epicatechin gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of epicatechin. A natural product found in Parapiptadenia rigida.


A butan-4-olide that is gamma-valerolactone in which one of the methyl hydrogens has been replaced by a 3,4,5-trihydroxyphenyl group.


A galloyl-beta-D-glucose compound having four galloyl groups in the 1-, 2-, 3- and 6-positions.


DEMETHYLXANTHOHUMOL

A member of the class of chalcones that is trans-chalcone substituted by hydroxy groups at positions 4, 2', 4', and 6'  and a 3-methylbut-2-en-1-yl group at position 3'.


macabarterin

A ellagitannin isolated  from the stem bark of Macaranga barteri and has been shown to exhibit anti-inflammatory activity.


procyanidin B1 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of procyanidin B1.


procyanidin B2 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of procyanidin B2.


A galloyl-beta-D-glucose compound having two galloyl groups in the 1- and 6-positions.


A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of (-)-epicatechin-(4alpha->8)-(-)-epicatechin.


A gallate ester resulting from the formal condensation of gallic acid with 5-hydroxy group of (-)-epicatechin. Isolated from Orostachys japonica, it acts as an inhibitor of the enzyme mu-calpain (EC 3.4.22.52).


homoeriodictyol chalcone

A member of the class of  chalcones that is  trans-chalcone substituted by hydroxy groups at positions 4, 2', 4' and 6' and a methoxy group at position 3.


name: multiple congenital anomalies-hypotonia-seizures syndrome

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


name: developmental and epileptic encephalopathy, 77


name: multiple congenital anomalies-hypotonia-seizures syndrome 3

description: A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


name: multiple congenital anomalies-hypotonia-seizures syndrome 2

description: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


LAMINARIPENTAOSE

A (1->3)-beta-D-glucan consisting of five D-glucosyl residues linked in a linear sequence.


A glycotetraosylceramide having beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucose as the tetrasaccharide component.


Cranial Nerve II Palsy

description: Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

description: A non-neoplastic disorder that affects the optic nerve.


Unilateral Optic Nerve Hypoplasia

description: A congenital abnormality characterized by the underdevelopment of one optic nerve.


steroid sulfate

A sulfuric ester obtained by the formal condensation of a hydroxy group of any steroid with sulfuric acid.


clathsterol disulfonic acid

A steroid sulfate which is 16-hydroxystigmastane-2,3-diyl disulfonic acid that is substituted by a acetyloxy group at position 15 and by butanoyloxy groups at positions 22 and 23.


testosterone sulfate

A steroid sulfate that is testosterone substituted by a sulfoxy group at position 17.


(24S)-hydroxycholesterol 24-sulfate

A steroid sulfate that is (24S)-24-hydroxycholesterol carrying a single sulfo substituent at the O-24 position.


A withanolide that is 2,3-dihydrowithaferin A substituted by a sulfoxy group at position 3. Isolated from Physalis longifolia, it exhibits antineoplastic activity.


5beta-cyprinol sulfate

A steroid sulfate that is the sulfuric ester derivative of 5beta-cyprinol.


cortisol 21-sulfate

A steroid sulfate obtained by the formal condensation of hydroxy group at position 21 of cortisol with sulfuric acid.


A brassinosteroid that is 24-epi-cathasterone on which the hydroxy hydrogen at position 22 has been replaced by a sulfo group.


WITHALONGOLIDE G

A  withanolide that is 2,3-dihydrowithaferin A substituted by a hydroxy group at position 19 and a sulfoxy group at position 3. Isolated from Physalis longifolia, it exhibits antineoplastic activity.


17alpha-hydroxypregnenolone 3-sulfate

A steroid sulfate that is 17alpha-hydroxypregnenolone in which the hydroxy hydrogen at position 3 has been replaced by a sulfo group.


cataract 33

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.


Multiple Solitary Plasmacytoma of Bone

description: The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma.


chlorocycloalkane

A chlorohydrocarbon that is any cycloalkane substituted by at least one chloro group.


monochlorocyclohexane

A chlorocyclohexane carrying a single chloro group.


chlorocyclohexane

Any chlorocycloalkane that is cyclohexane substituted by at least one chlorine group.


A monovalent inorganic anion that consists of silicic acid in which one of the four OH groups has been deprotonated.


A trivalent inorganic anion obtained by removal of three protons from silicic acid.


A divalent inorganic anion obtained by removal of two protons from silicic acid.


ovarian microcystic stromal tumor

description: A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.


benign ovarian sex cord-stromal tumor

description: A sex cord-stromal tumor arising from the ovary, without metastatic potential.


ovarian fibrothecoma

description: A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).


prostate phyllodes tumor

description: An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.


Borderline Vulvar Phyllodes Tumor

description: A rare borderline phyllodes tumor arising from the vulva.


benign prostate phyllodes tumor

description: A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.


Refractory Malignant Phyllodes Tumor

description: Malignant phyllodes tumor that is resistant to treatment.


name: Phyllodes Tumor of Anogenital Mammary-Type Glands

description: A rare phyllodes tumor that arises from mammary-like glands in the anogenital region.


Malignant Vulvar Phyllodes Tumor

description: A rare malignant phyllodes tumor arising from the vulva.


benign phyllodes tumor

description: A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.


Benign Vulvar Phyllodes Tumor

description: A rare benign phyllodes tumor arising from the vulva.


Childhood Breast Phyllodes Tumor

description: A phyllodes tumor that arises from the breast and occurs during childhood.


Vulvar Phyllodes Tumor

description: A rare benign, borderline, or malignant phyllodes tumor arising from the vulva.


Borderline phyllodes tumor

description: A phyllodes tumor with morphologic characteristics which are intermediate between a benign and a malignant phyllodes tumor. The stromal sarcomatous changes are of low grade and are often reminiscent of low grade fibrosarcomas.


malignant prostate phyllodes tumor

description: An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.


validamycins

Any of the inositol-derived beta-D-glucoside antibiotics produced by Streptomyces hygroscopicus.


validamycin B

A member of the class of validamycins that is validamycin A in which the pro-R hydrogen at the unsubstituted position of the cycloxexane ring has been replaced by a hydroxy group.


VALIDAMYCIN

A member of the class of validamycins that is (1R,2S,3S,4S,6R)-4-amino-6-(hydroxymethyl)cyclohexane-1,2,3-triol in which the hydroxy group at position 1 has been converted to its beta-D-glucoside and in which one of the hydrogens attached to the nitrogen is replaced by a (1R,4R,5R,6S)-4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl group. It is the major validamycin produced by Streptomyces hygroscopicus.


name: megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


name: paternal uniparental disomy of chromosome 7

description: Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).


ciliary body spindle cell melanoma

description: A spindle cell melanoma that involves the ciliary body.


spindle cell lipoma

description: A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.


iris spindle cell melanoma

description: A spindle cell melanoma that involves the iris.


spindle cell melanoma

description: A melanoma characterized by the presence of malignant spindle-shaped melanocytes.


spindle cell intraocular melanoma

description: A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.


name: Complex Endometrial Hyperplasia with Atypia

description: A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures.  It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma.


name: Ampulla of Vater Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor

description: A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region.  It produces serotonin.


gonococcal cystitis

description: An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

description: Acute form of gonococcal cystitis.


amine

A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.


(S)-clenbuterol

The (S)-enantiomer of clenbuterol.


A member of the class of  propanolamines that is propane with a hydroxy substituent at C-1 and an amino substituent at C-2, making it both a primary amine and a primary alcohol.


