name: adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform h4 (human)

description: An adenosine 3'-phospho 5'-phosphosulfate transporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TB61-4.


G-protein coupled receptor 22

A rhodopsin-like G-protein coupled receptor that is a translation product of the human GPR22 gene or a 1:1 ortholog thereof.


name: AN1-type zinc finger protein 5 isoform 1 (human)

description: An AN1-type zinc finger protein 5 isoform 1 that is encoded in the genome of human.


name: UDP-glucose 4-epimerase isoform h2 (human)

description: A UDP-glucose 4-epimerase (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:Q14376-2.


name: UDP-glucose 4-epimerase isoform h1 (human)

description: A UDP-glucose 4-epimerase (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:Q14376-1.


name: UDP-glucose 4-epimerase sequence variant V94M (human)

description: A UDP-glucose 4-epimerase (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:Q14376-1. Example: UniProtKB:Q14376-1, Val-94, CHEBI:16044.


gangliosidosis, emu

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

description: Gangliosidosis that occurs in emu.


name: retinoblastoma-associated protein sequence variant Q637*, initiator methionine removed form (human)

description: A retinoblastoma-associated protein (human) that has has been truncated after the position equivalent to Phe-636 of the amino acid sequence represented by UniProtKB:P06400 and that has had the initiator methionine removed. UniProtKB:P06400, 2-636.


name: Lymphadenopathy with Polyclonal Hypergammaglobulinemia

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

description: A finding indicating the presence of enlarged lymph nodes and associated polyclonal hypergammaglobulinemia.


Localized enlarged lymph nodes

description: Lymphadenopathy restricted to nearby lymph nodes that has not affected other distal nodes.


Dermatopathic lymphadenitis

description: Regional lymph node enlargement with a distinctive reactive process that is characterized by paracortical hyperplasia composed of interdigitating dendritic cells, Langerhans cells, macrophages containing melanin pigment, and small T-cells, due to chronic inflammatory skin disease.


Atypical Lymph Node

description: A lymph node that deviates from usual in terms of size, shape, and internal architecture.


serine/threonine-protein kinase PAK 6

A protein that is a translation product of the human PAK6 gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase PAK 6 isoform 1 (human)

description: A serine/threonine-protein kinase PAK 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQU5-1.


name: serine/threonine-protein kinase PAK 6 isoform h2 (human)

description: A serine/threonine-protein kinase PAK 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQU5-2.


Recurrent Childhood Osteosarcoma

description: The reemergence of childhood osteosarcoma after a period of remission.


triclopyricarb

A carbamate ester that is the methyl ester of methoxy(2-{[(3,5,6-trichloropyridin-2-yl)oxy]methyl}phenyl)carbamic acid. A methoxycarbanilate fungicide used on rice and other crops.


name: methoxycarbanilate strobilurin antifungal agent

description: Any strobilurin antifungal agent that contains a methoxycarbanilate group.


pyrametostrobin

A carbamate ester that is the methyl ester of  (2-{[(1,4-dimethyl-3-phenyl-1H-pyrazol-5-yl)oxy]methyl}phenyl)methoxycarbamic acid. A fungicide that is active against powdery mildew and other diseases.


PYRACLOSTROBIN

A carbamate ester that is the methyl ester of [2-({[1-(4-chlorophenyl)-1H-pyrazol-3-yl]oxy}methyl)phenyl]methoxycarbamic acid. A fungicide used to control major plant pathogens including Septoria tritici, Puccinia spp. and Pyrenophora teres.


haptoglobin N-glycosylated 41 (human)

A haptoglobin (human) that has been N-glycosylated at the residue equivalent to Asn-211 of the amino acid sequence represented by UniProtKB:P00738-1, in which the glycan structure is represented by GlyTouCan:G62165AG. Example: UniProtKB:P00738-1, Asn-211, MOD:00160~GNO:G62165AG.


phosphatidylcholine 28:5

A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 28 carbons in total with 5 double bonds.


CBL-related disorder

description: CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.


