroxy group has been converted into its corresponding O-beta-D-glucoside.


A glycosylgalactose consisting of an alpha-D-glucopyranose residue and a D-galactofuranose residue joined in sequence by a (1->2) glycosidic bond


name: zinc finger FYVE domain-containing protein 16 deaminated 2 (human)

description: A zinc finger FYVE domain-containing protein 16 (human) that has been deaminated on the residue at the position equivalent to Gln-1094 of the amino acid sequence represented by UniProtKB:Q7Z3T8-1. Example: UniProtKB:Q7Z3T8-1, Gln-1094, MOD:00685.


Unresectable Lung Small Cell Carcinoma

description: Lung small cell carcinoma that is not amenable to surgical resection.


isogloboside

An oligoglycosylceramide in which two galactose residues are linked via an alpha-(1->3)-linkage (vs alpha-(1->4) for globosides).


The N-tetracosanoyl derivative of isoglobotriaosyl ceramide.


Any glycotetraosylceramide in which the tetraosyl moiety consists of an N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl group.


N-octanoylisoglobotriaosyl ceramide

The N-octanoyl derivative of isoglobotriaosyl ceramide.


A glycotriaosylceramide having alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl as the glycotriaosyl component.


ISOGLOBOTRIHEXOSYCERAMIDE

The N-hexacosanoyl derivative of isoglobotriaosyl ceramide.


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

description: 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.


tropomodulin-2 isoform 1 (human)

A tropomodulin-2 isoform 1 that is encoded in the genome of human.


tropomodulin-2 isoform h2 (human)

A tropomodulin-2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NZR1-2.


name: testis anion transporter 1 isoform h3 (human)

description: A testis anion transporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96RN1-3.


46 XX gonadal dysgenesis

description: 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

description: 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

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


Secondary hypercortisolism

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


name: Elevated circulating 21-deoxycortisol concentration

description: The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal.


name: Pseudoepiphysis of the proximal phalanx of the 4th toe

description: 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.


tRNA-specific adenosine deaminase 2

A protein that is a translation product of the human ADAT2 gene or a 1:1 ortholog thereof.


name: tRNA-specific adenosine deaminase 2 isoform h2 (human)

description: A tRNA-specific adenosine deaminase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7Z6V5-2.


name: tRNA-specific adenosine deaminase 2 isoform 1 (human)

description: A tRNA-specific adenosine deaminase 2 isoform 1 that is encoded in the genome of human.


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

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


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

description: 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

description: 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.


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

description: 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.


Aplasia of the retina

description: A developmental defect characterized by absence of the retina.


Optic disc hypoplasia

description: 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

description: Congenital absence or underdevelopment of the fovea centralis.


Optic nerve aplasia

description: Congenital absence of the optic nerve.


Macular agenesis

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


Hypoplasia of the fovea

description: Underdevelopment of the fovea centralis.


Aplasia of the fovea

description: Congenital absence of the fovea.


Macular hypoplasia

description: Underdevelopment of the macula lutea.


(8E,10S)-10-hydroxy-8-octadecenoic acid

A HOME in which the hydroxy group is located at position 10 with the double bond at position 8 (the 8E,10S-isomer).


name: fatty acid CoA ligase Acsl3 deaminated 1 (human)

description: A fatty acid CoA ligase Acsl3 (human) that has been deaminated on the residue at the position equivalent to Asn-444 of the amino acid sequence represented by UniProtKB:O95573. UniProtKB:O95573, Asn-444, MOD:00684.


Generalized Pustular Psoriasis

description: A genetically heterogenous autoinflammatory condition characterized by sterile non-follicular pustules over wide areas of the body.  It is a rare and severe form of psoriasis, and may result in death if not treated.


psoriasis 14, pustular

description: Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.


CDC73-Related Neoplastic Syndrome

description: A group of autosomal dominant-inherited disorders caused by mutation(s) in the CDC73 gene, encoding parafibromin. These disorders are associated with hyperparathyroidism secondary to parathyroid neoplasms.