(R)-dobutamine

The (R)-enantiomer of dobutamine.


coelimycin P1

An organosulfur heterocyclic compound that is 1,5-oxathiocane which has been substituted at the 2-pro-R, 3, 6, and 8 positions by oxo, acetamido,  5,6-dihydropyridin-2(1H)-ylidene, and  (2E)-but-2-enoyl groups, respectively, and which has been dehydrogenated to introduce a double bond at the 7-8 position. It was isolated from Streptomyces coelicolor M145 after genetically engineered increase of the metabolic flux and is the product of a polyketide biosynthetic gene cluster.


A primary amine of general formula RCH2CH2NH2 where R represents an aryl moiety.


enamine

An amine RNR'R'' where R has a double bond adjacent to the amine nitrogen.


Quinuclidine in which a hydrogen atom at position 3 is substituted by a hydroxy group.


(S)-diethylpropion

The (S)-enantiomer of amfepramone.


naphthylamine

A primary arylamine that is naphthalene substituted by an amino group at unspecified position.


(+)-TRANYLCYPROMINE

A 2-phenylcyclopropan-1-amine that is the (1S,2R)-enantiomer of tranylcypromine.


secondary amine

A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups.


A member of the class of 1,4-benzoquinones that is 1,4-benzoquinone in which the hydrogens at positions 2 and 5 have been replaced by aziridin-1-yl groups while the hydrogens at positions 3 and 6 have been replaced by (2-hydroxyethyl)amino groups.


indigoidine

A member of the class of pyridone that is a dimeric blue pigment biosynthesised from L-glutamine.


A racemate comprising equimolar amounts of (R)- and (S)-3,4-methylenedioxy-N-ethylamphetamine3,4-methylenedioxy-N-ethylamphetamine.


A propanoate ester that is propyl propanoate substituted by a benzyl and phenyl group at position 1, a methyl group at position 2 and a dimethylamino group at position 3.


primary arylamine

A primary amine formally derived from ammonia by replacing one hydrogen atom by an aryl group. R-NH2 where R is an aryl group.


flupyradifurone

A tertiary amino compound that is ammonia in which the nitrogens have been replaced by (6-chloropyridin-3-yl)methyl, 2,2-difluoroethyl, and 5-oxo-2,5-dihydrofuran-3-yl groups, respectively. A nicotinic acetylcholine receptor (AChR) agonist, it is used as an insecticide to control sucking pests in a variety of crops.


aralkylamine

An alkylamine in which the alkyl group is substituted by an aromatic group.


levdobutamine

The (S)-enantiomer of dobutamine.


tranylcypromine

A 2-phenylcyclopropan-1-amine that is the (1R,2S)-enantiomer of tranylcypromine.


A 24-membered macrolide antibiotic isolated from the fermentation broth of Streptomyces sp.NK154183. It exhibits antifungal and antitumour activity against the human colon adenocarcinoma.


chloridazone-methyl-desphenyl

A pyridazinone that is pyridazin-3(2H)-one substituted by an amino group at position 5, a chloro group at position 4 and a methyl group at position 2. It is a metabolite of the herbicide chloridazone.jfuyklriltoil


An ethyl ester resulting from the formal condensation of the carboxy group of 3-amino-4-(cyclohexylamino)benzoic acid with ethanol. It is a potent inhibitor of ferroptosis, a distinct non-apoptotic form of cell death caused by lipid peroxidation. It is also a radical-trapping antioxidant and has the ability to reduce the accumulation of lipid peroxides and chain-carrying peroxyl radicals.


METHOXYPHENAMINE HYDROCHLORIDE

The hydrochloride salt of methoxyphenamine, a beta-adrenergic receptor agonist that regulates norephinephrine and ephinephrinein concentrations.


bacillaene

A polyene antibiotic obtained from Bacillus subtilis 168 that is active against a broad spectrum of bacteria. It is notoriously unstable.


(R)-fenpropidin

A 1-[3-(4-tert-butylphenyl)-2-methylpropyl]piperidine that has R configuration.


alkylamine

Any primary amine in which the substituent attached to nitrogen is an alkyl group.


(R)-clenbuterol

The (R)-enantiomer of clenbuterol.


dimethylthiambutene

N,N-Dimethylbut-3-en-2-amine in which each of the hydrogens at position 4 is substituted by a 2-thienyl group. An opioid analgesic drug, it is controlled under the UN Single Convention on Narcotic Drugs (1961), but is used in veterinary medicine, particularly in Japan.


amino fatty acid

A fatty acid containing at least one amino substituent.


phenylalkylamine

An arylalkylamine in which the aryl group is phenyl.


R(-)amphetamine

A 1-phenylpropan-2-amine that has R configuration.


yanuthone M

A class I yanuthone that is yanuthone K in which the double bond at the terminal end of the farnesyl substituent has undergone hydration to afford the corresponding tertiary alcohol. Isolated from the filamentous fungus Aspergillus niger, it shows antifungal activity towards the pathogenic yeast Candida albicans (IC50 = 77.5 +-3.7 muM).


Disperse Blue 124

A monoazo compound consisting of diazene with a 5-nitrothiazol-2-yl group attached to one nitrogen and a substituted 4-aminophenyl group attached to the other; used as a dye standard for the assay of allergy-releasing dyes in textiles.


omega-amino fatty acid

Any fatty acid n atoms long having an amino substituent at position n (omega).


(S)-fenpropidin

A 1-[3-(4-tert-butylphenyl)-2-methylpropyl]piperidine that has S configuration.


methyldopate

The ethyl ester of alpha-methyl-L-dopa.


amphetamines

Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.


ALISIAQUINONE C

An organic heterohexacyclic compound that is isolated from New Caledonian deep water sponge and exhibits antiplasmodial properties.


12-AMINODODECANOIC ACID

An omega-amino fatty acid that is dodecanoic acid in which one of the terminal amino hydrogens has been replaced by an amino group.


diaziquone

A 1,4-benzoquinone that is substituted at positions 2 and 5 have been replaced by aziridin-1-yl groups and at positions 3 and 6 by (ethoxycarbonyl)amino groups.


chloridazone-desphenyl

A heteroaryl hydroxy compound that is pyridazin-3-ol substituted by an amino group at position 5 and a chloro group at position 4. It is a metabolite of the herbicide chloridazone.


primary amine

A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.


alkylamines

Any amine formally derived from ammonia by replacing one, two or three hydrogen atoms by alkyl groups.


A member of the class of chromenes that is 7,7-dimethyl-5-oxo-5,6,7,8-tetrahydrochromene carrying additional amino, cyano and 3-cyclohexen-1-yl substituents at positions 2, 3 and 4 respectively.


L-phenylalaninol

An amino alcohol resulting from the formal reduction of the carboxy group of L-phenylalanine to the corresponding alcohol.


tertiary amine

A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.


non-syndromic syndactyly

description: A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.


syndactyly type 5

description: Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.


non-syndromic synpolydactyly

description: A synpolydactyly that is not part of a larger syndrome.


polysyndactyly 4

description: Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.


syndactyly type 1

description: Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.


name: mesoaxial synostotic syndactyly with phalangeal reduction

description: Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.


syndactyly type 4

description: A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).


synpolydactyly type 2

description: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.


syndactyly type 3

description: Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.


TRIDECANAL

A long-chain fatty aldehyde that is tridecane in which two hydrogens attached to a terminal carbon are replaced by an oxo group.


name: familial avascular necrosis of femoral head

description: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


(+)-epigallocatechin

A flavan-3,3',4',5,5',7-hexol that has (2S,3S)-configuration.