ADP-ribosylation factor 6

A protein that is a translation product of the human ARF6 gene or a 1:1 ortholog thereof.


name: ADP-ribosylation factor 6, initiator methionine removed form (human)

description: An ADP-ribosylation factor 6 (human) that has had the initiator methionine removed. UniProtKB:P62330, 2-175.


name: ADP-ribosylation factor 6 isoform 1 (human)

description: An ADP-ribosylation factor 6 isoform 1 that is encoded in the genome of human.


name: congenital or early infantile CACH syndrome


name: leukoencephalopathy with vanishing white matter

description: A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.


name: leukoencephalopathy with vanishing white matter 5


name: leukoencephalopathy with vanishing white matter 2


name: leukoencephalopathy, progressive, with ovarian failure


name: leukoencephalopathy with vanishing white matter 3


name: leukoencephalopathy with vanishing white matter 1

description: Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.


name: leukoencephalopathy with vanishing white matter 4


name: cell cycle control protein 50A deaminated 4 (human)

description: A cell cycle control protein 50A (human) that has been deaminated on the residue at the position equivalent to Asn-347 of the amino acid sequence represented by UniProtKB:Q9NV96-1. Example: UniProtKB:Q9NV96-1, Asn-347, MOD:00684.


name: low-density lipoprotein receptor-related protein 11 O-glycosylated 1 (human)

description: A low-density lipoprotein receptor-related protein 11 (human) that has been O-glycosylated at the residue equivalent to Thr-366 of the amino acid sequence represented by UniProtKB:Q86VZ4-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q86VZ4-1, Thr-366, MOD:00005~GNO:G53434XO.


name: acid-sensing ion channel 1 isoform h1 (human)

description: An acid-sensing ion channel 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:P78348-1.


name: intraflagellar transport protein 27 homolog

description: A protein that is a translation product of the human IFT27 gene or a 1:1 ortholog thereof.


name: intraflagellar transport protein 27 homolog isoform h2 (human)

description: An intraflagellar transport protein 27 homolog (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:Q9BW83-2.


name: intraflagellar transport protein 27 homolog isoform 1 (human)

description: An intraflagellar transport protein 27 homolog isoform 1 that is encoded in the genome of human.


phosphatidylserine synthase 2

A protein that is a translation product of the human PTDSS2 gene or a 1:1 ortholog thereof.


name: small ribosomal subunit protein uS3 methylated 2 (human)

description: A small ribosomal subunit protein uS3 (human) that has been methylated on the residue at the position equivalent to Cys-119 of the amino acid sequence represented by UniProtKB:P23396-1. Example: UniProtKB:P23396-1, Cys-119, MOD:00660.


bone dysplasia, lethal Holmgren type

description: Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.


silicon-31 atom

The radioactive isotope of silicon with relative atomic mass 30.975363, half-life of 2.62 hours and nuclear spin (3)/2.


name: melanoma, cutaneous malignant, susceptibility to, 9


TRIDECANOATE

A C13 straight-chain saturated fatty acid.


protein ECT2 isoform h2 (human)

A protein ECT2 (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:Q9H8V3-2.


serpin H1 N-glycosylated 5 (human)

A serpin H1 (human) that has been N-glycosylated at the residue equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P50454-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P50454-1, Asn-125, MOD:00160~GNO:G31852PQ.


name: PR domain zinc finger protein 2 isoform h2 (human)

description: A PR domain zinc finger protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13029-2.


HENEICOSANOIC ACID

A long-chain fatty acid that is henicosane in which one of the methyl groups has been oxidised to give the corresponding carboxylic acid.


saturated fatty acid

Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.


20-methylhenicosanoic acid

A methyl-branched fatty acid that is  henicosanoic acid substituted by a methyl group at position 20.


22-methyltricosanoic acid

A methyl-branched fatty acid that is  tricosanoic acid substituted by a methyl group at position 22.


DOTRIACONTANOIC ACID

A straight-chain saturated fatty acid that is dotriacontane in which one of the methyl groups has been oxidised to the corresponding carboxylic acid.


24-methylhexacosanoic acid

A  methyl-branched fatty acid that is  cerotic acid substituted by a methyl group at position 24.


20-hydroxyhenicosanoic acid

An (omega-1)-hydroxy fatty acid that is henicosanoic acid in which one of the hydrogens at position 20 has been replaced by a hydroxy group.


7-methyloctanoic acid

A branched-chain saturated fatty acid consisting of octanoic acid carrying a 7-methyl group.


