iodotyrosine deiodinase 1 isoform h4 (human)

An iodotyrosine deiodinase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6PHW0-4.


anemia due to erythrocyte enzyme disorder

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

Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.


Any aldopentose where the open-chain form has all the hydroxy groups on the same side in the Fischer projection. Occurrs in two enantiomeric forms, D- and L-ribose, of which only the former is found in nature.


Nitrofurantoin

An imidazolidine-2,4-dione that is hydantoin substituted at position 1 by a [(5-nitro-2-furyl)methylene]amino group. An antibiotic that damages bacterial DNA.


Levamlodipine

The (4S)-enantiomer of amlodipine.


Proton

Nuclear particle of charge number +1, spin 1/2 and rest mass of 1.007276470(12) u.


Nucleus of the (3)H atom.


atomic nucleus

A nucleus is the positively charged central portion of an atom, excluding the orbital electrons.


Deuteron

Nucleus of the (2)H atom.


phosphatidylglycerol 34:2

A phosphatidylglycerol in which the two acyl groups contain a total of 34 carbon atoms and 2 double bonds.


phosphatidylglycerol (18:2/16:0)

A phosphatidylglycerol 34:2 in which the 1- and 2-acyl groups are specified as octadecadienoyl and hexadecanoyl respectively.


A hydrochloride salt resulting from the formal reaction of 3-[(3-chlorophenoxy)methyl]-1-(tetrahydro-2H-pyran-4-yl)-1H-pyrazolo[3,4-d]pyrimidin-4-amine with 2 mol eq. of hydrogen chloride. It is a selective inhibitor of the delta- and epsilon-isoforms of casein kinase 1 (CK1delta and CK1epsilon).


A 4-formylzymosterol in which the formyl group at position 4 has alpha-configuration.


Zymosterol intermediate 1b

A 3beta-sterol that is zymosterol which carries a formyl group at position 4.


polyamino carboxylic acid

An amino acid containing one or more nitrogen atoms connected through carbon atoms to one or more carboxy groups.


An imidazolidine-2,4-dione substituted by a hydroxymethyl group at position 1 and two methyl groups at position 5. It is approved by the FDA for use as an adjuvant in the bleaching of recycled paper and board used in food packaging, and is also a decomposition product of DMDM hydantoin, a preservative and antimicrobial agent used in cosmetics and personal care products.


(+)-Ethotoin

The (S)-enantiomer of ethotoin.


4-[(2,4-Dioxo-1,3-diazaspiro[4.5]decan-3-yl)methyl]benzoic acid methyl ester


A imidazolidine-2,4-dione that is hydantoin substituted by a 2-carboxyethyl group at position 4.


A 1,3-oxazole which is substituted by a [(2,4-dioxoimidazolidin-1-yl)imino]methyl group at position 2 and a 4-bromophenyl group at position 5. It is a muscle relaxant used for the treatment/prevention of malignant hyperthermia.


(-)-Ethotoin

The (R)-enantiomer of ethotoin.


An imidazolidine-2,4-dione substituted by a 4-hydroxybutyl group at position 5.


D-5-monosubstituted hydantoin

Any imidazolidine-2,4-dione that bears a single substituent at position 5 and has D-configuration.


A 7-[3-(3-cyclohexyl-3-hydroxypropyl)-2,5-dioxoimidazolidin-4-yl]heptanoic acid that is the (3R,4S)-enantiomer of BW 245C.


Methionine hydantoin

A D-5-monosubstituted hydantoin in which the substituent is specified as 2-(methylthio)ethyl.


Nifurtoinol

An imidazolidine-2,4-dione that is hydantoin substituted at position 1 by a [(5-nitro-2-furyl)methylene]amino group and at position 3 by a hydroxymethyl group.


Iprodione

An imidazolidine-2,4-dione in which the nitrogen at position 1 is substituted by an N-(isopropyl)carboxamide group while that at position 3 is substituted by a 3,5-dichlorophenyl group. A contact fungicide, it blocks the growth of the fungal mycelium and inhibits the germination of fungal spores. It is used on fruit and vegetable crops affected by various fungal diseases. It is also used as a nematicide.


A imidazolidine-2,4-dione that is 7-(2,5-dioxoimidazolidin-4-yl)heptanoic acid in which the imidazoline ring as substituted at position 3 by a 3-(3-cyclohexyl-3-hydroxypropyl) group.


A D-5-monosubstituted hydantoin that is  imidazolidine-2,4-dione in which the pro-R hydrogen at position 5 has been replaced by a phenyl group.


Mephenytoin

An imidazolidine-2,4-dione (hydantoin) in which the imidazolidine nucleus carries a methyl group at N-3 and has ethyl and phenyl substituents at C-5. An anticonvulsant, it is no longer available in the USA or the UK but is still studied largely because of its interesting hydroxylation polymorphism.


A carboxamide resulting from the formal condensation of the primary amino group of 4-propanoyl-1,3-thiazol-2-amine with the carboxy group of a 3-phenylbutiyric acid which has been substituted at position 2 by a (4R)-4-[p-(2-hydroxyethoxy)phenyl]-2,5-dioxoimidazolidin-1-yl group. It is a potent, highly selective inhibitormitogen-activated protein kinase 1/2 inhibitor.