A steroid acid that is 23,24-bisnor-chol-4-en-22-oic acid bearing additional oxo and hydroxy substituent at positions 3 and 9 respectively.


name: Advanced Malignant Small Intestinal Neoplasm

description: A malignant small intestinal neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Malignant neoplasm of small intestine, incl duodenum metastatic

description: A malignant small intestinal neoplasm that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Small Intestinal Carcinoma

description: Small intestinal carcinoma that has spread to nearby tissues or lymph nodes.


name: Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

description: A small intestinal small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Small intestine adenocarcinoma metastatic

description: An adenocarcinoma that arises from the small intestine and has metastasized to other anatomic sites.


name: Advanced Small Intestinal Neuroendocrine Carcinoma

description: A small intestinal neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Locally Advanced Small Intestinal Adenocarcinoma

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


name: Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

description: A small intestinal large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine carcinoma metastatic

description: A carcinoma that arises from the small intestine and it has metastasized to other anatomic sites.


name: Metastatic Small Intestinal Neuroendocrine Carcinoma

description: A small intestinal neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


myopathy caused by variation in GMPPB

description: Any myopathy in which the cause of the disease is a variation in the GMPPB gene.


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


name: autosomal recessive limb-girdle muscular dystrophy type 2T

description: Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


name: COX deficiency, benign infantile mitochondrial myopathy

description: A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.


glycolaldehyde triphosphate

A member of the class of aldehydes that is glycolaldehyde in which the hydroxy hydrogen has been replaced by a triphosphate group.


name: ENSAT Stage III Adrenal Cortical Carcinoma

description: Stage III includes: T3/T4, N0/N1, M0.  Tumor of any size that has spread to the fat outside the adrenal gland or into nearby organs or tissues and/or has spread to the regional lymph nodes. (ENSAT 7th Ed, 2009)


name: Adrenal Cortical Carcinoma by ENSAT Stage

description: A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT).


name: ENSAT Stage I Adrenal Cortical Carcinoma

description: Stage I includes: T1, N0, M0.  Tumor 5 cm or less in greatest dimension. The tumor has not invaded the surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues.  (ENSAT 7th Ed, 2009)


name: ENSAT Stage II Adrenal Cortical Carcinoma

description: Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)


name: ENSAT Stage IV Adrenal Cortical Carcinoma

description: Stage IV includes: Any T, Any N, M1. Tumor of any size that involves distant organs such as liver, bone or brain. The tumor may or may not involve nearby organs, tissues or lymph nodes. (ENSAT 7th Ed, 2009)


name: renal hypoplasia, unilateral, non-human animal

description: Renal hypoplasia, unilateral that occurs in non-human animals.


renal hypoplasia, unilateral, pig

description: Renal hypoplasia, unilateral that occurs in pig.


name: Open fracture of carpal bone, unspecified

description: A traumatic break in one or more of the carpal bones that  involves a break in the adjacent skin.


Closed fracture of carpal bone

description: A traumatic break in one or more of the carpal bones  that does not involve a break in the adjacent skin.


A 1,2-diacyl-sn-glycerol where butyryl and oleoyl are the 1- and 2-acyl groups respectively.


A 1,3-diglyceride in which the acyl groups at positions 1 and 3 are specified as palmitoyl and oleoyl respectively (the R-stereoisomer).


diacylglycerol 28:0

A diglyceride in which the two acyl groups contain a total of 28 carbons and 0 double bonds.


diacylglycerol 34:2

A diglyceride in which the two acyl groups contain a total of 34 carbons and 2 double bonds.


diacylglycerol 33:1

A diglyceride in which the two acyl groups contain a total of 33 carbons and 1 double bond.


A 1,2-diacyl-sn-glycerol where oleoyl and lauroyl are the 1- and 2-acyl groups respectively.


A 1,2-diacyl-sn-glycerol that has palmitoyl and tetradecanoyl as 1- and 2-acyl groups respectively.


A 2,3-diacyl-sn-glycerol that has oleoyl and lauroyl as the 2- and 3-acyl groups respectively.


A diacylglycerol 40:10 in which the acyl groups specified at positions 1 and 2 are (6Z,9Z,12Z,15Z)-octadecatetraenoyl and (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl respectively.


A diacylglycerol 38:2 in which the acyl groups specified at positions 1 and 2 are (9Z,12Z)-octadecadienoyl and  icosanoyl respectively.


A 1-alkyl-2-acylglycerol that has S-configuration.


diacylglycerol 34:0

A diglyceride in which the two acyl groups contain a total of 34 carbons and 0 double bonds.


A diacylglycerol 40:5 in which the acyl groups specified are  icosanoyl and (5Z,8Z,11ZZ,14Z,17Z)-eicosapentaenoyl respectively,


A  1,2-diglyceride with lauroyl and oleoyl as the two acyl groups.


diacylglycerol 36:3

A diglyceride in which the two acyl groups contain a total of 36 carbons and 3 double bonds.


A 1,2-diglyceride with stearoyl and oleoyl as the acyl groups.


A 1,2-diacyl-sn-glycerol where oleoyl and linoleoyl are the 1- and 2-acyl groups respectively.


A 1,2-diacyl-sn-glycerol that has palmitoyl and palmitoleoyl as 1- and 2-acyl groups respectively.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as palmitoyl and arachidonoyl respectively.


A 1,2-diacyl-sn-glycerol with palmitoyl as the 1-acyl group and oleoyl as the 2-acyl group.


A glycerolipid where R1 is an alkyl or an acyl group, R2 is an acyl chain and R3 can be an H, a phosphate or a phospholipid group.


diacylglycerol 40:7

A diglyceride in which the two acyl groups contain a total of 40 carbons and 7 double bonds.


diacylglycerol 36:6

A diglyceride in which the two acyl groups contain a total of 36 carbons and 6 double bonds.


A 1,2-diglyceride with acyl groups at positions 2 and 3 of the sn-glycerol.


A  2,3-diacyl-sn-glycerol where oleoyl and arachidonoyl form the 2- and 3-acyl groups respectively.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as 12-hydroxy-(9Z)-octadecenoyl.


A 1,2-diacyl-sn-glycerol where oleoyl and decanoyl are the 1- and 2-acyl groups, respectively.


A 1,2-diacyl-sn-glycerol that has lauroyl and oleoyl as 1- and 2-acyl groups respectively.


diacylglycerol 33:2

A diglyceride in which the two acyl groups contain a total of 33 carbons and 2 double bonds.


A 1,2-diacyl-sn-glycerol where oleoyl and stearoyl are the 1- and 2-acyl groups respectively.


A 1,2-diglyceride in which the acyl groups at positions 1 and 2 are specifed as stearoyl and arachidonoyl respectively.


A 1,2-diacyl-sn-glycerol where oleoyl and arachidonoyl are the 1- and 2-acyl groups respectively.


dihexadecanoylglycerol

A diglyceride that is glycerol in which any two of the hydroxy groups have undergone formal esterification by condensation with hexadecanoic (palmitic) acid. Formula C35H68O5. For the structure shown, either R1 = H and R2 = hexadecanoyl or R1 = hexadecanoyl and R2 = H.


A 1,2-diglyceride in which the acyl groups at positions 1 and 2 are specified as (11Z)-octadecenoyl.


A  1,2-diacyl-sn-glycerol where arachidonoyl and oleoyl form the 1- and 2-acyl groups respectively.


diacylglycerol 38:7

A diglyceride in which the two acyl groups contain a total of 38 carbons and 7 double bonds.


A 1,2-diglyceride with myristoyl and oleoyl as the two acyl groups.


diacylglycerol 36:1

A diglyceride  in which the two acyl groups contain a total of 36 carbons and 1 double bond.


A  1,2-diacyl-sn-glycerol where icosanoyl and oleoyl are the 1- and 2-acyl groups respectively.


SAG

A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specifed as stearoyl and arachidonoyl respectively.


A 1,2-diacyl-sn-glycerol in which the acyl groups positions 1 and 2 are specified as alpha-linolenoyl and icosanoyl (arachidoyl) respectively.


A galactoglycerolipid that is 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the galactosyl moiety is acylated at position 6.


diacylglycerol 32:1

A diglyceride in which the two acyl groups contain a total of 32 carbons and 1 double bond.