Hyperparathyroidism-Jaw Tumor Syndrome

description: 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.


glycophorin-C isoform h3 (human)

A glycophorin-C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04921-3.


name: glycophorin-C isoform Glycophorin-C (human)

description: A glycophorin-C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04921-1.


glycophorin-C O-glycosylated 2 (human)

A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Ser-42 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04921-1, Ser-42, MOD:00002~GNO:G43417UB.


glycophorin-C O-glycosylated 4 (human)

A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P04921-1, Thr-31, MOD:00005~GNO:G57317CE.


glycophorin-C O-glycosylated 6 (human)

A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-33 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04921-1, Thr-33, MOD:00005~GNO:G43417UB.


name: glycophorin-C isoform Glycophorin-D (human)

description: A glycophorin-C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04921-2.


glycophorin-C O-glycosylated 5 (human)

A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P04921-1, Thr-31, MOD:00005~GNO:G73004SD.


glycophorin-C O-glycosylated 1 (human)

A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Ser-15 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04921-1, Ser-15, MOD:00002~GNO:G43417UB.


glycophorin-C O-glycosylated 3 (human)

A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P04921-1, Thr-31, MOD:00005~GNO:G53434XO.


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


teeth, supernumerary

description: 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

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


Supernumerary maxillary incisor

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


chromosome 4q21 deletion syndrome

description: 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.


name: Metastatic Ovarian Serous Adenocarcinoma

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


name: Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that progresses between one and six months of completing platinum therapy.


name: Unresectable Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that is not amenable to surgical resection.


name: Unresectable Ovarian High Grade Serous Adenocarcinoma

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


name: high grade serous adenocarcinoma of ovary

description: 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.


name: Refractory Ovarian Low Grade Serous Adenocarcinoma

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


name: low grade serous adenocarcinoma of ovary

description: 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.


name: Recurrent Ovarian High Grade Serous Adenocarcinoma

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


name: Recurrent Ovarian Low Grade Serous Adenocarcinoma

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


name: Advanced Ovarian Serous Cystadenocarcinoma

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


name: Locally Advanced Ovarian Serous Cystadenocarcinoma

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


Advanced Ovarian Serous Adenocarcinoma

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


name: Advanced Ovarian High Grade Serous Adenocarcinoma

description: An ovarian high-grade serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Refractory Ovarian High Grade Serous Adenocarcinoma

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


name: Refractory Ovarian Serous Adenocarcinoma

description: Ovarian serous adenocarcinoma that is resistant to treatment.


name: Metastatic Ovarian High Grade Serous Adenocarcinoma

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


Recurrent Ovarian Serous Adenocarcinoma

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


name: Locally Advanced Ovarian Serous Adenocarcinoma

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


name: Recurrent Platinum-Resistant Ovarian High Grade Serous Adenocarcinoma

description: The reemergence of platinum-resistant ovarian high-grade serous adenocarcinoma after a period of remission.


name: Metastatic Ovarian Serous Cystadenocarcinoma

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


name: Platinum-Refractory Ovarian High Grade Serous Adenocarcinoma

description: Ovarian high-grade serous adenocarcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Recurrent Ovarian Serous Cystadenocarcinoma

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


name: Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma

description: An 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.


name: carbonyl reductase [NADPH] 1 methylated 1 (human)

description: A carbonyl reductase [NADPH] 1 (human) that has been methylated on the residue at the position equivalent to Cys-150 of the amino acid sequence represented by UniProtKB:P16152-1. Example: UniProtKB:P16152-1, Cys-150, MOD:00660.


name: Decreased VLDL cholesterol concentration

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


name: immunoglobulin superfamily member 3 isoform 1 (human)

description: An immunoglobulin superfamily member 3 isoform 1 that is encoded in the genome of human.


