transitional cell papilloma

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


thymoma type A

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

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.


skin carcinoma in situ

description: A in situ carcinoma that involves the zone of skin.


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.


mucoepidermoid carcinoma

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


sebaceous breast carcinoma

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.


lymph node carcinoma

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


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.


A lithostathine-1-beta that is encoded in the genome of human.


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.


name: YCIA_ECOLI Acyl-CoA thioester hydrolase YciA (sprot)

description: An acyl-CoA thioester hydrolase YciA that is encoded in the genome of Escherichia coli K-12.


acyl-CoA thioester hydrolase YciA

A protein that is a translation product of the Escherichia coli K-12 yciA gene or a 1:1 ortholog thereof.


name: MED17_CANAL Mediator of RNA polymerase II transcription subunit 17 (sprot)

description: A protein that is a translation product of the SRB4 gene in Candida albicans SC5314.


prunetin 4'-O-glucoside

A glycosyloxyisoflavone that is the 4'-O-beta-D-glucoside of prunetin.


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.


A methoxyisoflavone that is isoflavone substituted by a methoxy group at position 5, a hydroxy group at position 7 and methyl groups at positions 6 and 8. It has been isolated from the buds of Cleistocalyx operculatus and has been shown to exhibit inhibitory effects on the viral neuraminidases from two influenza viral strains,H1N1 and H9N2.


vestitone

A hydroxyisoflavanone that is isoflavanone substituted by hydroxy groups at positions 7 and 2' and a methoxy group at position 4'.


daidzein monosulfate

An aryl sulfate obtained by sulfation of one of the phenolic hydroxy groups of daidzein.


dalpatein

An methoxyisoflavone having methoxy substituents at the 6- and 2'-positions, a hydroxy group at position 7 and a methylenedioxy moiety at the 4'- and 5'-positions.


WIGHTEONE

A member of the class of  7-hydroxyisoflavones that is isoflavone substituted by hydroxy groups at positions 5, 7 and 4' and a prenyl group at position 6. It has been isolated from Ficus mucuso.


kievitone

A hydroxyisoflavanone that is isoflavanone with hydroxy substituents at positions 5, 7, 2' and 4' and a prenyl group at position 8.


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


A hydroxyisoflavanone bearing three hydroxy substituents at positions 2, 5 and 7 in addition to a methoxy substituent at position 4'.


CASTANIN

A  4'-methoxyisoflavone that is isoflavone substituted by methoxy groups at positions 6 and 4' and a hydroxy group at position 7.


PIERREIONE A

A  methoxyisoflavone that is isoflavone substituted by methoxy groups at positions 5 and 3', a 2R,3-dihydroxy-3-methylbutoxyl group at position 4' and a dimethylpyran ring fused across positions 6 and 7. Isolated from Antheroporum pierrei, it exhibits antineoplastic activity.


5-deoxyglyasperin F

A hydroxyisoflavanone  that is 2,3-dihydro-2'H,4H-3,8'-bichromen-4-one substituted by hydroxy groups at positions 5' and 7 and geminal methyl groups at position 2'. Isolated from the roots of Erythrina lysistemon, it exhibits anti-HIV activity.


malonylglycitin

A glycosyloxyisoflavone that is glycitin substituted by a  malonyl group at position 6''.


ISOFLAVANONE

Isoflavone in which the double bond between positions 2 and 3 has been reduced to a single bond.


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.


CORYLIN

A member of the class of 7-hydroxyisoflavones that is isoflavone substituted by hydroxy groups at positions 5, 7 and 4' and a prenyl group at position 3'. It has been isolated from Ficus mucuso.


MUCRONULATOL

A methoxyisoflavan that is (S)-isoflavan substituted by methoxy groups at positions 2' and 4' and hydroxy groups at positions 7 and 3' respectively.


(+)-vestitol

The S-enantiomer of vestitol.


(+/-)-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.


HISPAGLABRIDIN A

A member of the class of  hydroxyisoflavans that is (R)-isoflavan substituted by hydroxy groups at positions 2' and 4' , a  3-methylbut-2-en-1-yl group at position 3' and a 2,2-dimethyl-2H-pyran group across positions 7 and 8 respectively.


A member of the class of  7-hydroxyisoflavones that is genistein substituted by prenyl groups at positions 6 and 8. It has been isolated from Derris scandens and Glycyrrhiza uralensis.


A member of the class of hydroxyisoflavans that is isoflavan-4,7-diol which is substituted by a hydroxy group at the 2' position and by a methylenedioxy group at the 4'-5' positions (the R,R stereoisomer).


PIERREIONE D

A methoxyisoflavone that is isoflavone substituted by a methoxy group at position 3', a prenyloxy group at position 4' and a dimethylpyran ring fused across positions 6 and 7. Isolated from Antheroporum pierrei, it exhibits antineoplastic activity.


licoricone

A  hydroxyisoflavone which is isoflavone substituted by hydroxy groups at positions 7 and 6', methoxy groups at positions 2' and 4' and a prenyl group at position 3'. It has been isolated from Glycyrrhiza uralensis.


MUCUSISOFLAVONE B

A hydroxyisoflavone, isoflavone dimer obtained from Ficus mucuso.


torvanol A hydrogen sulfate

A methoxyisoflavan that is isoflavan substituted by a hydroxy group at position 2', methoxy groups at positions 6 and 3', a 2-carboxyethenyl group at position 5' and a sulfoxy group at position 4.


puerarin xyloside

A hydroxyisoflavone that is puerarin substituted by an alpha-D-xylopyranosyl residue at position 7 via a glycosidic linkage.