A 1,2-diacyl-sn-glycerol that has myristoyl and palmitoyl as 1- and 2-acyl groups respectively.


A 1,3-diglyceride in which both acyl groups are specified as linoleoyl.


diacylglycerol 26:0

A diglyceride in which the two acyl groups contain a total of 26 carbons and 0 double bonds.


diacylglycerol 40:1

A diglyceride in which the two acyl groups contain a total of 40 carbons and 1 double bond.


diacylglycerol 36:5

A diglyceride in which the two acyl groups contain a total of 36 carbons and 5 double bonds.


diacylglycerol 36:2

A diglyceride in which the two acyl groups contain a total of 36 carbons and 2 double bonds.


diacylglycerol 34:1

A diglyceride in which the two acyl groups contain a total of 34 carbons and 1 double bond.


A 1,3-diglyceride in which both acyl groups are specified as palmitoleoyl.


diacylglycerol 38:2

A diglyceride in which the two acyl groups contain a total of 38 carbons and 2 double bonds.


A  1,2-diacyl-sn-glycerol that has myristoyl and oleoyl as 1- and 2-acyl groups respectively.


diacylglycerol 36:4

A diglyceride in which the two acyl groups contain a total of 36 carbons and 4 double bonds.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as stearoyl (octadecanoyl).


A 1,2-diacyl-sn-glycerol with myristoyl and palmitoleoyl as 1- and 2-acyl groups respectively.


A 1,2-diglyceride where linoleoyl and oleoyl are the two acyl groups.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as 7Z,10Z,13Z,16Z-docosatetraenoyl.


A 1,2-diglyceride in which the 1- and 2-acyl groups are specified as oleoyl and palmitoyl respectively.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoleoyl and stearoyl respectively.


A 1,2-diacyl-sn-glycerol that has stearoyl and oleoyl as the 1- and 2-acyl groups respectively.


A 1-alkyl-2-acyl-sn-glycerol in which the alkyl and acyl groups are specified as palmityl (hexadecyl) and arachidonoyl respectively.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoleoyl.


A 2,3-diacyl-sn-glycerol that has  oleoyl and myristoyl as 2- and 3-acyl groups respectively.


diacylglycerol 35:3

A diglyceride in which the two acyl groups contain a total of 35 carbons and 3 double bonds.


A diglyceride in which both groups are (10Z)-heptadecenoyl with their positions of acylation unspecified. For the structure shown, either R1 = H and R2 = (10Z)-heptadecenoyl or R1 = (10Z)-heptadecenoyl and R2 = H.


A 1,2-diacyl-sn-glycerol in which the acyl groups positions 1 and 2 are specified as alpha-linolenoyl and (11Z,14Z)-icosadienoyl respectively.


A diacylglycerol having two docosahexaenoyl chains at undefined sn positions


A 2,3-diacyl-sn-glycerol in which the 2- and 3-acyl groups are both specified as oleoyl.


A dibutyrin resulting from the condensation the secondary hydroxy group and one of the primary hydroxy groups of glycerol with butyric acid.


A diacylglycerol 40:0 in which the acyl groups at positions 1 and 2 are octadecanoyl and docosanoyl respectively.


A 1,2-diacyl-sn-glycerol where both acyl groups are specified as octadecanoyl.


diacylglycerol 40:0

A diglyceride in which the acyl groups  contain a total of 40 carbons and 0 double bonds.


1,2 ditetradecanoylglycerol

A 1,2-diglyceride  in which the acyl groups at positions 1 and 2 are specifed as tetradecanoyl.


A 2,3-diacyl-sn-glycerol that has oleoyl and stearoyl as the 2- and 3-acyl groups respectively.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as capryl (decanoyl) and oleoyl (9Z-octadecenoyl) respectively.


diacylglycerol 34:3

A diglyceride in which the two acyl groups contain a total of 34 carbons and 3 double bonds.


diacylglycerol 36:0

A diglyceride in which the two acyl groups contain a total of 36 carbons and 0 double bonds.


diacylglycerol 32:2

A diglyceride in which the two acyl groups contain a total of 32 carbons and 2 double bonds.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as palmitoyl (hexadecanoyl).


diacylglycerol 46:7

A diglyceride in which the two acyl groups contain a total of 46 carbons and 7 double bonds.


A 1-alkyl-2-acyl-sn-glycerol in which the alkyl and acyl groups are specified as palmityl (hexadecyl) and oleoyl respectively.


A diacylglycerol 38:0 in which the acyl groups specified at positions 1 and 2 are hexadecanoyl and docosanoyl respectively.


A 1,3-diglyceride in which the acyl groups at positions 1 and 3 are specified as oleoyl and linoleoyl respectively.


diacylglycerol 34:5

A diglyceride in which the two acyl groups contain a total of 34 carbons and 5 double bonds.


diacylglycerol 40:5

A diglyceride in which the acyl groups contain a total of 40 carbons and 5 double bonds.


A 1,2-diacyl-sn-glycerol where oleoyl and myristoyl are the 1- and 2-acyl groups respectively.


A 1,2-diacyl-sn-glycerol where alpha-linolenoyl and oleoyl form the 1- and 2-acyl groups respectively.


A 2,3-diacyl-sn-glycerol in which both the 2- and 3-acyl groups are specified as octanoyl.


A 1,3-diglyceride in which both acyl groups are specified as linolenoyl.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as palmitoyl and (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl respectively.


dibutyrin

A diglyceride resulting from the formal condensation of any two of the hydroxy groups of glycerol with the carboxy groups of two molecules of butanoic acid (either R1 = H and R2 = butanoyl, or R1 = butanoyl and R2 = H). A 'closed class'.


diacylglycerol 38:5

A diglyceride in which the two acyl groups contain a total of 38 carbons and 5 double bonds.


A 1,2-diacyl-sn-glycerol where linoleoyl and oleoyl form the 1- and 2-acyl groups respectively.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as oleoyl and gondoyl respectively.


A 1,2-diglyceride in which the acyl groups at positions 1 and 2 are specified as decanoyl and oleoyl respectively.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as stearoyl and 7Z,10Z,13Z,16Z-docosatetraenoyl respectively.


A diacylglycerol where the acyl group at sn-1 or sn-3 is palmitoyl and the acyl group at position sn-2 is unkown.


diacylglycerol 38:9

A diglyceride in which the two acyl groups contain a total of 38 carbons and 9 double bonds.


A 1,3-diglyceride in which the acyl groups at positions 1 and 3 are specified as oleoyl and palmitoyl respectively.


A 1,2-diglyceride with palmitoyl and oleoyl as the two acyl groups.


dipalmitoleoylglycerol

A diglyceride in which both groups are palmitoleoyl with their positions of acylation unspecified. For the structure shown, either R1 = H and R2 = palmitoleoyl or R1 = palmitoleoyl and R2 = H.


A  2,3-diacyl-sn-glycerol where oleoyl and alpha-linolenoyl form the 2- and 3-acyl groups respectively.


A 1,2-diglyceride where arachidonoyl and oleoyl are the two acyl groups.


A 1,3-diglyceride in which the acyl groups at positions 1 and 3 are specified as oleoyl and palmitoyl respectively (the S-stereoisomer).


A 1,2-diacyl-sn-glycerol in which both the acyl groups are specified as hexadecadienoyl (the position of the two double bonds is unspecified).


diacetin

A diglyceride resulting from the formal condensation of any two of the hydroxy groups of glycerol with the carboxy groups of two molecules of acetic acid (either R1 = H and R2 = Ac, or R1 = Ac and R2 = H).


diacylglycerol 42:11

A diglyceride in which the two acyl groups contain a total of 42 carbons and 11 double bonds.