name: mitochondrial complex III deficiency nuclear type 8

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


epidermal retinol dehydrogenase 2

A protein that is a translation product of the human SDR16C5 gene or a 1:1 ortholog thereof.


name: epidermal retinol dehydrogenase 2 isoform 1 (human)

description: An epidermal retinol dehydrogenase 2 isoform 1 that is encoded in the genome of human.


name: epidermal retinol dehydrogenase 2 isoform h2 (human)

description: An epidermal retinol dehydrogenase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N3Y7-2.


name: ribosomal biogenesis protein LAS1L isoform h3 (human)

description: A ribosomal biogenesis protein LAS1L (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y4W2-3.


LAS1-like protein

A protein that is a translation product of the human LAS1L gene or a 1:1 ortholog thereof.


name: ribosomal biogenesis protein LAS1L methylated 2 (human)

description: A ribosomal biogenesis protein LAS1L (human) that has been methylated on the residue at the position equivalent to Cys-140 of the amino acid sequence represented by UniProtKB:Q9Y4W2-1. Example: UniProtKB:Q9Y4W2-1, Cys-140, MOD:00660.


name: ribosomal biogenesis protein LAS1L isoform h2 (human)

description: A ribosomal biogenesis protein LAS1L (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y4W2-2.


name: ribosomal biogenesis protein LAS1L isoform h4 (human)

description: A ribosomal biogenesis protein LAS1L (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y4W2-4.


name: ribosomal biogenesis protein LAS1L isoform h1 (human)

description: A ribosomal biogenesis protein LAS1L (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y4W2-1.


name: ribosomal biogenesis protein LAS1L methylated 3 (human)

description: A ribosomal biogenesis protein LAS1L (human) that has been methylated on the residue at the position equivalent to Cys-60 of the amino acid sequence represented by UniProtKB:Q9Y4W2-1. Example: UniProtKB:Q9Y4W2-1, Cys-60, MOD:00660.


name: ribosomal biogenesis protein LAS1L deaminated 1 (human)

description: A ribosomal biogenesis protein LAS1L (human) that has been deaminated on the residue at the position equivalent to Gln-380 of the amino acid sequence represented by UniProtKB:Q9Y4W2-1. Example: UniProtKB:Q9Y4W2-1, Gln-380, MOD:00685.


name: ribosomal biogenesis protein LAS1L cysteinylated 1 (human)

description: A ribosomal biogenesis protein LAS1L (human) that has been cysteinylated on the residue at the position equivalent to Cys-60 of the amino acid sequence represented by UniProtKB:Q9Y4W2-1. Example: UniProtKB:Q9Y4W2-1, Cys-60, MOD:00765.


name: ribosomal biogenesis protein LAS1L methylated 1 (human)

description: A ribosomal biogenesis protein LAS1L (human) that has been methylated on the residue at the position equivalent to Cys-97 of the amino acid sequence represented by UniProtKB:Q9Y4W2-1. Example: UniProtKB:Q9Y4W2-1, Cys-97, MOD:00660.


name: cysteine-rich secretory protein LCCL domain-containing 2 isoform h4 (human)

description: A cysteine-rich secretory protein LCCL domain-containing 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H0B8-4.


name: TATA-binding protein-associated factor 172 isoform h1 (human)

description: A TATA-binding protein-associated factor 172 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O14981-1.


name: visual system homeobox 2 isoform 1 (human)

description: A visual system homeobox 2 isoform 1 that is encoded in the genome of human.


name: protein Mdm4 isoform 1 phosphorylated and ubiquitinated 1 (human)

description: A protein Mdm4 isoform 1 phosphorylated and ubiquitinated 1 in human. UniProtKB:O15151-1, Ser-367, MOD:00046|MOD:01148.


protein Mdm4 ubiquitinated form (human)

A protein Mdm4 (human) that includes at least one ubiquitinated lysine. UniProtKB:O15151, MOD:01148.