(-)-sativan

A  methoxyisoflavan that is (R)-isoflavan substituted by methoxy groups at positions 2' and 4' and a hydroxy group at position 7.


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.


A member of the class of 7-hydroxyisoflavones that is 7,4'-dihydroxyisoflavone substituted by a methoxy group at position 3'. It is isolated from the heart woods of Maackia amurensis subsp buergeri and Dalbergia louveli and exhibits antiplasmodial ativity.


methoxyisoflavan

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


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 hydroxyisoflavone that is isoflavone substituted by a hydroxy group at position 7 and methoxy groups at the 2', 4' and 5' positions.


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 7-hydroxyisoflavones that is 7-hydroxyisoflavone with additional hydroxy groups at positions 5, 3' and 4' and a prenyl group at position 2'. Isolated from the roots of Psorothamnus arborescens, it exhibits antileishmanial activity.


compounds having a coumarin skeleton and having an aryl structure at the 3-position


A 7-hydroxyisoflavone that is daidzein  substituted by a hydroxy group at position 3'.


name: acetic acid (4-oxo-3-phenyl-1-benzopyran-7-yl) ester


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.


UNCINANONE A

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone substituted by additional hydroxy groups at positions 5, 2' and 4' and a prenyl group at position 6.


GLYASPERIN D

A member of the class of  hydroxyisoflavans that is  (R)-isoflavan substituted by hydroxy groups at positions 2' and 4', methoxy groups at positions 5 and 7 and a prenyl group at position 6. It has been isolated from Glycyrrhiza uralensis.


A hydroxyisoflavone that is daidzein bearing an additional hydroxy substituent at position 6.


talosin A

A  glycosyloxyisoflavone that is  genistein attached to a alpha-L-6-deoxy-talopyranosyl residue at position 7 via a glycosidic linkage. Isolated from Kitasatospora kifunensis, it exhibits antifungal activity.


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.


2'-hydroxybiochanin A

A methoxyisoflavone in which the methoxy group is located at position 4' together with three additional hydroxy substituents at positions 2' 5 and 7.


Any hydroxyisoflavone which has a hydroxy group at the 2-position of the phenyl substituent.


piscerythramine

A hydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 5, 7 and 3', prenyl groups at positions 2' and 6', a methoxy group at position 5' and an amino group at position 4'.


sophoraisoflavanone A

A hydroxyisoflavanone that is isoflavanone substituted by hydroxy groups at positions 5, 7 and 4', a methoxy substituent at position 2' and a prenyl group at position 3'.


malonyldaidzin

A glycosyloxyisoflavone that is  daidzein substituted by a 6-O-(carboxyacetyl)-beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage.


betavulgarin

A hydroxyisoflavone that is isoflavone substituted by a hydroxy group at position 2', a methoxy group at position 5 and a methylenedioxy group across positions 6 and 7 respectively.


genistein 8-C-glucoside

A C-glycosyl compound that is  genistein substituted by a beta-D-glucopyranosyl residue at position 8 via a C-glucosidic linkage.


A hydroxyisoflavanone that is 2,3-dihydrogenistein with a hydroxy substituent at position 2.


A 7-hydroxyisoflavone that is daidzein in which the aromatic hydrogen at position 8 has been replaced by a prenyl group.


A member of the class of hydroxyisoflavans that is isoflavan-4-ol which is substituted at positions 7, 2' and 4' by hydroxy groups (the 3R,4R stereoisomer).


name: acetic acid [5-acetyloxy-3-(4-methoxyphenyl)-4-oxo-1-benzopyran-7-yl] ester


A glycosyloxyisoflavone that is the 2'',4'',6''-O-triacetyl- derivative of glycitin.


Any member of the class of hydroxyisoflavans that has a hydroxy substituent located at position 2 and 3R-stereochemistry.


A member of the class of 7-hydroxyisoflavones that is isoflavone substituted by hydroxy groups at positions 5, 7 and 2' and methyl group at positions 6 and 8. It has been isolated from Pisonia aculeata.


PISONIANONE

A methoxyisoflavone that is isoflavone substituted by a methoxy group at position 6, a methyl group at position 8 and hydroxy groups at positions 5, 7 and 2'. It has been isolated from Pisonia aculeata.


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


formononetin 7-O-rutinoside

A 4'-methoxyisoflavone that is the 7-O-rutinosyl derivative of formononetin.


A hydroxyisoflavanone that is isoflavanone bearing  hydroxy groups at the 2 and 7  positions, and a methoxy group at the 4' position.


semilicoisoflavone B

A member of the class of 7-hydroxyisoflavones that is 2',2'-dimethyl-2'H,4H-3,6'-bichromen-4-one substituted by hydroxy groups at positions 5, 7 and 8'. It has been isolated from Glycyrrhiza uralensis.


genistin 7-O-gentiobioside

A glycosyloxyisoflavone that is genistein substituted by a 6-O-beta-D-glucopyranosyl-beta-D-glucopyranoside group at position 7.


MUCUSISOFLAVONE A

A hydroxyisoflavone, isoflavone dimer obtained from Ficus mucuso.


DIHYDROBIOCHANIN A

A hydroxyisoflavanone that is the 2,3-dihydro derivative of biochanin A.