A 1,3-diglyceride in which the 1- and 3-acyl groups are specified as palmitoyl and stearoyl respectively (the R-enantiomer).


diacylglycerol 30:1

A  diglyceride in which the two acyl groups contain a total of 30 carbons and 1 double bonds.


diacylglycerol 41:5

A diglyceride in which the two acyl groups contain a total of 41 carbons and 5 double bonds.


diacylglycerol 28:2

A diglyceride in which the two acyl groups contain a total of 28 carbons and 2 double bonds.


A 1,2-diacyl-sn-glycerol in which the acyl groups positions 1 and 2 are specified as alpha-linolenoyl and (8Z,11Z,14Z)-icosatrienoyl respectively.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as caproyl (hexanoyl).


A 1,2-diacyl-sn-glycerol in which both acyl groups are tetradecanoyl (myristoyl).


diacylglycerol 28:1

A diglyceride in which the two acyl groups contain a total of 28 carbons and 1 double bond.


A dibutyrin resulting from the condensation of both of the primary hydroxy groups of glycerol with butyric acid.


diacylglycerol 38:6

A diglyceride in which the two acyl groups contain a total of 38 carbons and 6 double bonds.


A 1-alkyl-2-acyl-sn-glycerol in which the 1-alkyl substituent can be any alk-1-enyl group.


diacylglycerol 40:10

A diglyceride in which the acyl groups contain a total of 40 carbon atoms and 0 double bonds.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoleoyl and linoleoyl respectively.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as myristoyl (tetradecanoyl).


diacylglycerol 38:4

A diglyceride in which the two acyl groups contain a total of 38 carbons and 4 double bonds.


A 1,3-diglyceride obtained by the formal acylation of positions 1 and 3 of glycerol by hexadecanoic (palmitic) acid.


diacylglycerol 44:12

A diglyceride in which the two acyl groups contain a total of 44 carbons and 12 double bonds.


diacylglycerol 34:4

A diglyceride in which the two acyl groups contain a total of 34 carbons and 4 double bonds.


diacylglycerol 41:1

A diglyceride in which the two acyl groups contain a total of 41 carbons and 1 double bond.


diacylglycerol 30:2

A diglyceride in which the two acyl groups contain a total of 30 carbons and 2 double bonds.


diacylglycerol 42:10

A diglyceride in which the two acyl groups contain a total of 42 carbons and 10 double bonds.


A diacylglycerol 34:1 in which the acyl groups specified at positions 1 and 2 are (11Z)-octadecenoyl and hexadecanoyl respectively.


A diacylglycerol 34:0 in which the acyl groups specified at positions 1 and 2 are hexadecanoyl and octadecanoyl respectively.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as palmitoleoyl.


diacylglycerol 37:1

A diglyceride in which the two acyl groups contain a total of 37 carbons and 1 double bond.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoyl and (11Z,14Z)-eicosadienoyl respectively.


A 1,2-diacyl-sn-glycerol in which both acyl groups are specified as palmitoyl (hexadecanoyl).


A 1,3-diglyceride with both acyl groups specified as oleoyl.


diacylglycerol 40:8

A diglyceride in which the acyl groups contain a total of 40 carbons and 8 double bonds.


palmitoylacylglycerol

A diacylglycerol with an undefined acyl group at position sn-1 or sn-3 and a palmitoyl group at an undefined position.


diacylglycerol 40:4

A diglyceride in which the two acyl groups contain a total of 40 carbons and 4 double bonds.


A 1,2-diacyl-sn-glycerol in which the acyl groups positions 1 and 2 are specified as alpha-linolenoyl and (11Z)-icosenoyl respectively.


dipropionin

A diglyceride resulting from the formal condensation of any two of the hydroxy groups of glycerol with the carboxy groups of two molecules of propionic acid (either R1 = H and R2 = propanoyl, or R1 = propanoyl and R2 = H).


diacylglycerol 38:3

A diglyceride in which the two acyl groups contain a total of 38 carbons and 3 double bonds.


A 1,2-diglyceride in which the acyl groups at positions 1 and 2 are specified as (9Z)-hexadecenoyl.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as oleoyl and alpha-linolenoyl respectively.


A 1,2-diacyl-sn-glycerol that has pentadecanoyl as 1- and 2-acyl groups.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoyl and (7Z,10Z,13Z,16Z)-docosatetraenoyl  respectively.


A 1,2-diglyceride with linolenoyl and oleoyl as the two acyl groups.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as linoleoyl.


A 1,2-diacyl-sn-glycerol in which both the acyl groups are specified as (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl.


SLG

A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as stearoyl and linoleoyl respectively.


diacylglycerol 32:0

A diglyceride in which the two acyl groups contain a total of 32 carbons and 0 double bond.


diacylglycerol 38:0

A diglyceride in which the acyl groups contain a total of 38 carbons and 0 double bonds.


A 1,3-diglyceride with acyl groups at positions 1 and 3 of sn-glycerol.


A diacylglycerol 36:0 in which both acyl group contain 18 carbons.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as (9Z,12Z)-octadecadienoyl and octadecanoyl respectively.


A 1,2-diacyl-sn-glycerol in which the acyl groups positions 1 and 2 are specified as alpha-linolenoyl and (5Z,8Z,11Z)-icosatrienoyl respectively.


diacylglycerol 35:0

A diglyceride in which the two acyl groups contain a total of 35 carbons and 0 double bonds.


A 1,2-diglyceride obtained by the formal acylation of positions 1 and 2 of glycerol by hexadecanoic (palmitic) acid.


A 1,2-diacyl-sn-glycerol where octanoyl and oleoyl form the 1- and 2-acyl groups respectively.


A 2,3-diacyl-sn-glycerol where oleoyl and linoleoyl form the 2- and 3-acyl groups respectively.


diacylglycerol 32:3

A diglyceride in which the two acyl groups contain a total of 32 carbons and 3 double bonds.


A 2,3-diacyl-sn-glycerol with oleoyl as 2-acyl group and palmitoyl as the 3-acyl group.


diacylglycerol 31:1

A diglyceride in which the two acyl groups contain a total of 31 carbons and 1 double bond.


diacylglycerol 38:1

A diglyceride in which the two acyl groups contain a total of 38 carbons and 1 double bond.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are both myristoleoyl groups.


diacylglycerol 33:3

A diglyceride in which the two acyl groups contain a total of 33 carbons and 3 double bonds.


A 1-(alk-1-enyl)-2-acyl-sn-glycerol in which the alk-1-enyl group has Z geochemistry.


diacylglycerol 40:6

A diglyceride in which the two acyl groups contain a total of 40 carbons and 6 double bonds.


A diacylglycerol 34:0 in which one acyl group contains 18 carbons the other, 16 carbons


dilinoleoylglycerol

A diglyceride that is glycerol in which any two of the hydroxy groups have undergone formal esterification by condensation with linoleic acid ((Z,Z)-octadeca-9,12-dienoic acid). Formula C39H68O5. For the structure shown, either R1 = H and R2 = linoleoyl or R1 = linoleoyl and R2 = H.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as oleoyl and 7Z,10Z,13Z,16Z-docosatetraenoyl respectively.


A 1,2-diacyl-sn-glycerol in which both acyl groups are specified as linoleoyl.


A diacyl-sn-glycerol with palmitoyl as the 1-acyl group and oleoyl with its position of acylation unspecified. For the structure shown, either R1 = H and R2 = oleoyl or R1 = oleoyl and R2 = H.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as oleoyl and 4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl respectively.


A 1,3-diglyceride in which the acyl groups at positions 1 and 3 are specified as palmitoyl (hexadecanoyl) and linoleoyl respectively.


A 2,3-diacyl-sn-glycerol in which the acyl groups at positions 2 and 3 are specified as palmitoyl and oleoyl respectively.


diacylglycerol 40:3

A diglyceride in which the two acyl groups contain a total of 40 carbons and 3 double bonds.


diacylglycerol 35:1

A diglyceride in which the two acyl groups contain a total of 35 carbons and 1 double bond.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as icosanoyl (arachidoyl) and arachidonoyl respectively.