2-[4-[4-(Difluoromethoxy)phenyl]-4-methyl-2,5-dioxo-1-imidazolidinyl]acetic acid ethyl ester


A 7-[3-(3-cyclohexyl-3-hydroxypropyl)-2,5-dioxoimidazolidin-4-yl]heptanoic acid that is the (3S,4R)-enantiomer of BW 245C.


imidazolidinone

An imidazolidine containing one or more oxo groups.


(S)-(+)-allantoin

An optically active form of allantoin having (S)-(+)-configuration.


An imidazolidine-2,4-dione having a carboxymethyl group at the 5-position.


An imidazolidine-2,4-dione that is hydantoin substituted at position 1 by a [3-(5-nitro-2-furyl)prop-2-en-1-ylidene]amino group (the configuration of the C=C and C=N bonds in the grouping that links the two heterocycles is not specified). A nitrofuran antibiotic with properties similar to nitrofurantoin, furagin is used in the treatment of urinary tract infections.


Allantoin, (-)-

An optically active form of allantoin having (R)-(-)-configuration.


An imidazolidine-2,4-dione that is  hydantoin substituted by a hydroxy group at position 5.


The hydrochloride salt of alosetron.


An N-acylethanolamine resulting from the formal condensation of the carboxy group of any monounsaturated fatty acid with the amino group of ethanolamine.


N-acylethanolamine 18:1

An N-acylethanolamine in which the acyl group contains 18 carbons and 1 double bond.


androstane ester

Any steroid ester based on an androstane skeleton.


An androstane sulfate that is 5alpha-androstan-3alpha,17beta-diol in which the hydroxy hydrogen at position 17 has been replaced by a sulfo group.


androstane sulfate

Any steroid sulfate based on an androstane skeleton.


An androstane sulfate that is 5alpha-androstan-3beta,17beta-diol in which the hydroxy hydrogen at position 17 has been replaced by a sulfo group.


ovarian lymphoma

A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.


benzenetriol

A triol in which three hydroxy groups are substituted onto a benzene ring.


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.


A steroid sulfate that is 2-hydroxy-17beta-estradiol in which the phenolic hydrogen at position 3 has been replaced by a sulfo group.


(24S)-hydroxycholesterol 24-sulfate

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


A steroid sulfate obtained by the formal condensation of sulfuric acid with the 3-hydroxy group of 17beta-estradiol.


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


(24S)-hydroxycholesterol 3-sulfate

A steroid sulfate that is (24S)-24-hydroxycholesterol carrying a single sulfo substituent at the O-3 position.


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


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.


Glycodeoxycholic acid sulfate

A bile acid glycine conjugate that is glycodeoxycholic acid in which the hydroxy hydrogen at position 3 has been replaced by a sulfo group.


Estradiol 17-sulfate

A steroid sulfate obtained by the formal condensation of sulfuric acid with the 17-hydroxy group of 17beta-estradiol.


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.


17-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.


chlorocycloalkane

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


chlorocyclohexane

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


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.


(R)-Dobutamine

The (R)-enantiomer of dobutamine.


enamine

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


The (S)-enantiomer of amfepramone.


secondary amine

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


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.


aralkylamine

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


Levdobutamine

The (S)-enantiomer of dobutamine.


Methoxyphenamine hydrochloride

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


(R)-Clenbuterol

The (R)-enantiomer of clenbuterol.


amino fatty acid

A fatty acid containing at least one amino substituent.


Levamfetamine

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


omega-amino fatty acid

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


amphetamines

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


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.


The (R)-enantiomer of 1-phenylethanamine.


tertiary amine

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


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.


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


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


Decanoic acid, 1-(hydroxymethyl)-2-((1-oxooctyl)oxy)ethyl ester


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.


dioleoylglycerol

A diglyceride in which both groups are oleoyl with their positions of acylation unspecified. Formula C39H72O5. For the structure shown, either R1 = H and R2 = oleoyl or R1 = oleoyl and R2 = H.


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


diacylglycerol (18:1/18:2/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C18:2 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.


diacylglycerol (16:0/18:1/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C20:1 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 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.


diacylglycerol (18:0/18:1/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C18:1 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 (16:0/20:1/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C18:1 respectively.


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.


diacylglycerol (18:0/22:6/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C22:6 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-diglyceride where linoleoyl and oleoyl are the two acyl groups.


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


dioctanoylglycerol

A diglyceride obtained by acylation of any two hydroxy groups of glycerol by octanoic acid. Formula C19H36O5. For the structure shown, either R1 = H and R2 = octanoyl or R1 = octanoyl and R2 = H.


diacylglycerol (18:0/20:3/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C20:3 respectively.


diacylglycerol 30:0

A diglyceride in which the two acyl groups contain a total of 30 carbons and 0 double bonds.


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


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 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.


diacylglycerol 40:0

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


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.


rac 1-Oleoyl-3-linoleoylglycerol

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


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.


diacylglycerol (18:1/20:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C20:4 respectively.


diacylglycerol (16:0/22:6/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C22:6 respectively.


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


diacylglycerol (18:1/0:0/18:1)

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


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.


diacylglycerol (18:0/20:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C20:4 respectively.


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.


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


diacylglycerol 28:1

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


Butanoic acid, diester with 1,2,3-propanetriol

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.


1,2-Dimyristin, (R)-

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.


Glyceryl 1,3-dipalmitate

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.