LESPEFLORIN D1

A hydroxyisoflavanone that is isoflavanone substituted by hydroxy groups at positions 7 and 4', a methoxy group at position 2' and prenyl groups at positions 8 and 3'. Isolated from the roots of Lespedeza floribunda, it acts as a melanin synthesis inhibitor.


Any hydroxyisoflavone which has a hydroxy group at the 4-position of the phenyl substituent.


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.


talosin B

A  glycosyloxyisoflavone that is  genistein attached to alpha-L-6-deoxy-talopyranosyl residues at positions 7 and 4' respectively. Isolated from Kitasatospora kifunensis, it exhibits antifungal activity.


A hydroxyisoflavanone that is 2,3-dihydroneobavaisoflavone with an additional hydroxy group at position 2'. Isolated from Erythrina lysistemon, it exhibits anti-HIV activity.


lotisoflavan

A hydroxyisoflavan that is isoflavan substituted by hydroxy groups at positions 2' and 4' and methoxy groups at positions 5 and 7 respectively.


A hydroxyisoflavanones that is isoflavanone bearing hydroxy groups at the 2, 7 and 4' positions, with R and S configurations at C-2 and C-3 respectively.


A 2,7-dihydroxy-4'-methoxyisoflavanone in which positions 2 and 3 have R- and S-configuration respectively.


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.


name: 4-methyl-2-[[(2-methylpropan-2-yl)oxy-oxomethyl]amino]pentanoic acid [3-(4-nitrophenyl)-4-oxo-1-benzopyran-7-yl] ester


(S)-isoflavan

The (S)-enantiomer of isoflavan.


A methoxyisoflavone that is isoflavone substituted by a methoxy group at position 7.


A  glycosyloxyisoflavone that is irilone attached to a  6-O-beta-D-glucopyranosyl-beta-D-glucopyranosyl moiety at position 4' via a glycosidic linkage. Isolated from Iris pseudopumila, it exhibits antioxidant activity.


A glycosyloxyisoflavone that is  formononetin attached to a 6-O-(carboxyacetyl)-beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage.


A hydroxyisoflavanone that is 2,3-dihydrodaidzein with an additonal hydroxy substituent at position 2'.


A hydroxyisoflavanone that is isoflavanone with hydroxy substituents at positions 2, 7 and 4'.


A member of the class of 7-hydroxyisoflavones that is pseudobaptigenin  substituted by hydroxy group at position 5.


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.


PHASEOLLINISOFLAVAN

A member of the class of  hydroxyisoflavans that is (3R)-3,4-dihydro-2H,2'H-3,6'-bichromene substituted by two methyl groups at positions 2' and 2' and hydroxy groups at positions 5' and 7 respectively.


A methoxyisoflavan that is (S)-isoflavan substituted by methoxy groups at positions 6 and 3' and hydroxy groups at positions 4 and 4'. It has been isolated from Taxus yunnanensis and exhibits inhibitory activity against CYP3A4.


ONONIN

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


IRIGENIN

A hydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 5, 7 and 3' and methoxy groups at positions 6, 4' and 5' respectively.


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


erylatissin A

A member of the class of 7-hydroxyisoflavones in which isoflavone is substituted by hydroxy groups at the 7 and 3' positions, a methoxy group at the 4' position and a prenyl group at position 5'. Isolated from the stem wood of Erythrina latissima, it exhibits antimicrobial and radical scavenging activities.


A member of the class of 7-hydroxyisoflavones in which isoflavone is substituted by hydroxy groups at the 5, 7, and 3' positions, and by a methoxy group at the 4' position.


A hydroxyisoflavone that is luteone in which the hydroxy group at position 7 is replaced by a methoxy group.


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.


ferreirin

A hydroxyisoflavanone that is isoflavanone substituted by hydroxy groups at positions 5, 7 and 2' and a methoxy group at position 4' respectively.


A hydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 3' and 4'. It has been isolated from Penicillium purpurogenum.


A dihydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 7 and 4' and a 3-oxo-beta-D-glucopyranosyl residue at position 8 via a C-glycosidic linkage.


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.


licorisoflavan A

A member of the class of  hydroxyisoflavans that is the 7-O-methyl derivative of licoricidin. Isolated from Glycyrrhiza uralensis, it exhibits antibacterial activity.


hydroxyisoflavans

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


dihydrogenistein

A hydroxyisoflavanone comprising isoflavanone carrying three hydroxy substituents at positions 5, 7 and 4'.


CAJANOL

A  hydroxyisoflavanone that is (3S)-isoflavanone substituted by hydroxy groups at positions 5 and 4' and methoxy groups at positions 7 and 2' respectively. It has been isolated from Crotalaria lachnophora.


dihydrodaidzein

A hydroxyisoflavanone that is isoflavanone carrying two hydroxy substituents located at positions 4' and 7.


A hydroxyisoflavone that is daidzein bearing an additional hydroxy substituent at position 2'.


name: Isoflavone base + 1o, 1meo, o-hex+c7h12no


Any member of the class of hydroxyisoflavans that has two hydroxy substituents located at positions 2' and 4 as well as 3R,4R-stereochemistry.


ISOFORMONENTIN

A methoxyisoflavone that is isoflavone substituted at positions 4' and 7 by hydroxy and methoxy groups respectively.


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


licoisoflavone A

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone substituted by additional hydroxy groups at positions 5, 2' and 4' and a prenyl group at position 3'.