A 1,2-diacyl-sn-glycerol in which the 1- and 2-acyl groups are specified as palmitoyl and (8Z,11Z,14Z-eicosatrienoyl respectively.


diarachidonoylglycerol

A diacylglycerol having two arachidonoyl chains at undefined sn positions


A 1,3-diglyceride in which both acyl groups contain 18 carbons and 2 double bonds.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as oleoyl and 8Z,11Z,14Z-eicosatrienoyl respectively.


A beta-D-galactosyl-(1->4)-beta-D-glucosylceramide where the ceramide N-acyl group is specified as hexacosanoyl.


name: trichorhinophalangeal syndrome, type III

description: A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.


tricin 7-O-beta-D-glucoside

A glycosyloxyflavone that is 3',5'-di-O-methyltricetin (tricin) in which the phenolic hydrogen at position 7 has been replaced by a beta-D-glucopyranosyl group.


name: round cell sarcoma with EWSR1-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.


name: 2-[(2R,3R,6S)-2-(hydroxymethyl)-3-(1-oxopropylamino)-3,6-dihydro-2H-pyran-6-yl]acetic acid methyl ester


urolithiasis, pig

description: Urolithiasis that occurs in pig.


name: autosomal dominant nonsyndromic hearing loss 65

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


Probable Acute COVID-19 Case

description: A presumed acute COVID-19 infection as evidenced by detection of SARS-CoV-2 by antigen test in a respiratory specimen, by meeting clinical criteria and epidemiological linkage criteria for COVID-19 with no confirmatory laboratory testing performed, or by a death certificate that lists COVID-19 disease or SARS-CoV-2 as an underlying cause of death or a significant condition contributing to death with no confirmatory laboratory evidence of SARS-CoV-2.


Coronavinae infectious disease

description: Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).


name: Pulmonary Thromboembolic Disease Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Intravascular migration of a venous embolus to the pulmonary arterial circulation, microvascular thrombosis in the pulmonary capillaries, or pulmonary artery thrombus in situ diagnosed by a positive pulmonary angiogram, an unequivocally positive helical CT scan, a high-probability ventilation-perfusion scan, or autopsy that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Post-Acute Cardiovascular Sequelae of COVID-19

description: Cardiovascular sequelae persisting weeks or months after SARS-CoV-2 infection.


name: Supraventricular Tachyarrhythmia Other than Atrial Fibrillation or Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Supraventricular tachycardia other than atrial fibrillation or atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Reduced left ventricular function with less than 50% ejection fraction in a patient with history of suspected or confirmed myocardial ischemia or acute coronary syndrome (ACS) that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Symptomatic COVID-19 Infection Laboratory-Confirmed

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is symptomatic at the time of testing.


name: Pericarditis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Pericarditis that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Confirmed Acute COVID-19 Case

description: An acute COVID-19 infection that is verified by detection of SARS-CoV-2 RNA in a clinical or autopsy specimen using a molecular amplification test (e.g., RT-PCR).


name: Pericardial Effusion Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Pericardial effusion that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Atrial Fibrillation Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Atrial fibrillation in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Severe COVID-19 Infection

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized, requires respiratory support, and may also require additional organ support including vasopressor therapy, renal replacement therapy, or extracorporeal membrane oxygenation. (based on WHO COVID-19 Disease Severity 5, 6 and 7)


name: Asymptomatic COVID-19 Infection Laboratory-Confirmed

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is asymptomatic at the time of testing.


name: Cardiac Structural Abnormalities Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Cardiac structural changes or abnormalities characterized by myocardial systolic dysfunction or myocardial edema or fibrosis on non-invasive cardiac imaging that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: New-onset Heart Failure Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: New onset of heart failure with a clinical syndrome of dyspnea, fatigue, fluid retention/peripheral edema that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Suspected Acute COVID-19 Case

description: A likely acute COVID-19 infection as evidenced by detection of specific antibody in serum, plasma, or whole blood, or detection of specific antigen by immunocytochemistry in an autopsy specimen.


name: Prior COVID-19 Infection With Residual Sequelae of Post-Acute COVID-19

description: A finding indicating that there is prior evidence of COVID-19 in an individual who has residual sequelae of post-acute COVID-19.


Moderate COVID-19 Infection

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized and may require oxygen therapy. (based on WHO COVID-19 Disease Severity 3 and 4)


name: Prior COVID-19 Infection Without Residual Sequelae of Post-Acute COVID-19

description: A finding indicating that there is prior evidence of COVID-19 in an individual who has no residual sequelae of post-acute COVID-19.


Mild COVID-19 Infection

description: An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is still ambulatory but may have limitation of their activities. (based on WHO COVID-19 Disease Severity 1 and 2)


name: Neurovascular Disorder Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: A disorder of the nervous system related to a vascular etiology that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


name: Deep Venous Thrombosis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Formation of multiple thrombi in the large veins of the body, diagnosed with Doppler ultrasound, occurring most frequently in lower extremities or upper extremities, that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


COVID Reinfection

description: A new, discrete episode of acute COVID-19 in an individual with a prior history of probable/confirmed COVID-19.


name: Non-Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Reduced left ventricular function with less than 50% ejection fraction but without evidence of myocardial ischemia that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Current Seasonal Coronavirus Infection

description: Seasonal coronavirus infection is evident at the time of testing.


Prior COVID-19 Infection

description: A finding indicating that there is prior evidence of COVID-19 in an individual who is no longer in the infectious period.


chromosome Y disorder

description: Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

description: Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.


spermatogenic failure, Y-linked, 2

description: A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y.  It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.


48,XYYY syndrome

description: 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.


partial chromosome Y deletion

description: Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.


ring chromosome Y

description: Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.


49,XYYYY syndrome

description: 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.


isochromosomy Yp

description: Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.


name: Pancreatic Well Differentiated Ductal Adenocarcinoma

description: A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures.


Stage M3 Pineoblastoma

description: Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


(R,R)-asenapine

A 5-chloro-2-methyl-2,3,3a,12b-tetrahydrodibenzo[2,3:6,7]oxepino[4,5-c]pyrrole in which both of the stereocentres have R configuration.


Childhood Cutaneous Melanoma

description: A rare melanoma of the skin that occurs during childhood.


A 2-acyl-sn-glycero-3-phosphocholine in which the acyl group is specified as (11R)-hydroxy-(5Z,8Z,12E,14Z)-icosatetraenoyl.


skin sensitivity to sun

description: The response of human skin to sun exposure.


A chiral mycolic acid analogue comprising 3-hydroxypropanoic acid having a tetracosanyl group at position 2 and a further long-chain alkyl group containing cyclopropyl and methoxy functions attached at position 3.


acromelanosis

description: Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.


name: temperature-sensitive oculocutaneous albinism type 1

description: Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).


name: hyperpigmentation, progressive cribriform and zosteriform


description: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.


Griscelli syndrome type 3

description: A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.


description: Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.


name: minimal pigment oculocutaneous albinism type 1

description: Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.


familial generalized lentiginosis

description: Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.


name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


name: deaf blind hypopigmentation syndrome, Yemenite type

description: Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.


name: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

description: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.


Tietz syndrome

description: Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


reticulate acropigmentation of Kitamura

description: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.


oculocutaneous albinism type 6

description: A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.


Dowling-Degos disease 2

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


albinism-hearing loss syndrome

description: A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.


Hermansky-Pudlak syndrome 5

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

description: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


Hermansky-Pudlak syndrome 7

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


Hermansky-Pudlak syndrome 9

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.


Dowling-Degos disease 4

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


oculocutaneous albinism type 7

description: Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


oculocutaneous albinism type 5

description: Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.


name: dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.