name: protein Mdm4 phosphorylated and ubiquitinated 1 (human)

description: A protein Mdm4 (human) that has been phosphorylated on the residues at the positions equivalent to Ser-342, Ser-367, and Ser-403 of the amino acid sequence represented by UniProtKB:O15151-1 and that includes at least 1 ubiquitinated lysine. Example: UniProtKB:O15151-1, Ser-342/Ser-367/Ser-403, MOD:00046|MOD:01148.


kappa-casein O-glycosylated 100 (human)

A kappa-casein (human) that has been O-glycosylated at the residue equivalent to Thr-181 of the amino acid sequence represented by UniProtKB:P07498-1, in which the glycan structure is represented by GlyTouCan:G00031MO. Example: UniProtKB:P07498-1, Thr-181, MOD:00005~GNO:G00031MO.


name: tyrosine-protein kinase JAK1 deaminated 4 (human)

description: A tyrosine-protein kinase JAK1 (human) that has been deaminated on the residue at the position equivalent to Gln-565 of the amino acid sequence represented by UniProtKB:P23458. UniProtKB:P23458, Gln-565, MOD:00685.


name: transmembrane protease serine 6 isoform h3 (human)

description: A transmembrane protease serine 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IU80-2.


name: GTPase KRas isoform 2A farnesylated 1 (human)

description: A GTPase KRas isoform 2A (human) that has been farnesylated on the residue at the position equivalent to Cys-186 of the amino acid sequence represented by UniProtKB:P01116-1. UniProtKB:P01116-1, Cys-186, MOD:00111.


GTPase KRas farnesylated 1 (human)

A GTPase KRas (human) that has been farnesylated on the residue at the position equivalent to Cys-186 of the amino acid sequence represented by UniProtKB:P01116-1. Example: UniProtKB:P01116-1, Cys-186, MOD:00111.


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.


GTPase KRas deaminated 1 (human)

A GTPase KRas (human) that has been deaminated on the residue at the position equivalent to Gln-43 of the amino acid sequence represented by UniProtKB:P01116-1. Example: UniProtKB:P01116-1, Gln-43, MOD:00685.


name: GTPase KRas isoform 2B farnesylated 1 (human)

description: A GTPase KRas isoform 2B (human) that has been farnesylated on the residue at the position equivalent to Cys-185 of the amino acid sequence represented by UniProtKB:P01116-2. UniProtKB:P01116-2, Cys-185, MOD:00111.


name: erythropoietin N-glycosylated 80 (human)

description: An erythropoietin (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P01588-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01588-1, Asn-51, MOD:00160~GNO:G36191CD.


name: follicle-stimulating hormone receptor deaminated 1 (human)

description: A follicle-stimulating hormone receptor (human) that has been deaminated on the residue at the position equivalent to Asn-93 of the amino acid sequence represented by UniProtKB:P23945-1. Example: UniProtKB:P23945-1, Asn-93, MOD:00684.


immediate early response gene 2 protein

A protein that is a translation product of the human IER2 gene or a 1:1 ortholog thereof.


name: immediate early response gene 2 protein phosphorylated 1 (human)

description: An immediate early response gene 2 protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-183 of the amino acid sequence represented by UniProtKB:Q9BTL4. UniProtKB:Q9BTL4, Ser-183, MOD:00046.


name: TNF receptor-associated factor 5 isoform h3 (human)

description: A TNF receptor-associated factor 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00463-3.


An ultra-long-chain fatty acid that is (14Z,17Z,20Z,23Z,26Z)-dotriacontapentaenoic acid substituted at position 2 by a hydroxy group.


Delayed ossification of the trapezium

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


name: Childhood Acute Myeloid Leukemia with NUP98 Rearrangement

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


name: Acute myeloid leukemia with NUP98 rearrangement

description: Acute myeloid leukemia characterized by rearrangement of the NUP98 gene with various genes.


name: Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A

description: 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.