PIERREIONE C

A methoxyisoflavone that is isoflavone substituted by methoxy groups at positions 5 and 3', a prenyloxy group at position 4' and a dimethylpyran ring fused across positions 6 and 7. Isolated from Antheroporum pierrei, it exhibits antineoplastic activity.


ISOFLAVONE

A simplest member of the class of isoflavones  that is 4H-chromen-4-one in which the hydrogen at position 3 is replaced by a phenyl group.


A methoxyisoflavone that is isoflavone substituted by methoxy groups at positions 5, 6, 7 and 8 and methylenedioxy group across positions 3' and 4'.


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


A pseudobaptigenin that is pseudobaptigenin substituted by a hydroxy groups at position 2'.


oxoisoflavone

A member of the class of isoflavones with at least one oxo substituent.


(R)-isoflavan

The (R)-enantiomer of isoflavan.


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


dihydrolicoisoflavone A

A member of the class of 7-hydroxyisoflavones that is the 2,3-dihydro derivative of licoisoflavone A. It has been isolated from Glycyrrhiza uralensis.


ALLOLICOISOFLAVONE A

A  hydroxyisoflavone that is isoflavanone substituted by hydroxy groups at positions 5, 7, 2' and 4' and a prenyl group at position 5. It has been isolated from Glycyrrhiza uralensis.


A  methoxyisoflavan that is isoflavan carrying a double bond across positions 3 and 4, methoxy groups at positions 7 and 4' and methyl groups at positions 2, 2 and 4 respectively.


2'-unsubstituted isoflavones

An isoflavone that has an H at position 2'


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.


A a methoxyisoflavone that is a 7-methoxyisoflavone compound arising from enzyme-mediated epoxidation/cyclisation of 7-O-methylluteone.


A hydroxyisoflavone that is orobol in which the hydroxy group at position 3' has been replaced by a methoxy group. It has been isolated from Crotalaria lachnophora.


PIERREIONE B

A methoxyisoflavone that is isoflavone substituted by a methoxy group at position 3', a 2R,3-dihydroxy-3-methylbutoxyl group at position 4' and a dimethylpyran ring fused across positions 6 and 7. Isolated from Antheroporum pierrei, it exhibits antineoplastic activity.


isoflavans

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


isoderrone

A  hydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 5 and 7 and a 6,6-dimethyl-3,6-dihydro-2H-pyran across positions 3' and 4' respectively. It has been isolated from Ficus mucuso.


NEOBAVAISOFLAVONE

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone with an additonal hydroxy group at position 4' and a prenyl group at position 3'. Isolated from seeds of Psoralea corylifolia, it exhibits inhibitory activity against DNA polymerase and platelet aggregation.


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.


GLYASPERIN C

A methoxyisoflavan that is (R)-isoflavan substituted by a methoxy group at position 5, hydroxy groups at positions 7, 2' and 4' and a prenyl group at position 6. It has been isolated from Glycyrrhiza uralensis.


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


The (3S)-enantiomer of isoflavanone.


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 methoxyisoflavan that is the 2'-O-methyl derivative of (-)-phaseollinisoflavan.


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.


BOWDICHIONE

A hydroxyisoflavone with a quinone structure in ring B. Isolated from Dalbergia parviflora, it exhibits antineoplastic and anti-inflammatory activities.


PSEUDOBAPTOGENIN

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone and in which the phenyl group at position 3 is replaced by a 1,3-benzodioxol-5-yl group.


glyasperin F

A member of the class of  7-hydroxyisoflavones that consists of 2,3,3',4'-tetrahydro-2'H,4H-3,8'-bichromen-4-one substituted by hydroxy groups at positions 5, 5' and 7 and methyl groups at positions 2' and 2'. It has been isolated from Glycyrrhiza uralensis.


The simplest member of the class of 4'methoxyisoflavones that is isoflavone substituted by a methoxy group at position 4'.


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.


A hydroxyisoflavanone that is isoflavanone substituted by hydroxy groups at positions 2, 6, 7 and 4' respectively.


A member of the class of 4'-methoxyisoflavones that is 4'-methoxyisoflavone that is also substituted by methoxy groups at positions 5, 6, 7.


kwakhurin

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone with additional hydroxy groups at positions 4' and 6', a methoxy group at position 3' and a prenyl group at position 2'. A characteristic estrogen-like isoflavonoid produced in Pueraria candollei var. mirifica (Leguminosae), which has long been used as a folk medicine for rejuvenation in Thailand.


hydroxyisoflavone

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


(-)-vestitol

A methoxyisoflavan that is  (R)-isoflavan substituted by a methoxy group at position 4' and hydroxy groups at positions 7 and 2' respectively.


XENOGNOSIN B

A member of the class of 4'-methoxyisoflavones that is formononetin with a hydroxy group at the 2'position.


erylatissin B

A member of the class of 7-hydroxyisoflavones that is isoflavone with hydroxy groups at C-7 and C-3' positions and a 2,2-dimethylpyran ring fused to ring B across positions C-4' and C-5'. Isolated from the stem wood of Erythrina latissima, it exhibits antimicrobial and radical scavenging activities.


isoflavan

The simplest member of the class of isoflavans that is chromane substituted by a phenyl substituent at position 3.


dalnigrein

A member of the class of 7-hydroxyisoflavones that is isoflavone having four methoxy substituents at the 2'-, 4'-, 5'- and 6-positions and a hydroxy group at position 7.