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


diacylglycerol 42:10

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


diacylglycerol (16:0/22:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C22:4 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.


diacylglycerol (18:0/22:5/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C22:5 respectively.


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.


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-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.


diacylglycerol (16:0/20:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C20:4 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.


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.


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 where octanoyl and oleoyl form the 1- and 2-acyl groups respectively.


diacylglycerol (18:0/22:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C22:4 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 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 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 1,3-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 diacylglycerol 40:4 in which the acyl groups at positions 1 and 2 are icosanoyl and (5Z,8Z,11Z,14Z)-icosatetraenoyl respectively.


diacylglycerol (18:1/22:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C22:4 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 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.


N-(1,2-saturated acyl)sphinganine

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


Epidihydrocholesterin

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


Stage IVA Ovarian Cancer AJCC v8

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

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

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.)


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.


An N-acetyl-D-glucosamine that has alpha-configuration at the anomeric centre.


N-ACETYL-beta-D-GLUCOSAMINE

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


N-Acetyl-D-Mannosamine

An N-acetylmannosamine having D-configuration.


Advanced Rectal Squamous Cell Carcinoma

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


Metastatic Rectal Squamous Cell Carcinoma

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


Locally Advanced Rectal Squamous Cell Carcinoma

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


A 3-oxo Delta(4)-steroid that is 3-oxochol-4-en-24-oic acid carrying an additional 7alpha-hydroxy substituent.


7-Oxoglycochenodeoxycholic acid

A bile acid glycine conjugate that is glycolithocholic acid carrying an additional oxo substituent at postion 7.


bile acid taurine conjugate

A bile acid conjugate resulting from the formal condensation of a bile acid with the amino group of taurine.


3alpha,7alpha,15beta-Trihydroxy-5beta-cholane-24-oic acid methyl ester


A 3-oxo-5beta-steroid that is 7-deoxycholic acid in which the hydroxy group at position 3 has undergone formal oxidation to the corresponding ketone.


allo-bile acid

Any member of the class of bile acids having 5alpha-configuration. Usually found in lower vertebrates.


Tauro-beta-muricholic acid

A bile acid taurine conjugate derived from beta-muricholic acid.


A synthetic cholanoid that is a sulfonic acid analogue of chenodeoxycholic acid.


A bile acid glycine conjugate that is glycodeoxycholic acid carrying an additional oxo substituent at position 7.


bile acid glycine conjugate

Amide of a bile acid with glycine.


5beta-cholanic acids

Members of the class of cholanic acids based on a 5beta-cholane skeleton.


A dihydroxy-5beta-cholanic acid with hydroxy groups located at positions 3beta and 6beta.


An oxo-5beta-cholanic acid that is ursodeoxycholic acid carrying an additional oxo substituent at position 12.


An oxo-5beta-cholanic acid in which two oxo substituents are located at positions 3 and 12 together with a hydroxy substituent at position 7beta.


hydroxy-5beta-cholanic acid

Any member of the class of 5beta-cholanic acids carrying at least one hydroxy group at unspecified position.


bile acid conjugate

Any bile acid conjugated to a functional group that gives additional hydrophilicity or charge to the molecule. Molecules used for conjugation are: glycine, taurine (and other amino acids); sulfuric acid (for which the term ''sulfate'' may be used); glucuronic acid (for which the term ''glucuronate'' may be used); glucose and other uncharged sugars; and coenzyme A.


3-Hydroxy-7,12-diketocholanoic acid

A bile acid that is lithocholic acid carrying two additional oxo substituents at positions 7 and 12.


3alpha,7alpha,15alpha-Trihydroxy-5beta-cholane-24-oic acid methyl ester


dihydroxy-5beta-cholanic acid

A hydroxy-5beta-cholanic acid carrying two hydroxy groups at unspecified positions.


A bile acid that is lithocholic acid carrying an additional oxo substituent at position 7.


A bile acid that is 5alpha-cholan-24-oic acid carrying an oxo group at position 3 and a hydroxy group at position 7beta.


A dihydroxy-5beta-cholanic acid that is deoxycholic acid with a double bond at position 6.


Obeticholic acid

A dihydroxy-5beta-cholanic acid that is chenodeoxycholic acid carrying an additional ethyl substituent at the 6alpha-position. A semi-synthetic bile acid which acts as a farnesoid X receptor agonist and is used for treatment of primary biliary cholangitis.


A C27 bile acid that is 5beta-cholest-24-en-26-oic acid substituted by hydroxy groups at positions 3alpha and 7beta.


bile acid

Any member of a group of hydroxy-5beta-cholanic acids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration.


A bile acid taurine conjugate derived from 7-oxodeoxycholic acid.


Ethanesulfonic acid, 2-(((3alpha,5beta,7alpha)-3-hydroxy-24-oxo-7-(sulfooxy)cholan-24-yl)amino)-, disodium salt


1beta-Hydroxydeoxycholic acid

A trihydroxy-5beta-cholanic acid in which the three hydroxy groups are located at positions 1beta, 3alpha, and 12alpha.


bile acids

Any member of a group of hydroxy steroids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration, while in lower vertebrates, some bile acids, known as allo-bile acids, have 5alpha-configuration.


dihydroxycholanic acid

Any member of the class of cholanic acids carrying two hydroxy substituents at unspecified positions.


A bile acid taurine conjugate derived from 7-oxolithocholic acid.