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

description: 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.)


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

description: 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.)


An unsaturated fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of (12Z,15Z,18Z,21Z)-3-oxotetracosatetraenoic acid.


name: Stage IIB Pancreatic Cancer AJCC v6 and v7

description: 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.)


name: Rho family-interacting cell polarization regulator 2 isoform h2 (human)

description: A Rho family-interacting cell polarization regulator 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y4F9-2.


CD81 antigen cysteinylated 2 (human)

A CD81 antigen (human) that has been cysteinylated on the residue at the position equivalent to Cys-156 of the amino acid sequence represented by UniProtKB:P60033. UniProtKB:P60033, Cys-156, MOD:00765.


rac-selisistat

A racemate comprising equimolar amounts of (R)- and (S)-selisistat. It is a potent sirtuin 1 (SIRT1) inhibitor (IC50 38 nM) and is 200-500-fold more selective for SIRT1 than for SIRT2 or SIRT3. The active isomer (EX-243) gives similar results and potency; the enantiomer (EX-242) is inactive.


Ras and Rab interactor 1

A protein that is a translation product of the human RIN1 gene or a 1:1 ortholog thereof.


name: Ras and Rab interactor 1 methylated 1 (human)

description: A Ras and Rab interactor 1 (human) that has been methylated on the residue at the position equivalent to Cys-550 of the amino acid sequence represented by UniProtKB:Q13671-1. Example: UniProtKB:Q13671-1, Cys-550, MOD:00660.


name: Ras and Rab interactor 1 isoform hRIN1 (human)

description: A Ras and Rab interactor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13671-1.


name: Ras and Rab interactor 1 isoform hRIN1-delta (human)

description: A Ras and Rab interactor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13671-2.


name: denticleless protein homolog cysteinylated 1 (human)

description: A denticleless protein homolog (human) that has been cysteinylated on the residue at the position equivalent to Cys-559 of the amino acid sequence represented by UniProtKB:Q9NZJ0-1. Example: UniProtKB:Q9NZJ0-1, Cys-559, MOD:00765.


X-linked adrenal hypoplasia congenita

description: 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

description: Developmental hypoplasia of the adrenal medulla.


bone morphogenetic protein 10

A bone morphogenetic protein that is a translation product of the human BMP10 gene or a 1:1 ortholog thereof.


name: bone morphogenetic protein 10, signal peptide removed form (human)

description: A bone morphogenetic protein 10 (human) that has had the signal peptide removed. UniProtKB:O95393, 22-424.


name: bone morphogenetic protein 10 isoform 1 (human)

description: A bone morphogenetic protein 10 isoform 1 that is encoded in the genome of human.


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

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


Anterior chamber cells grade 2+

description: 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.


name: Abnormal timing of dark-adapted dim flash electroretinogram


Retinal peau d'orange

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


Abnormal flash visual evoked potentials

description: 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.


Abnormal sclera morphology

description: An abnormality of the sclera.


Pattern dystrophy of the retina

description: 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

description: 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

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


macular holes

description: A hole in the macula of the retina.


cone-rod dystrophy

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


Inferior rectus muscle restriction

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


Abnormal lacrimal punctum morphology

description: An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.


Consecutive exotropia

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


Cone monochromacy

description: 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

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


lagophthalmos

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


ptosis, hereditary congenital, 1

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


Abnormal blink rate

description: A deviation from the normal frequency of blinking the eye.


Anterior chamber cyst

description: 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

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


Foveal degeneration

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


Basic constant esotropia

description: 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

description: 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

description: 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

description: A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. 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 hemorrhage.


Retinal arteriolar occlusion

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


Koeppe nodules

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


Abnormal vitreous humor morphology

description: Any structural anomaly of the vitreous body.


Megalopapilla

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


Optic disc pallor

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


Nasolacrimal sac obstruction

description: Blockage of the nasolacrimal sac.