A hydroxyisoflavone that is genistein substituted by an additional hydroxy group at position 2'. It has been isolated from Crotalaria lachnophora.


glycitein 4'-O-glucuronide

A glycosyloxyisoflavone that is the glucuronide-conjugated form of the phytoestrogen glycitein.


A  methoxyisoflavone that is tectorigenin in which the hydroxy group at position 7 has been replaced by a methoxy group. It has been isolated from Crotalaria lachnophora.


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


OROBOL

A member of the class of  7-hydroxyisoflavones which consists of isoflavone substituted by hydroxy groups at positions 5, 7, 3' and 4'. It has been isolated from the mycelia of Cordyceps sinensis.


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.


LORI_MOUSE Loricrin (sprot)

A loricrin that is encoded in the genome of mouse.


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

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

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.


TMOD2_HUMAN Tropomodulin-2 (sprot)

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


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.


name: GPAN1_DROME G patch domain and ankyrin repeat-containing protein 1 homolog (sprot)

description: A G patch domain and ankyrin repeat-containing protein 1 that is encoded in the genome of fruit fly.


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.


undecylprodigiosin

A member of the class of tripyrroles that is 1H-pyrrole substituted by (4'-methoxy-1H,5'H-[2,2'-bipyrrol]-5'-ylidene)methyl and undecyl groups at positions 2 and 5, respectively. It is a pigment produced by Stveptomyces coelicolor.


An (omega-1)-hydroxy fatty acid ascaroside obtained by formal condensation of the (omega-1)-hydroxy group of (3R,22R)-3,22-dihydroxytricosanoic acid with ascarylopyranose (the alpha anomer). It is a metabolite of the nematode Caenorhabditis elegans.


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: CEACAM1a-2S, signal peptide removed N-glycosylasparagine form (mouse)

description: A CEACAM1a-2S, signal peptide removed form (mouse) that includes at least one N-glycosylasparagine. UniProtKB:P31809-4, 35-278, MOD:00160.


CEACAM1a-2S (mouse)

A carcinoembryonic antigen-related cell adhesion molecule 1 sequence variant CEACAM1a (mouse) 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:Q3LFS8. This form contains the two copies of the Ig domain and is the version with shorter cytoplasmic tail.


name: CEACAM1a-2S, signal peptide removed form (mouse)

description: A CEACAM1a-2S (mouse) that has had the signal peptide removed. UniProtKB:P31809-4, 35-278.


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.


name: TAD2_SCHPO tRNA-specific adenosine deaminase subunit tad2 (sprot)

description: A tRNA-specific adenosine deaminase 2 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


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 1

description: A tRNA-specific adenosine deaminase 2 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:Q7Z6V5-1 or a 1:1 ortholog thereof.


name: ADAT2_DANRE tRNA-specific adenosine deaminase 2 (sprot)

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


name: tRNA-specific adenosine deaminase 2 isoform 2 (zebrafish)

description: A tRNA-specific adenosine deaminase 2 (zebrafish) 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:Q5RIV4-2.


name: TAD2_YEAST tRNA-specific adenosine deaminase subunit TAD2 (sprot)

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


name: ADAT2_MOUSE tRNA-specific adenosine deaminase 2 (sprot)

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


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

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


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: ADAT2_HUMAN tRNA-specific adenosine deaminase 2 (sprot)

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


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: tRNA-specific adenosine deaminase 2 isoform 1 (zebrafish)

description: A tRNA-specific adenosine deaminase 2 (zebrafish) 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:Q5RIV4-1.


name: TAD2_ARATH tRNA-specific adenosine deaminase TAD2 (sprot)

description: A tRNA-specific adenosine deaminase 2 that is encoded in the genome of Arabidopsis thaliana.


name: FIR1_YEAST Factor interacting with REF2 (sprot)

description: A protein that is a translation product of the FIR1 gene in yeast.


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.


name: LCKB2_ARATH Sphingoid long-chain bases kinase 2, mitochondrial (sprot)

description: A protein that is a translation product of the LCKB2 gene in Arabidopsis thaliana.


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: zinc finger protein 880 isoform h2 (human)

description: A zinc finger protein 880 (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:Q6PDB4-2.


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.


name: MOT13_MOUSE Monocarboxylate transporter 13 (sprot)

description: A monocarboxylate transporter 13 that is encoded in the genome of mouse.


name: monocarboxylate transporter 13 isoform 1 (mouse)

description: A monocarboxylate transporter 13 isoform 1 that is encoded in the genome of mouse.


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.


septooptic dysplasia

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


Hypoplasia of the fovea

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.


name: GR64C_DROME Gustatory receptor for sugar taste 64c (sprot)

description: A protein that is a translation product of the Gr64c gene in fruit fly.


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.


DTML1_DICDI Dictomallein-1 (sprot)

A protein that is a translation product of the dtmlA gene in Dictyostelium discoideum.


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.


isoscutellarein

A tetrahydroxyflavone that is apigenin with an extra hydroxy group at position 8.


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.


GLPC_HUMAN Glycophorin-C (sprot)

A glycophorin-C that is encoded in the genome of human.


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.


Adult Acute Eosinophilic Leukemia

description: An acute eosinophilic leukemia occurring in adults.


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.


name: LSG1_RAT Large subunit GTPase 1 homolog (sprot)

description: A large subunit GTPase 1 that is encoded in the genome of rat.


name: GSTM4_RAT Glutathione S-transferase Mu 4 (sprot)

description: A glutathione S-transferase mu 4 that is encoded in the genome of rat.