Cervical Warty Carcinoma

A human papillomavirus-related cervical squamous cell carcinoma characterized by the presence of a warty surface and koilocytotic atypia.


Stage IIIC Ovarian Cancer

Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIIB Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIIB includes: T3b, N0, M0. T3b: Macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIB Ovarian Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Ovarian cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIIA Ovarian Cancer AJCC v6 and v7

Stage IIIA includes: T3a, N0, M0.  T3a: Microscopic peritoneal metastasis beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Recurrent Malignant Ovarian Brenner Tumor

The reemergence of malignant ovarian Brenner tumor after a period of remission.


Stage IC Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IC includes: (T1c, N0, M0).  T1c: Tumor limited to one or both ovaries with any of the following: capsule ruptured, tumor on ovarian surface, malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


FIGO Stage IIIA2 Ovarian Cancer

Ovarian cancer with microscopic, extrapelvic (above the brim) peritoneal involvement +/- positive retroperitoneal lymph nodes. (FIGO, 2014)


Ovarian Neuroendocrine Carcinoma

A small cell carcinoma, pulmonary-type or large cell neuroendocrine carcinoma arising from the ovary.


Stage IV Ovarian Embryonal Carcinoma AJCC v6 and v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


Stage IV Ovarian Cancer AJCC v6 and v7

Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


Metastatic Ovarian Clear Cell Adenocarcinoma

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


Stage IIB Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIB includes: T2b N0, M0. T2b: Extension and/or implants on other pelvic tissues. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


FIGO Stage IVA Ovarian Cancer

Ovarian cancer with pleural effusion with positive cytology. (FIGO, 2014)


Recurrent Ovarian Transitional Cell Carcinoma

The reemergence of ovarian transitional cell carcinoma after a period of remission.


Stage IIIC Ovarian Cancer AJCC v8

Stage IIIC includes: T3c, N0/N1, M0. T3c: Ovarian cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Ovarian Mixed Cell Adenocarcinoma

An adenocarcinoma that arises from the ovary and is characterized by the presence of two or more adenocarcinoma components, most often endometrioid and clear cell.


Locally Advanced Ovarian Carcinoma

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


Recurrent Ovarian Undifferentiated Carcinoma

The reemergence of ovarian undifferentiated carcinoma after a period of remission.


Metastatic Ovarian Carcinosarcoma

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


Stage I Ovarian Germ Cell Tumor AJCC v6 and v7

Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


malignant sex cord stromal tumor of ovary

Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.


Stage IIIB Ovarian Cancer AJCC v8

Stage IIIB includes: T3b, N0/N1, M0. T3b: Ovarian cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Refractory Ovarian Clear Cell Adenocarcinoma

Ovarian clear cell adenocarcinoma that is resistant to treatment.


Stage IIA Ovarian Cancer AJCC V6 and v7

Stage IIA includes: T2a, N0, M0.  T2a: Extension and/or implants on uterus and/or tube(s). No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


non-gestational ovarian choriocarcinoma

A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.


Stage IB Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IB includes: (T1b, N0, M0). T1b: Tumor limited to both ovaries; capsules intact, no tumor on ovarian surface.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


FIGO Stage IIIA1(i) Ovarian Cancer

Ovarian cancer with positive retroperitoneal lymph nodes only. Metastasis equal or less than 10 mm. (FIGO, 2014)


malignant non-dysgerminomatous germ cell tumor of ovary

A malignant germ cell tumor other than dysgerminoma that arises from the ovary.


Malignant Ovarian Luteinized Thecoma

A thecoma of the ovary that contains lutein cells and may metastasize to other anatomic sites. It is usually characterized by nuclear atypia and mitotic activity.


ovarian angiosarcoma

A malignant vascular neoplasm arising from the ovary.


Stage II Ovarian Polyembryoma AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIIA Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIIA includes: T3a, N0, M0. T3a: Microscopic peritoneal metastasis beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Recurrent Ovarian Carcinosarcoma

The reemergence of ovarian carcinosarcoma after a period of remission.


Ovarian germ cell choriocarcinoma stage II


Recurrent BRCA- Associated Ovarian Carcinoma

The reemergence of BRCA-associated ovarian carcinoma after a period of remission.


Stage IIIB Ovarian Cancer AJCC v6 and v7

Stage IIIB includes: T3b, N0, M0.  T3b: Macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Refractory Extrarenal Rhabdoid Tumor of the Ovary

An extrarenal rhabdoid tumor of the ovary that is resistant to treatment.


Refractory Ovarian Squamous Cell Carcinoma

Ovarian squamous cell carcinoma that is resistant to treatment.


ovarian adenosarcoma

A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.


Stage IV Ovarian Polyembryoma AJCC v6 and v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


Ovarian germ cell choriocarcinoma stage I

Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor

A Sertoli-Leydig tumor of the ovary characterized by the presence of a sarcomatoid stroma which contains primitive gonadal stromal cells. It may behave in a malignant fashion and metastasize to other anatomic sites.


Malignant Ovarian Thecoma

A thecoma of the ovary which may metastasize to another anatomic site. It is usually characterized by nuclear atypia and mitotic activity. Malignant thecomas are rare.


Ovarian Cancer by AJCC v8 Stage

A term that refers to the staging of ovarian cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to ovarian carcinomas. Nonepithelial primary ovarian cancers may be staged using this classification but should be reported separately. (from AJCC 8th Ed.)