Griscelli syndrome

description: Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


Griscelli syndrome type 1

description: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.


description: Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.


name: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


Hermansky-Pudlak syndrome 10

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.


name: osteopathia striata-pigmentary dermopathy-white forelock syndrome

description: Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.


name: autosomal dominant oculocutaneous albinism

description: Autosomal dominant form of oculocutaneous albinism.


name: piebald trait-neurologic defects syndrome

description: Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.


name: oculocerebral hypopigmentation syndrome, Cross type

description: Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.


Hermansky-Pudlak syndrome 3

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


name: deafness, congenital, with total albinism


name: dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

description: A oculocutaneous albinism that is part of a larger syndrome.


name: hyperpigmentation with or without hypopigmentation, familial progressive


familial progressive hyperpigmentation

description: Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.


name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

description: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.


oculocutaneous albinism type 1A

description: Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.


name: dyschromatosis universalis hereditaria 3

description: Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.


name: familial progressive hyper- and hypopigmentation

description: Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.


description: Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.


dyschromatosis symmetrica hereditaria

description: Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.


Ito hypomelanosis

description: Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.


Dowling-Degos disease 1

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.


name: microcephaly 9, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.


Hematopoietic System Finding

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

description: Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system.


Platelet Count Less Than 150x10^9/L

description: A semiquantitative hemocytometry finding indicating the presence of less than 150 billion platelets per liter of blood.


Eosinophilopenia

description: Abnormally low level of eosinophils in the blood.


Bone Marrow Basophilia

description: A finding indicating abnormally high levels of basophils in a bone marrow sample.


Normoblastic Erythroid Hyperplasia

description: A laboratory test result indicating an abnormally high quantity of immature red blood cells containing hemoglobin and a pyknotic nucleus.


Mild to Moderate Anisopoikilocytosis

description: A test result indicating a mild to moderate degree of anisopoikilocytosis in the peripheral blood.


Febrile Neutropenia

description: Neutropenia associated with fever, the latter indicating the presence of an infection.


leukemoid reaction

description: A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.


Chronic idiopathic neutropenia

description: A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.


Lymphopenia

description: An abnormally small number of lymphocytes in the circulating blood.


Platelet Count 50000

description: Indicates a platelet count of at least 50,000 per cubic millimeter.


Neonatal neutropenia (disorder)

description: A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn.


Platelet Count 20000

description: Indicates a platelet count of at least 20,000 per cubic millimeter.


Peripheral Blood Basophilia

description: A finding indicating abnormally high levels of basophils in a peripheral blood sample.


Abnormal Hematology Test Result

description: A laboratory test result that indicates the presence of abnormal peripheral blood and/or bone marrow values.


Benign ethnic neutropenia

description: Chronic neutropenia in the absence of secondary causes, other cytopenia, splenomegaly, lymphadenopathy, or increased risk of infection. It occurs more frequently in individuals of African, Middle Eastern, and West Indian descent.


Bone Marrow Test Result

description: The results of a bone marrow test.


Chemotherapy Related Agranulocytosis

description: Agranulocytosis that occurs with chemotherapy.


Basophilopenia

description: Abnormally low level of basophils in the blood.


Pancytopenia caused by medication

description: Pancytopenia caused by exposure to certain drugs.


Autoimmune cytopenia

description: Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets.


Cytopenia

description: A laboratory test result indicating an abnormally low quantity of circulating blood cells.


Horner syndrome, horse

description: Horner syndrome that occurs in horse.


fatty acyl-CoA reductase 1 upregulation

description: A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


fatty acyl-CoA reductase defects

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


phosphatidylcholine O-42:5

An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 5 double bonds.


A 3-oxo Delta(4)-steroid that is estr-4-ene substituted by a beta-hydroxy group at position 17 and an alpha-methyl group at position 2.


Cicatrix, Hypertrophic

description: A permanent mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It is elevated and does not extend beyond the original boundaries of the wound; the elevation may stabilize or regress spontaneously.


age related macular degeneration 4

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


age related macular degeneration 13

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


name: Mixed phenotype acute leukemia T/myeloid

description: A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable.


bromoarene

A compound derived from an arene by replacing a hydrogen atom with a bromine atom.


name: Stage M1 Embryonal Tumor with Multilayered Rosettes

description: Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


renal dysplasia, dog

description: Renal dysplasia that occurs in dog.


name: Prostate Acinar Adenocarcinoma, Atrophic Pattern

description: An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.


phosphatidylglycerol 37:0

A phosphatidylglycerol in which the two acyl groups contain 37 carbon atoms and no double bonds


N-(1,2-saturated acyl)sphinganine

Any dihydroceramide having a methylene group adjacent to the ceramide carbonyl group.


name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

description: Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


Prostate cancer stage C

description: Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.


(S)-metamifop

A 2-{4-[(6-chloro-1,3-benzoxazol-2-yl)oxy]phenoxy}-N-(2-fluorophenyl)-N-methylpropanamide that has S-configuration.


A member of the class of 1,3-benzoxazoles that is 6-chloro-1,3-benzoxazol-2-ol in which the hydrogen of the hydroxy group at position 2 is substituted by a 4-({1-[(2-fluorophenyl)(methyl)amino]-1-oxopropan-2-yl}oxy)phenyl group.


metamifop

A 2-{4-[(6-chloro-1,3-benzoxazol-2-yl)oxy]phenoxy}-N-(2-fluorophenyl)-N-methylpropanamide that has R-configuration. It is an inhibitor of acetyl-coenzyme A carboxylase (ACCase) and a postemergence herbicide which exhibits high control efficacy against sensitive weeds, especially Echinochloa crus-galli in paddy fields.


N,O-dioleoylethanolamine

A fatty acid ester obtained by formal condensation of the carboxy group of oleic acid with the hydroxy group of oleoyl ethanolamide.


name: non-severe combined immunodeficiency due to polymerase delta deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


perichondritis of auricle

description: An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.


name: congenital corneal opacities, cornea guttata, and corectopia


tympanic membrane disorder

description: A disease involving the tympanic membrane.


chronic eustachian salpingitis

description: Chronic form of otosalpingitis.


acute perichondritis of pinna

description: Acute form of perichondritis of auricle.


acute infection of pinna

description: An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.


benign neoplasm of middle ear

description: A benign neoplasm that involves the middle ear.


external ear neoplasm

description: A neoplasm (disease) that involves the external ear.


cholesteatoma of external ear

description: A cholesteatoma (disease) that involves the external ear.


polyp of middle ear

description: A benign polypoid growth in the middle ear.


acute eustachian salpingitis

description: Acute form of otosalpingitis.


chronic fungal otitis externa

description: Chronic form of otomycosis.


external ear lipoma

description: A benign adipose tissue neoplasm of the external ear.


name: chronic tubotympanic suppurative otitis media

description: A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.


chronic tympanitis

description: Chronic form of tympanitis.


acute allergic mucoid otitis media

description: A blue drum syndrome caused by an allergen.


benign neoplasm of ear

description: A benign neoplasm that involves the ear.


myringitis bullosa hemorrhagica

description: A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.


name: active cochleovestibular Meniere disease


acute sanguinous otitis media

description: A acute transudative otitis media which involves bloody effusion.


middle ear cancer

description: A malignant neoplasm involving the middle ear


middle ear neuroendocrine tumor

description: A neuroendocrine neoplasm that involves the middle ear.


noxacusis

description: Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).


inner ear cancer

description: A malignant neoplasm involving the internal ear.


chronic perichondritis of pinna

description: Chronic form of perichondritis of auricle.


chronic non-suppurative otitis media

description: Chronic form of non-suppurative otitis media.


internal auditory canal lipoma

description: A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.


non-suppurative otitis media

description: A otitis media which involves transudation of fluid in the middle ear without pus formation.


internal auditory canal meningioma

description: A meningioma that affects the internal auditory canal.


patulous eustachian tube

description: A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.


acute serous otitis media

description: A acute transudative otitis media with thin, watery and sterile effusion.


polyp of external auditory canal

description: A polyp that involves the external acoustic meatus.


acute allergic sanguinous otitis media

description: A acute sanguinous otitis media caused by an allergen.


external ear cancer

description: A malignant neoplasm involving the external ear.


otosalpingitis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.


name: X-linked mixed hearing loss with perilymphatic gusher

description: X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.


cholesteatoma of attic

description: A cholesteatoma in the attic


purulent acute otitis media

description: Acute form of suppurative otitis media.


blue drum syndrome

description: A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.


cochlear disorder

description: Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).


acute allergic serous otitis media

description: A acute serous otitis media caused by an allergen.


chronic atticoantral disease

description: A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.


name: malignant otitis externa caused by Pseudomonas aeruginosa

description: An malignant otitis externa caused by infection with Pseudomonas aeruginosa.


phacolytic glaucoma

description: An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.