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.


Hypocholesterolemia

description: An decreased concentration of cholesterol in the blood.


hypobetalipoproteinemia

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


name: Decreased VLDL cholesterol concentration

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


name: GGA3_RAT ADP-ribosylation factor-binding protein GGA3 (sprot)

description: An ADP-ribosylation factor-binding protein GGA3 that is encoded in the genome of rat.


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: immunoglobulin superfamily member 3 isoform 1

description: An immunoglobulin superfamily member 3 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:O75054-1 or a 1:1 ortholog thereof.


name: immunoglobulin superfamily member 3 isoform 1 (mouse)

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


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.


name: OTU6B_MOUSE Deubiquitinase OTUD6B (sprot)

description: A deubiquitinase OTUD6B that is encoded in the genome of mouse.


name: epidermal retinol dehydrogenase 2 isoform 1 (mouse)

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


epidermal retinol dehydrogenase 2

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


name: RDHE2_MOUSE Epidermal retinol dehydrogenase 2 (sprot)

description: An epidermal retinol dehydrogenase 2 that is encoded in the genome of mouse.


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: RDHE2_HUMAN Epidermal retinol dehydrogenase 2 (sprot)

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


name: epidermal retinol dehydrogenase 2 isoform 1

description: An epidermal retinol dehydrogenase 2 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:Q8N3Y7-1 or a 1:1 ortholog thereof.


name: YBPE_SCHPO Uncharacterized oxidoreductase C16H5.14c (sprot)

description: An epidermal retinol dehydrogenase 2 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: metastasis-associated protein MTA1 isoform 1 (mouse)

description: A metastasis-associated protein MTA1 isoform 1 that is encoded in the genome of mouse.


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.


Q8SZY9_DROME LD47413p (trembl)

A LAS1-like protein that is encoded in the genome of fruit fly.


name: LAS1L_HUMAN Ribosomal biogenesis protein LAS1L (sprot)

description: A LAS1-like protein that is encoded in the genome of human.


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.


Q75JW2_DICDI Las1-like protein (trembl)

A LAS1-like protein that is encoded in the genome of Dictyostelium discoideum.


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 isoform m2 (mouse)

description: A ribosomal biogenesis protein LAS1L (mouse) 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:A2BE28-2.


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 isoform m1 (mouse)

description: A ribosomal biogenesis protein LAS1L (mouse) 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:A2BE28-1.


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: LAS1L_MOUSE Ribosomal biogenesis protein LAS1L (sprot)

description: A LAS1-like protein that is encoded in the genome of mouse.


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: PPIB_ECOLI Peptidyl-prolyl cis-trans isomerase B (sprot)

description: A bacterial-type peptidyl-prolyl cis-trans isomerase B that is encoded in the genome of Escherichia coli K-12.


name: ubiquitin thioesterase otulin isoform 1 (mouse)

description: A ubiquitin thioesterase otulin isoform 1 that is encoded in the genome of mouse.


name: zinc finger protein neuro-d4 isoform r1 (rat)

description: A zinc finger protein neuro-d4 (rat) 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:P56163-1.


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: P2X purinoceptor 7 N-glycosylated 2 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:Q64663-1, Asn-187, MOD:00160~GNO:G41247ZX.


P2RX7_RAT P2X purinoceptor 7 (sprot)

A P2X purinoceptor 7 that is encoded in the genome of rat.


name: P2X purinoceptor 7 N-glycosylated 1 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:Q64663-1, Asn-187, MOD:00160~GNO:G31852PQ.


name: P2X purinoceptor 7 N-glycosylated 3 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:Q64663-1, Asn-187, MOD:00160~GNO:G62765YT.


name: P2X purinoceptor 7 N-glycosylated 6 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-213 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan structure is represented by GlyTouCan:G09775CH. Example: UniProtKB:Q64663-1, Asn-213, MOD:00160~GNO:G09775CH.


name: P2X purinoceptor 7 N-glycosylated 7 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-213 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:Q64663-1, Asn-213, MOD:00160~GNO:G31852PQ.


P2X purinoceptor 7 isoform 1 (rat)

A P2X purinoceptor 7 isoform 1 that is encoded in the genome of rat.


name: P2X purinoceptor 7 N-glycosylated 8 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-213 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan structure is represented by GlyTouCan:G37135JQ. Example: UniProtKB:Q64663-1, Asn-213, MOD:00160~GNO:G37135JQ.


name: P2X purinoceptor 7 N-glycosylated 4 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan composition is represented by GlyTouCan:G80920RR. Example: UniProtKB:Q64663-1, Asn-187, MOD:00160~GNO:G80920RR.


name: P2X purinoceptor 7 N-glycosylated 5 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-213 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:Q64663-1, Asn-213, MOD:00160~GNO:G02815KT.


name: P2X purinoceptor 7 N-glycosylated 9 (rat)

description: A P2X purinoceptor 7 (rat) that has been N-glycosylated at the residue equivalent to Asn-213 of the amino acid sequence represented by UniProtKB:Q64663-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:Q64663-1, Asn-213, MOD:00160~GNO:G55220VL.


name: THA11_HUMAN THAP domain-containing protein 11 (sprot)

description: A THAP domain-containing protein 11 that is encoded in the genome of human.