Stage I Ovarian Dysgerminoma AJCC v6 and v7

Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


Recurrent Ovarian Adenocarcinoma

The reemergence of ovarian adenocarcinoma after a period of remission.


Ovarian Low Grade Endometrioid Stromal Sarcoma

A rare invasive mesenchymal tumor that arises from the ovary.  It is characterized by the absence of marked pleomorphism and nuclear atypia in the neoplastic mesenchymal cells.  It may have a favorable clinical outcome.


Ovarian Mesonephric-Like Adenocarcinoma

An exceedingly rare adenocarcinoma that arises from the ovary and displays mesonephric differentiation. Some tumors are thought to derive from mesonephric duct (Wolffian duct) remnants. Others may have a Mullerian duct lineage.


Recurrent Malignant Ovarian Granulosa Cell Tumor

The reemergence of malignant ovarian granulosa cell tumor after a period of remission.


Refractory Ovarian Transitional Cell Carcinoma

Ovarian transitional cell carcinoma that is resistant to treatment.


Stage I Ovarian Cancer AJCC v6 and v7

Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


Ovarian cancer stage III

Stage III includes: T3, N0, M0.  T3: Tumor involves one or both ovaries with microscopically confirmed peritoneal metastasis outside pelvis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIA Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIA includes: T2a, N0, M0. T2a: Extension and/or implants on uterus and/or tube(s). No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


FIGO Stage IC1 Ovarian Cancer

Stage IC ovarian cancer with surgical spill. (FIGO, 2014)


ovarian primitive germ cell tumor

A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.


Ovarian Cancer by FIGO Stage

A category of staging terms for ovarian cancer according to the International Federation of Gynecology and Obstetrics (FIGO), 2014. AJCC ovarian cancer stage terms from the 6th and 7th editions that are synonymous to the FIGO ovarian cancer staging classification of 2014 are included as preferred terms.


Metastatic Ovarian Endometrioid Adenocarcinoma

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


Platinum-Refractory Ovarian Carcinoma

Ovarian carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.


liposarcoma of the ovary

A malignant adipose tissue neoplasm of the ovary.


FIGO Stage IIIC Ovarian Cancer

Ovarian cancer with macroscopic, extrapelvic, peritoneal metastasis greater than 2 cm +/- positive retroperitoneal lymph nodes. Includes extension to capsule of liver/spleen. (FIGO, 2014)


childhood choriocarcinoma of the ovary

A non-gestational choriocarcinoma that arises from the ovary and occurs in children.


Metastatic Ovarian Small Cell Carcinoma, Hypercalcemic Type

A primary small cell carcinoma of the ovary that is associated with hypercalcemia and has metastasized to other anatomic sites.


Stage III Ovarian Polyembryoma AJCC v6 and v7

Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Refractory Ovarian Adenocarcinoma

Ovarian adenocarcinoma that is resistant to treatment.


ovarian dysfunction

The inability of the ovaries to function.


Stage III Ovarian Dysgerminoma AJCC v6 and v7


Microsatellite Stable Ovarian Carcinoma

Ovarian carcinoma characterized by the absence of microsatellite instability.


Stage IC Ovarian Cancer AJCC v6 and v7

Stage IC includes: T1c, N0, M0. T1c: Tumor limited to one or both ovaries with any of the following: capsule ruptured, tumor on ovarian surface, malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Refractory Malignant Ovarian Brenner Tumor

Malignant ovarian Brenner tumor that is resistant to treatment.


Stage IIB Ovarian Cancer AJCC v6 and v7

Stage IIB includes: T2b N0, M0.  T2b: Extension and/or implants on other pelvic tissues.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IB Ovarian Cancer AJCC v6 and v7

Stage IB includes: T1b, N0, M0. T1b: Tumor limited to both ovaries; capsules intact, no tumor on ovarian surface.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Platinum-Sensitive Ovarian Carcinoma

Ovarian carcinoma that has a documented response to platinum-based chemotherapy.


Unresectable Ovarian Carcinoma

Ovarian carcinoma that is not amenable to surgical resection.


ovarian Wilms tumor

An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.


Recurrent Ovarian Cystadenocarcinoma

The reemergence of ovarian cystadenocarcinoma after a period of remission.


Stage II Ovarian Yolk Sac Tumor AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA Ovarian Cancer AJCC v8

Stage IA includes: T1a, N0, M0. T1a: Ovarian cancer with tumor limited to one ovary (capsule intact); no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Childhood Malignant Ovarian Germ Cell Tumor

A malignant germ cell tumor in children arising from the ovary.  It includes the dysgerminoma, yolk sac tumor, choriocarcinoma, embryonal carcinoma and immature teratoma.


Stage I Ovarian Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIIA Ovarian Cancer AJCC v8

Stage IIIA includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Malignant Ovarian Steroid Cell Tumor

A steroid tumor of the ovary which has an aggressive clinical course and metastasizes to other anatomic sites. It is usually of large size and is characterized by nuclear atypia, increased mitotic activity, hemorrhage, and necrosis. Sometimes, patients have abdominal metastases at presentation.


Unresectable Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma that is not amenable to surgical resection.


Recurrent ovarian cancer

The reemergence of ovarian carcinoma after a period of remission.


ovarian neuroendocrine neoplasm

An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


Refractory Ovarian Mucinous Adenocarcinoma

Ovarian mucinous adenocarcinoma that is resistant to treatment.