EPIDIHYDROCHOLESTERIN

A 5alpha-chloestane compound having a 3alpha-hydroxy substituent.


Colorectal Traditional Serrated Adenoma

description: An adenoma that arises from the colon or rectum.  It is characterized by prominent serration of the glands.


Colon Traditional Serrated Adenoma

description: An adenoma that arises from the colon.  It is characterized by prominent serration of the glands.


Colorectal Filiform Serrated Adenoma

description: A traditional serrated adenoma that arises from the colon or rectum.  It is characterized by the presence of prominent villous projections of the neoplastic epithelium.


name: hyperuricemic nephropathy, familial juvenile type 4

description: Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.


A ceramide that is the N-tetracosanoyl derivative of 4-hydroxyeicosasphinganine.


A trivalent inorganic anion obtained by removal of three protons from orthoperiodic acid


iodite

A monovalent inorganic anion obtained by deprotonation of iodous acid.


bromite

A monovalent inorganic anion obtained by deprotonation of bromous acid.


A monovalent inorganic anion obtained by deprotonation of one of the six OH groups in orthoperiodic acid  acid.


hypoiodite

A monovalent inorganic anion obtained by deprotonation of hypoiodous acid.


A divalent inorganic anion obtained by removal of two of the five protons from orthoperiodic acid


perbromate

A monovalent inorganic anion obtained by deprotonation of perbromic acid.


hypofluorite

A monovalent inorganic anion obtained by deprotonation of hypofluorous acid.


A monovalent inorganic anion obtained by deprotonation of fluorous acid.


hypobromite

A monovalent inorganic anion obtained by deprotonation of hypobromous acid.


myofibrillar myopathy 3

description: A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.


methyl 3,5-di-O-caffeoyl quinate

A methyl ester resulting from the formal condensation of the carboxy group of 3,5-di-O-caffeoyl quinic acid with methanol. Isolated from Suaeda glauca and Dichrocephala bicolor, it exhibits hepatoprotective activity.


Penile Glomus Tumor

description: A glomus tumor that occurs in the penis.


Bone Glomus Tumor

description: A benign or malignant glomus tumor arising from the bone.


name: Glomus tumor of uncertain malignant potential

description: A glomus tumor that shows atypical characteristics and has borderline malignant potential.


Solid Glomus Tumor

description: The most common morphologic variant of glomus tumor.  It is characterized by the presence of a nest of glomus cells surrounding capillary sized vessels.


Benign Glomus Tumor

description: A glomus tumor of small size characterized by the absence of nuclear atypia and mitotic activity.


Gastric Glomus Tumor

description: A rare glomus tumor that arises from the stomach.  It is seen in adults, especially women.  The majority of cases follow a benign clinical course.


glomuvenous malformation

description: Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.


peroxisome biogenesis disorder type 3B

description: A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.


Stage IVA Ovarian Cancer AJCC v8

description: Stage IVA includes: Any T, Any N, M1a. M1a: Ovarian cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


Stage IV Ovarian Cancer AJCC v8

description: Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


Stage IVB Ovarian Cancer AJCC v8

description: Stage IVB includes: Any T, Any N, M1b. M1b: Ovarian cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


smallpox

description: A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.


Modified smallpox

description: Smallpox that occurs in an individual who has been vaccinated.


name: Testicular Germ Cell Neoplasia In Situ with Extratubular Extension

description: A malignant neoplasm that arises from the testis and is characterized by the presence of large germ cells with abundant cytoplasm in the seminiferous tubules, associated with an invasive germ cell tumor in the adjacent tissues.


trisomy 9p

description: Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.


A very long-chain omega-6 fatty acid that is triacontanoic acid having four double bonds located at positions 15, 18, 21 and 24 (the 15Z,18Z,21Z,24Z-isomer).


N-acetyl-D-hexosamine

Any N-acetylhexosamine in which the hexosamine has D-configuration. The structure provided is an illustrative example of the pyranose form of an N-acetyl-D-hexosamine.


N-acetyl-D-galactosamine

The D-enantiomer of N-acetylgalactosamine.


N-Acetylglucosamine

An N-acetyl-D-glucosamine having beta-configuration at the anomeric centre.


N-acetyl-beta-D-mannosamine

An N-acetyl-D-mannosamine having beta-configuration at its anomeric centre.


N-ACETYLMANNOSAMINE

An N-acetylmannosamine having pyranose form and alpha-D-configuration.


Head and Neck Rhabdomyosarcoma

description: A malignant neoplasm with skeletal muscle differentiation that arises from the head and neck. It usually affects the orbit, eyelid, ear, sinonasal tract, and nasopharynx.


orbit alveolar rhabdomyosarcoma

description: A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.


Sinonasal Rhabdomyosarcoma

description: A rhabdomyosarcoma that arises from the nasal cavity and paranasal sinuses.


orbit rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.


Advanced Rectal Squamous Cell Carcinoma

description: Rectal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Metastatic Rectal Squamous Cell Carcinoma

description: Rectal squamous cell carcinoma that has spread from the original site of growth to other anatomic sites.


name: Locally Advanced Rectal Squamous Cell Carcinoma

description: Rectal squamous cell carcinoma that has spread to nearby tissues or lymph nodes.


Hormonal Change

description: A finding indicating a deficiency or excess of one or more hormones.


tetradecanoyl-AMP

A fatty acyl-AMP that results from the formal condensation of the phosphoryl group of AMP with the carboxyl group of tetradecanoic (myristic) acid.


Early menarche

description: Occurrence of the first menstrual period in a female before the usual or expected age.


Isolated Premature Menarche

description: Occurrence of the first menstrual period in a girl before the lower limit of the normal age range for the reference population, without other signs of puberty.


irregular menstruation (diagnosis)

description: Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.


Hypomenorrhea

description: Decreased menstrual blood flow.


N-(3-oxohexanoyl)homoserine lactone

A N-acyl homoserine lactone that is the monocarboxylic acid amide resulting from the formal condensation of the carboxy group of 3-oxohexanoic acid with the amino group of homoserine lactone.


campomelic dysplasia

description: Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).


name: qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan


name: autosomal recessive limb-girdle muscular dystrophy type 2U

description: Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.


name: qualitative or quantitative defects of FKRP


name: qualitative or quantitative defects of protein O-mannosyltransferase 2


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.


myopathy caused by variation in POMT2

description: Any myopathy in which the cause of the disease is a variation in the POMT2 gene.


name: limb-girdle muscular dystrophy due to POMK deficiency

description: Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.


myopathy caused by variation in CRPPA

description: Any myopathy in which the cause of the disease is a variation in the CRPPA gene.


myopathy caused by variation in POMT1

description: Any myopathy in which the cause of the disease is a variation in the POMT1 gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


name: qualitative or quantitative defects of protein O-mannosyltransferase 1