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: UQCC3_RAT Ubiquinol-cytochrome-c reductase complex assembly factor 3 (sprot)

description: A ubiquinol-cytochrome-c reductase complex assembly factor 3 that is encoded in the genome of rat.


name: neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform m1 (mouse)

description: A neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 (mouse) 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:Q8BM65-1.


name: skeletal dysplasia with delayed epiphyseal and carpal bone ossification


name: inhibitor of growth protein 4 isoform m4 (mouse)

description: An inhibitor of growth protein 4 (mouse) 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:Q8C0D7-4.


name: O10AC_HUMAN Olfactory receptor 10AC1 (sprot)

description: An olfactory receptor 10AC1 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: ATP-dependent RNA helicase DHX30 isoform 2 (mouse)

description: An ATP-dependent RNA helicase DHX30 isoform 1 that is encoded in the genome of mouse.


name: ATP-dependent RNA helicase DHX30 isoform 1

description: An ATP-dependent RNA helicase DHX30 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:Q7L2E3-1 or a 1:1 ortholog thereof.


name: ATP-dependent RNA helicase DHX30 isoform 1 (human)

description: An ATP-dependent RNA helicase DHX30 isoform 1 that is encoded in the genome of human.


DNA polymerase lambda

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


name: DPOLL_HUMAN DNA polymerase lambda (sprot)

description: A DNA polymerase lambda that is encoded in the genome of human.


DNA polymerase lambda isoform 1 (rat)

A DNA polymerase lambda isoform 1 that is encoded in the genome of rat.


name: DNA polymerase lambda methylated 1 (human)

description: A DNA polymerase lambda (human) that has been methylated on the residue at the position equivalent to Cys-300 of the amino acid sequence represented by UniProtKB:Q9UGP5-1. Example: UniProtKB:Q9UGP5-1, Cys-300, MOD:00660.


name: DNA polymerase lambda isoform h1 (human)

description: A DNA polymerase lambda (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:Q9UGP5-1.


DNA polymerase lambda isoform 1 (mouse)

A DNA polymerase lambda isoform 1 that is encoded in the genome of mouse.


name: DNA polymerase lambda isoform h2 (human)

description: A DNA polymerase lambda (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:Q9UGP5-2.


name: DPOLL_MOUSE DNA polymerase lambda (sprot)

description: A DNA polymerase lambda that is encoded in the genome of mouse.


DNA polymerase lambda isoform 1

A DNA polymerase lambda 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:Q9QXE2-1 or a 1:1 ortholog thereof.


DPOLL_RAT DNA polymerase lambda (sprot)

A DNA polymerase lambda that is encoded in the genome of rat.


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.


protein vein isoform 2 (fruit fly)

A protein vein (fruit fly) 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:Q94918-2.


name: vacuolar ATPase assembly integral membrane protein Vma21 isoform 1 (mouse)

description: A vacuolar ATPase assembly integral membrane protein VMA21 isoform 1 that is encoded in the genome of mouse.


name: SYYM_SCHPO Tyrosine--tRNA ligase, mitochondrial (sprot)

description: A tyrosine--tRNA ligase, mitochondrial that is encoded in the genome of Schizosaccharomyces pombe 972h-.


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.


RASK_HUMAN GTPase KRas (sprot)

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


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: dyslexia-associated protein KIAA0319-like protein O-glycosylated 2 (human)

description: A dyslexia-associated protein KIAA0319-like protein (human) that has been O-glycosylated at the residue equivalent to Thr-235 of the amino acid sequence represented by UniProtKB:Q8IZA0-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:Q8IZA0-1, Thr-235, MOD:00005~GNO:G29068FM.


name: BI2L1_HUMAN BAR/IMD domain-containing adapter protein 2-like 1 (sprot)

description: A brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 that is encoded in the genome of human.


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: putative zinc finger protein 487 deaminated 1 (human)

description: A putative zinc finger protein 487 (human) that has been deaminated on the residue at the position equivalent to Gln-243 of the amino acid sequence represented by UniProtKB:B1APH4-1. Example: UniProtKB:B1APH4-1, Gln-243, MOD:00685.


name: ZN487_HUMAN Putative zinc finger protein 487 (sprot)

description: A putative zinc finger protein 487 that is encoded in the genome of human.


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.


name: immediate early response gene 2 protein isoform 1 (rat)

description: An immediate early response gene 2 protein isoform 1 that is encoded in the genome of rat.


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: IER2_HUMAN Immediate early response gene 2 protein (sprot)

description: An immediate early response gene 2 protein that is encoded in the genome of human.


name: IER2_MOUSE Immediate early response gene 2 protein (sprot)

description: An immediate early response gene 2 protein that is encoded in the genome of mouse.


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: immediate early response gene 2 protein isoform 1

description: An immediate early response gene 2 protein 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:P17950-1 or a 1:1 ortholog thereof.


name: immediate early response gene 2 protein isoform 1 (mouse)

description: An immediate early response gene 2 protein isoform 1 that is encoded in the genome of mouse.


name: IER2_DANRE Immediate early response gene 2 protein (sprot)

description: An immediate early response gene 2 protein that is encoded in the genome of zebrafish.


name: IER2_RAT Immediate early response gene 2 protein (sprot)

description: An immediate early response gene 2 protein that is encoded in the genome of rat.


name: agamous-like MADS-box protein AGL16 isoform 1 (Arabidopsis thaliana)

description: An agamous-like MADS-box protein AGL16 (Arabidopsis thaliana) 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:A2RVQ5-1.


name: transcription factor SOX-11 isoform 1 (rat)

description: A transcription factor SOX-11 isoform 1 that is encoded in the genome of rat.


transcription factor SOX-11 isoform 1

A transcription factor SOX-11 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:Q7M6Y2-1 or a 1:1 ortholog thereof.


name: transcription factor SOX-11 isoform 1 (mouse)

description: A transcription factor SOX-11 isoform 1 that is encoded in the genome of mouse.