Ovarian Signet Ring Cell Carcinoma

An extremely rare adenocarcinoma that arises from the ovary. It is characterized by the presence of signet ring malignant epithelial cells.


Recurrent Ovarian Seromucinous Carcinoma

The reemergence of ovarian seromucinous carcinoma after a period of remission.


Stage IIC Ovarian Carcinoma

Stage IIC includes: T2c, N0, M0.  T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Recurrent Platinum-Resistant Ovarian Carcinoma

The reemergence of platinum-resistant ovarian carcinoma after a period of remission.


Recurrent Ovarian Germ Cell Tumor

The reemergence of ovarian germ cell tumor after a period of remission.


Stage IA Ovarian Cancer

Stage IA includes: T1a, N0, M0.  T1a: Tumor limited to one ovary; capsule intact, no tumor on ovarian surface.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Ovarian Cancer by AJCC v6 and v7 Stage

A category of staging terms for ovarian cancer according to the American Joint Committee on cancer (AJCC) 6th and 7th editions. International Federation of Gynecology and Obstetrics (FIGO) ovarian cancer staging terms prior to 2014 are included in this category if synonymous with the AJCC terms.


Stage II Ovarian Dysgerminoma AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Refractory Ovarian Undifferentiated Carcinoma

Ovarian undifferentiated carcinoma that is resistant to treatment.


Metastatic Ovarian Undifferentiated Carcinoma

Ovarian undifferentiated carcinoma that has spread from its original site of growth to another anatomic site.


Recurrent Ovarian Endometrioid Adenocarcinoma

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


Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


FIGO Stage IC2 Ovarian Cancer

Stage IC ovarian cancer with capsule rupture before surgery or tumor on ovarian surface. (FIGO, 2014)


ovary leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.


Metastatic Microsatellite Stable Ovarian Carcinoma

Microsatellite stable ovarian carcinoma that has spread from its original site of growth to another anatomic site.


FIGO Stage IC3 Ovarian Cancer

Stage IC ovarian cancer with malignant cells in the ascites or peritoneal washings. (FIGO, 2014)


Stage IV Ovarian Dysgerminoma AJCC v6 and v7


Stage IC Ovarian Cancer AJCC v8

Stage IC includes: T1c, N0, M0. T1c: Ovarian cancer with tumor limited to one or both ovaries, with any of the following: surgical spill, capsule ruptured before surgery or tumor on ovarian surface, or malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IA Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IA includes: (T1a, N0, M0). T1a: Tumor limited to one ovary; capsule intact, no tumor on ovarian surface.  No malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


Metastatic Platinum-Resistant Ovarian Carcinoma

Platinum-resistant ovarian carcinoma that has spread from its original site of growth to another anatomic site.


FIGO Stage IVB Ovarian Cancer

Ovarian cancer with hepatic and/or splenic parenchymal metastasis, metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside of the abdominal cavity). (FIGO, 2014)


Recurrent Ovarian Clear Cell Adenocarcinoma

The reemergence of ovarian clear cell adenocarcinoma after a period of remission.


Metastatic Ovarian Mucinous Adenocarcinoma

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


Stage IB Ovarian Cancer AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Ovarian cancer with tumor limited to one or both ovaries (capsules intact); no tumor on ovarian surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Refractory Ovarian Carcinoma

Ovarian carcinoma that is resistant to treatment.


Stage I Ovarian Polyembryoma AJCC v6 and v7

Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


ovarian melanoma

A melanoma (disease) that involves the ovary.


Refractory Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma that is resistant to treatment.


Ovarian Neuroectodermal-Type Tumor

A rare ovarian malignant tumor with neuroectodermal differentiation. It is characterized either by a small round cell proliferation or by neuronal or glial differentiation.


Ovarian epithelial cancer stage II

Stage II includes: T2, N0, M0.  T2: Tumor involves one or both ovaries with pelvic extension and/or implants.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


malignant germ cell tumor of ovary

Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.


Stage IV Ovarian Yolk Sac Tumor AJCC v6 and v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements

An ovarian poorly differentiated Sertoli-Leydig cell tumor. It is characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.


Stage IIIA2 Ovarian Cancer AJCC v8

Stage IIIA2 includes: T3a, N0/N1, M0. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage I Ovarian Yolk Sac Tumor AJCC v6 and v7


undifferentiated sarcoma of ovary

An aggressive high grade sarcoma that arises from the ovary.  It is characterized by the presence of marked pleomorphism and nuclear atypia in the neoplastic mesenchymal cells.  The prognosis is poor.


Stage IIIA1 Ovarian Cancer AJCC v8

Stage IIIA1 includes: T1/2, N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIC Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIC includes: T2c, N0, M0. T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


ovarian sarcoma

A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.


FIGO Stage III Ovarian Cancer

Ovarian cancer involving 1 or both ovaries with cytologically or histologically confirmed spread to the peritoneum outside the pelvis and/or metastasis to the retroperitoneal lymph nodes. (FIGO, 2014)


FIGO Stage II Ovarian Cancer

Ovarian cancer involving one or both ovaries with pelvic extension (below the pelvic brim) or primary peritoneal cancer. (FIGO, 2014)


Stage I Ovarian Embryonal Carcinoma AJCC v6 and v7


Advanced Ovarian Carcinosarcoma

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


Recurrent Extrarenal Rhabdoid Tumor of the Ovary

The reemergence of extrarenal rhabdoid tumor of the ovary after a period of remission.