Simulated distance exotropia

description: 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.


name: Central thinning of the outer nuclear layer of the retina

description: Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography.


name: Supernormal dark-adapted bright flash electroretinogram b-wave


Vitreous haze

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


Very low visual acuity

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


vitreous detachment

description: Detachment of the vitreous humor from the retina.


Scleral rupture

description: Breakage of the sclera.


Anterior cortical cataract

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


Retinal hole

description: A small break in the retina.


Diffuse nuclear cataract

description: Opacity of the entire lens nucleus.


Vertical supranuclear gaze palsy

description: 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

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


Central posterior corneal opacity

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


Lamellar cataract with riders

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


Medial flaring of the eyebrow

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


achromatopsia 2

description: 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.


name: Delayed canalization of nasolacrimal duct

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


name: autosomal recessive pericentral pigmentary retinopathy

description: 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.


chalazion

description: An eyelid cyst caused by the blockage of a meibomian gland.


Deuteranomaly

description: 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

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


Increased corneal thickness

description: A increased anteroposterior thickness of the cornea.


anisometropia

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


Ectopic fovea

description: 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

description: Congenital underdevelopment of the iris.


preretinal fibrosis

description: 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)


Focal necrotic optic nerve lesion

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


Abnormal foveal morphology

description: 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.


Retinal exudate

description: Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.


Dissociated vertical deviation

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


Opacification of the corneal stroma

description: Reduced transparency of the stroma of cornea.


name: Abnormality of inferior rectus extraocular muscle

description: An abnormality of an inferior rectus extraocular muscle.


internal hordeolum

description: A hordeolum that results from infection of a meibomian gland.


pinguecula

description: 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

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


name: Increased vertical cup-to-disc ratio - 0.6

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


Lentiglobus

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


Diffuse optic disc pallor

description: A pale yellow discoloration of the entire optic disc.


Corneal keratic precipitates

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


Microtropia

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


name: Abnormal amplitude of flash visual evoked potentials


Abnormal conjugate eye movement

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


name: Abnormal best corrected visual acuity test


Age-related cortical cataract

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


Medial rectus muscle restriction

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


Abnormal anterior chamber morphology

description: 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

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


Deuteranopia

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


alternating esotropia

description: Esotropia in which either eye may be used for fixation.


Foveal hyperpigmentation

description: Increased amount of pigmentation in the fovea centralis.


Double eyebrow

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


Oscillopsia

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


Non-accomodative esotropia

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


Vascular remnant arising from the disk

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


Subretinal fluid

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


Sunflower cataract

description: Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.


name: Congenital stationary night blindness with normal fundus


Cyclodeviation

description: 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

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


name: Congenital hypertrophy of retinal pigment epithelium

description: Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.


name: Abnormal amplitude of pattern reversal visual evoked potentials


Curly eyelashes

description: Abnormally curly or curved eyelashes.


Myopic astigmatism

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


Tapetal-like fundal reflex

description: 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.


Abnormality of the palpebral fissures

description: An anomaly of the space between the medial and lateral canthi of the two open eyelids.


Decreased tear drainage

description: 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

description: 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

description: 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

description: 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.


Abnormal lacrimal sac morphology

description: An abnormality of a lacrimal sac.


Retinopathy of prematurity prethreshold

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


name: Intraretinal hyporeflective spaces on macular OCT


Peripheral cystoid retinal degeneration

description: 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

description: Paralysis of the iris and ciliary apparatus.


name: Grouped congenital hypertrophy of retinal pigment epithelium


occult macular dystrophy

description: 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 severely attenuated focal macular and multifocal electroretinograms.


congenital primary aphakia

description: 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.


Multiple eyelid margin cysts

description: Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids.