PHB2_YEAST Prohibitin-2 (sprot)

A prohibitin-2 that is encoded in the genome of yeast.


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.


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.)


name: AFFL_DROME AF4/FMR2 family member lilli (sprot)

description: A protein that is a translation product of the lilli gene in fruit fly.


name: AF4/FMR2 family member lilli isoform A (fruit fly)

description: An AF4/FMR2 family member lilli (fruit fly) 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:Q9VQI9-1.


name: AF4/FMR2 family member lilli isoform D (fruit fly)

description: An AF4/FMR2 family member lilli (fruit fly) 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:Q9VQI9-2.


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: YNCL_ECOLI Uncharacterized protein YncL (sprot)

description: An uncharacterized protein YncL that is encoded in the genome of Escherichia coli K-12.


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.


name: alanine--tRNA ligase isoform Cytoplasmic (Candida albicans SC5314)

description: An alanine--tRNA ligase (Candida albicans SC5314) 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:Q5A8K2-2.


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.


Residue Collection on Oral Structures

description: A finding of residue collection on oral structures after swallowing.


name: JAL6_ARATH Myrosinase-binding protein 2 (sprot)

description: A protein that is a translation product of the F-ATMBP gene in Arabidopsis thaliana.


An oligopeptide comprising of L-threonine, L-proline, L-proline, L-alanine, glycine, L-proline, L-aspartic acid, L-valine, glycine, L-proline, and L-arginine amino acids joined in sequence by peptide linkages. It is isolated from the venoms of three species of New World pit vipers from the subfamily, Crotalinae.


name: RIN1_HUMAN Ras and Rab interactor 1 (sprot)

description: A Ras and Rab interactor 1 that is encoded in the genome of human.


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: RIN1_RAT Ras and Rab interactor 1 (sprot)

description: A Ras and Rab interactor 1 that is encoded in the genome of rat.


name: RIN1_MOUSE Ras and Rab interactor 1 (sprot)

description: A Ras and Rab interactor 1 that is encoded in the genome of mouse.


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.


name: PERK8_ARATH Proline-rich receptor-like protein kinase PERK8 (sprot)

description: A protein that is a translation product of the PERK8 gene in Arabidopsis thaliana.


name: PP415_ARATH Pentatricopeptide repeat-containing protein At5g43790 (sprot)

description: A protein that is a translation product of the PCMP-E30 gene in Arabidopsis thaliana.


name: NUCG_CAEEL Endonuclease G, mitochondrial (sprot)

description: An endonuclease G, mitochondrial that is encoded in the genome of worm.


name: CNOT7_DANRE CCR4-NOT transcription complex subunit 7 (sprot)

description: A CCR4-NOT transcription complex subunit 7 that is encoded in the genome of zebrafish.


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.


Adrenal hypoplasia

description: Developmental hypoplasia of the adrenal glands.


name: NOTO_HUMAN Homeobox protein notochord (sprot)

description: A homeobox protein notochord that is encoded in the genome of human.


homeobox protein notochord

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


name: Q91967_CHICK Homeodomain protein (trembl)

description: A homeobox protein notochord that is encoded in the genome of chicken.


name: NOTO_MOUSE Homeobox protein notochord (sprot)

description: A homeobox protein notochord that is encoded in the genome of mouse.


name: bone morphogenetic protein 10 isoform 1 (mouse)

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


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: BMP10_MOUSE Bone morphogenetic protein 10 (sprot)

description: A bone morphogenetic protein 10 that is encoded in the genome of mouse.


name: BMP10_RAT Bone morphogenetic protein 10 (sprot)

description: A bone morphogenetic protein 10 that is encoded in the genome of rat.


bone morphogenetic protein 10 isoform 1

A bone morphogenetic protein 10 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:O95393-1 or a 1:1 ortholog thereof.


DBL1_CAEEL Protein dbl-1 (sprot)

A bone morphogenetic protein 10 that is encoded in the genome of worm.


name: BMP10_HUMAN Bone morphogenetic protein 10 (sprot)

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


name: bone morphogenetic protein 10 isoform 1 (human)

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


lumican isoform 1 (rat)

A lumican isoform 1 that is encoded in the genome of rat.


lumican isoform 1

A lumican 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:P51884-1 or a 1:1 ortholog thereof.


lumican isoform 1 (mouse)

A lumican isoform 1 that is encoded in the genome of mouse.


lumican isoform 1 (human)

A lumican 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.


Hypophoria

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


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.


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.


Branch retinal vein occlusion

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


Axial myopia

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


Anterior chamber cyst

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.


hypopyon

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


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.


Macular hypopigmentation

description: Decreased amount of pigmentation in the macula lutea.


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.


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).


inherited retinal dystrophy

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


vitreous detachment

description: Detachment of the vitreous humor from the retina.


Upper eyelid edema

description: Edema in the region of the upper eyelid.


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.


Brown syndrome

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


Vertical supranuclear gaze palsy

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.


Hemiretinal vein occlusion

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


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.


High myopia

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