Extrarenal Rhabdoid Tumor of the Ovary

An extrarenal rhabdoid tumor affecting the ovary.


Stage III Ovarian Embryonal Carcinoma AJCC v6 and v7

Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


adenocarcinofibroma

A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.


Stage II Ovarian Germ Cell Tumor AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Recurrent Ovarian Mucinous Adenocarcinoma

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


serous adenocarcinofibroma of ovary

A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns.


Stage IV Ovarian Carcinoma

A carcinoma that arises from the ovary and has metastasized to another anatomic site.


Ovarian Non-Neoplastic Disorder

A non-neoplastic disorder that affects the ovary.  Representative examples include endometriosis and polycystic ovarian disease.


BRCA-Associated Ovarian Carcinoma

Ovarian carcinoma caused by deleterious germline mutation in a gene of the BRCA family.


Solid Pseudopapillary Neoplasm of the Ovary

An exceedingly rare solid pseudopapillary tumor that occurs in ectopic pancreatic tissue in the ovary.


Ovarian germ cell choriocarcinoma stage III


Stage IIA Ovarian Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Ovarian cancer with tumor extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Unresectable Ovarian Undifferentiated Carcinoma

Ovarian undifferentiated carcinoma that is not amenable to surgical resection.


FIGO Stage IIIA1 Ovarian Cancer

Ovarian cancer with positive retroperitoneal lymph nodes only. (FIGO, 2014)


Platinum-Resistant Ovarian Carcinoma

Ovarian carcinoma that progresses between one and six months of completing the last platinum therapy.


Stage IIIA Ovarian Carcinoma

Ovarian cancer with positive retroperitoneal lymph nodes and/or microscopic metastasis beyond the pelvis. (FIGO, 2014)


Stage III Ovarian Yolk Sac Tumor AJCC v6 and v7


FIGO Stage IIIA1(ii) Ovarian Cancer

Ovarian cancer with positive retroperitoneal lymph nodes only. Metastasis greater than 10 mm. (FIGO, 2014)


Refractory Ovarian Seromucinous Carcinoma

Ovarian seromucinous carcinoma that is resistant to treatment.


Stage II Ovarian Cancer AJCC v8

Stage II includes: T2, N0, M0. T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


ovarian malignant mesothelioma

A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.


Stage IIIC Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Unresectable Ovarian Mucinous Adenocarcinoma

Ovarian mucinous adenocarcinoma that is not amenable to surgical resection.


choriocarcinoma of ovary

A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.


Ovarian Dedifferentiated Carcinoma

An aggressive carcinoma arising from the ovary.  Most patients present with advanced disease.  Microscopically, it is characterized by the presence of an undifferentiated carcinomatous component and a second component of either endometrioid carcinoma or, rarely, serous carcinoma.


Stage III Ovarian Germ Cell Tumor AJCC v6 and v7

Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage III Ovarian Cancer AJCC v8

Stage III includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Ovarian cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Ovarian cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage II Ovarian Embryonal Carcinoma AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Unresectable Platinum-Resistant Ovarian Carcinoma

Platinum-resistant ovarian carcinoma that is not amenable to surgical resection.


Ovarian germ cell choriocarcinoma stage IV

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


hydroxynaphthoquinone

Any naphthoquinone in which the naphthaoquinone moiety is substituted by at least one hydroxy group.


Any member of the class of 1,4-naphthoquinones in which the naphthoquinone moiety is substituted by at least one hydroxy group.


glucocorticoid deficiency 4

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.


hypersensitivity reaction disease

An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


Agigenin

An oxaspiro compound that is (25R)-5alpha-spirostan substituted by hydroxy groups at positions 2, 3 and 6 (the 2alpha,3beta,6beta stereoisomer).


Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


alpha-mannosidosis

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.


A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at either position 1 or 2.


disease

A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


classic congenital adrenal hyperplasia

A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


inflammatory disease

A disease involving a pathogenic inflammatory response in the anatomical structure.


autosomal recessive non-syndromic intellectual disability

Autosomal recessive form of non-syndromic intellectual disability.


ankylosing spondylitis

An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.


disorder of gluconeogenesis

An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.


hereditary hemochromatosis

An inherited metabolic disorder characterized by iron accumulation in the tissues.


metachromatic leukodystrophy, adult form


Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


uterine corpus endometrial stromal sarcoma

A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


autoimmune disorder of musculoskeletal system

A hypersensitivity reaction type II disease that involves the musculoskeletal system.


combined oxidative phosphorylation deficiency

A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.


Pelizaeus-Merzbacher disease, transitional form

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


adrenomyeloneuropathy

An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


amino acid metabolism disease

A disease that has its basis in the disruption of cellular amino acid metabolic process.


developmental anomaly of metabolic origin


congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.


de Barsy syndrome

A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.


non-acquired pituitary hormone deficiency


glycerol kinase deficiency, infantile form

Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


glycerol kinase deficiency, adult form

Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


homocarnosinosis

Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


schizophrenia 10

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


schizophrenia 1

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.


atypical hemolytic-uremic syndrome with anti-factor H antibodies


autoimmune disorder of the nervous system

A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.


juvenile spondyloarthropathy

A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.


male reproductive organ cancer

A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.


classic congenital lipoid adrenal hyperplasia due to STAR deficency


familial hypercholesterolemia

An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.


reproductive system neoplasm

A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.


Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.


brain infarction

Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.


disorder of phospholipids, sphingolipids and fatty acids biosynthesis


isolated adrenal insufficiency

An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.


glucocorticoid deficiency 3

A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia.


premature aging syndrome

Changes in the organism associated with senescence, occurring at an accelerated rate.


disorder of development or morphogenesis

Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.


HSD10 disease, infantile type

HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.


GTP cyclohydrolase I deficiency

A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.


rheumatic disorder

Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.


glucocorticoid-induced osteoporosis

An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.


benign endocrine neoplasm

A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.


peroxisome biogenesis disorder due to PEX1 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


inborn disorder of purine metabolism

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.


inborn disorder of serine family metabolism

An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.


familial hyperaldosteronism

Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.


inborn disorder of phenylalanine and tyrosine metabolism


hereditary periodic fever syndrome

An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.


cognitive disorder

A disease affects cognitive processes.


autoimmune disorder of peripheral nervous system

A hypersensitivity reaction type II disease that involves the peripheral nervous system.


sterol metabolism disorder

An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.


essential hypertension, genetic

An instance of essential hypertension that is caused by a modification of the individual's genome.


vitamin B deficiency

A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.


cutaneous mastocytoma

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.


reproductive system cancer

A malignant neoplasm involving the reproductive organ


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


citrullinemia type II

Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.


schizophrenia 3

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


diffuse cutaneous mastocytosis

Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


non-Zellweger spectrum disorder

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


benign neoplasm of adrenal gland

A benign neoplasm that involves the adrenal gland.


prostate disorder

A disease involving the prostate gland.


inborn aminoacylase deficiency

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.


hyperplasia

An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.


nervous system disorder

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.


narcolepsy-cataplexy syndrome

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


optic nerve disorder

A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).


glucocorticoid deficiency 1

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


alanine glyoxylate aminotransferase deficiency

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


early myoclonic encephalopathy

Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.


inborn disorder of pyrimidine metabolism

ANPM


epidermal disease

A skin disease that involves the epidermis.


hereditary xanthinuria

Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.


neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


psoriatic arthritis

Joint inflammation associated with psoriasis.


sarcoma of cervix uteri

A sarcoma involving a uterine cervix.


smoldering plasma cell myeloma

A plasma cell myeloma lacking clinical manifestations and organ impairment.


female reproductive organ cancer

A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.


disorder of magnesium transport

An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.


psychiatric disorder

A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.


muscle tissue disorder

A disease involving the muscle tissue.


female reproductive system disorder

A disease involving the female reproductive system.


intracranial berry aneurysm

An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.


disorder of metabolite absorption and transport


hereditary optic atrophy

A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


peroxisomal disease

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


neonatal glycine encephalopathy

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.


inborn disorder of energy metabolism

An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


inborn disorder of amino acid and other organic acid metabolism


dermis tumor

A benign, intermediate, or malignant neoplasm that arises from the dermis.


cervical Wilms tumor

An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


sleep disorder

A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


benign essential hypertension

A condition of mild to moderate high blood pressure that has no identifiable cause.


inborn disorder of amino acid metabolism

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


uterine ligament cancer

A primary or metastatic malignant neoplasm that affects the uterine ligament.


mild hyperphenylalaninemia

Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


panic disorder

An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.


phytanoyl-CoA hydroxylase deficiency

Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


hereditary disease

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


hyperlysinemia due to defect in lysine transport into mitochondria


hereditary spastic paraplegia

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


disorder of copper metabolism

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


free sialic acid storage disease

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


dermis disorder

A disease that involves the dermis.


uveal disorder

A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.


intracranial arterial disease

Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


purine metabolism disease

A disease that has its basis in the disruption of purine nucleobase metabolic process.


MELAS syndrome caused by mutation in MTTQ

Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.


tooth disorder

A disease involving the calcareous tooth.


cervix melanoma

An aggressive malignant tumor of melanocytic origin that arises from the cervix.


inborn metal metabolism disorder

An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


cerebral arterial disease

Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


isolated glycerol kinase deficiency

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


Mendelian encephalopathy

An instance of encephalopathy that is caused by an inherited genomic modification in an individual.


cutaneous solitary mastocytoma

A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


disorder of methylamine metabolism

An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.


autosomal genetic disease

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


disorder of carbohydrate transmembrane transport and absorption


primary orthostatic hypotension

Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


glucocorticoid deficiency 2

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


autosomal recessive disease

Autosomal recessive form of disease.


MELAS syndrome caused by mutation in MTND1

Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


malignant dysgerminomatous germ cell tumor of ovary

Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


progressive bulbar palsy of childhood

A progressive bulbar palsy of childhood that occurs during childhood.


malignant germ cell tumor of cervix uteri

A malignant germ cell tumor that involves the uterine cervix.


glucose transport disorder

An inherited metabolic disease that is has its basis in the disruption of glucose transport.


psoriasis-related juvenile idiopathic arthritis

Childhood arthritis typically associated with psoriasis.


biotin metabolic disease

A deficiency in biotin through either inherited or acquired causes.


A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


atypical glycine encephalopathy

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


infectious disease

A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.