Impaired ocular abduction

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


Increased basal tear production

description: 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

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


Conjunctival hamartoma

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


name: Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Conjunctival cicatrization

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


Choroidal vascular hyperpermeability

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


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


Cyclophoria

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


Brown pigmentation of the conjunctiva

description: Deposition of brown pigmentation in the conjunctiva.


True distance exotropia

description: 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

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


name: Abnormal amplitude of light-adapted flicker electroretinogram


Limited horizontal extraocular movement

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


name: Abnormal fundus autofluorescence imaging

description: 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

description: An abnormal bluish coloration of the sclera.


Phthisis bulbi

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


Conjunctival amyloidosis

description: A form of amyloidosis that affects the conjunctiva.


name: Abnormality of lateral rectus extra-ocular muscle

description: An abnormality of a lateral rectus extra-ocular muscle.


name: Abnormal medial rectus muscle physiology

description: 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

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


Lenticular astigmatism

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


Reduced contrast sensitivity

description: 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.


Divergence nystagmus

description: A condition in which both eyes beat outward simultaneously.


Gaze-evoked nystagmus

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


jaw-winking syndrome

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


Recurrent corneal erosions

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


Lens luxation

description: Complete dislocation of the lens of the eye.


name: Foveal photoreceptor outer segment loss on macular OCT


Visual fixation instability

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


Long palpebral fissure

description: Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.


Vitreous inflammatory cells

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


Abnormality of globe location

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


name: Abnormal Humphrey SITA 30-2 perimetry test


Flame-shaped retinal hemorrhage

description: 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

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


Saccadic intrusion

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


Paravenous chorioretinal atrophy

description: Chorioretinal atrophy along the retinal veins.


Macular crystals

description: Crystalline deposits in the macula.


Sudden loss of visual acuity

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


Dense posterior cortical cataract

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


name: Ultra-low vision with no light perception

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


Blue irides

description: A markedly blue coloration of the iris.


Inferior rectus muscle overaction

description: 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.


Superior rectus atrophy

description: Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.


Vitreomacular traction

description: 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.


name: Increased vertical cup-to-disc ratio - 0.9

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


euryblepharon

description: 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

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


name: Abnormality of pattern onset/offset visual evoked potentials


name: Photoreceptor outer segment loss on macular OCT


name: Abnormal timing of pattern onset/offset visual evoked potentials


Intraretinal hemorrhage

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


Retinopathy of prematurity stage 5b

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


Exophoria

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


Abnormal line of Schwalbe morphology

description: An abnormality of the line of Schwalbe.


Macular hemorrhage

description: Bleeding occurring within the macula lutea of the retina.


name: Compensatory head tilt to the right shoulder

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


Abnormal lacrimal bone morphology

description: An abnormality of the lacrimal bone.


Abnormal Esterman grid perimetry test

description: 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

description: 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.


Hooded upper eyelid

description: Upper eyelid partly covered by skin when eyes are open.


name: familial congenital nasolacrimal duct obstruction

description: No identifiable superior and/or inferior lacrimal punctum.


name: Abnormal dark-adapted bright flash electroretinogram


Abnormal eye physiology

description: A functional anomaly of the eye.


Abnormality of vision

description: Abnormality of eyesight (visual perception).


Supranuclear gaze palsy

description: 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

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


name: Abnormal amplitude of dark-adapted dim flash electroretinogram


name: Abnormal inferior rectus muscle physiology

description: 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

description: 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

description: Decreased strength of the medial rectus muscle.


Peripheral retinal neovascularization

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


Heterotropia

description: Manifest deviation of the visual axes not controlled by fusion.


name: Very severe constriction of peripheral visual field

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


Hypoplasia of the lacrimal punctum

description: Underdevelopment of the lacrimal puncta.


Asymmetry of intraocular pressure

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


Abnormality of refraction

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


Anterior chamber cells grade 0

description: 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

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


Abnormal lacrimal duct morphology

description: An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.


Microtropia with identity

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


Convergence-retraction nystagmus

description: 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.