2,3-dimethylbutyric acid

A branched C4 short-chain fatty acid carrying two methyl substituents at positions 2 and 3. The methyl group at the 2-position confers chirality, hence the compound has two possible enantiomers.


2-methylhexadecanoic acid

A methyl-branched fatty acid that is hexadecanoic (palmitic) acid bearing a methyl substituent at position 2.


(20R)-20-hydroxyhenicosanoic acid

A 20-hydroxyhenicosanoic acid that has R configuration.


A 1-acyl-2-alkyl-sn-glycero-3-phosphocholine in which the acyl and alkyl groups at posiitons 1 and 2 are specified respectively as hexadecanoyl and methyl.


18-methylicosanoic acid

A methyl-branched fatty acid that is  arachidic acid substituted by a methyl group at position 18.


3-methylvaleric acid

A methyl-branched fatty acid that is pentanoic acid which carries a methyl group at position 3.


15-hydroxypentadecanoic acid

An omega-hydroxy-long-chain fatty acid that is pentadecanoic acid in which one of the hydrogens of the terminal methyl group has been replaced by a hydroxy group.


28-methylnonacosanoic acid

A  methyl-branched fatty acid that is nonacosanoic acid substituted by a methyl group at position 28.


isotridecanoic acid

A branched-chain saturated fatty acid comprising dodecanoic (lauric) acid substituted at position 11 by a methyl group.


isoheptadecanoic acid

A branched-chain saturated fatty acid comprising hexadecanoic (palmitic) acid substituted at position 15 by a methyl group.


19-hydroxynonadecanoic acid

An omega-hydroxy-long-chain fatty acid that is nonadecanoic acid in which one of the hydrogens of the terminal methyl group has been replaced by a hydroxy group.


branched-chain saturated fatty acid

Any saturated fatty acid with a carbon side-chain or isopropyl termination.


16-methyloctadecanoic acid

A methyl-branched fatty acid that is octadecanoic acid substituted by a methyl group at position 16.


10,13-dimethyltetradecanoic acid

A branched-chain saturated fatty acid comprising tetradecanoic acid carrying a methyl substituent at positions 10 and 13. It is a marine metabolite isolated from the Caribbean Sponges Calyx podatypa and Agelas dispar.


24-methylpentacosanoic acid

A methyl-branched fatty acid that is pentacosanoic acid substituted by a methyl group at position 24.


N-OCTACOSANOIC ACID

A straight-chain saturated fatty acid that is octacosane in which one of the terminal methyl groups has been oxidised to the corresponding carboxy group.


10-methyldodecanoic acid

A methyl-branched fatty acid that is dodecanoic acid (lauric acid) substituted by a methyl group at position 10.


22-methyltetracosanoic acid

A methyl-branched fatty acid that is tetracosanoic acid (lignoceric acid) substituted by a methyl group at position 22.


20-hydroxyicosanoic acid

An omega-hydroxy-long-chain fatty acid that is icosanoic acid (arachidonic acid) in which one of the hydrogens of the terminal methyl group has been replaced by a hydroxy group.


16-methylheptadecanoic acid

A methyl-branched fatty acid that is heptadecanoic acid (margaric acid) substituted by a methyl group at position 16.


12-methyloctadecanoic acid

A methyl-branched fatty acid that is octadecanoic (stearic) acid bearing a methyl substituent at position 12.


(2S)-2-methylheptadecanoic acid

A methyl-branched fatty acid that is heptadecanoic (margaric) acid bearing a methyl substituent at position 2 (the S-enantiomer).


triacontanoic acid

A C30, very long straight-chain, saturated fatty acid.


3-methylundecanoic acid

A methyl-branched fatty acid that is undecanoic acid bearing a methyl substituent at position 3.


palmitic acid-d31

A C16 straight-chain saturated fatty acid where the aliphatic hydrogens have been replaced by deuterium atoms.


2-ethylhydracrylic acid

A branched-chain saturated fatty acid that is butanoic acid substituted by a hydroxymethyl group at position 2. It is a metabolite derived from the isoleucine metabolism.


(R)-2,3-dimethylbutyric acid

The (R)-enantiomer of 2,3-butyric acid.


3,13,19-trimethyltricosanoic acid

A methyl-branched fatty acid that is tricosanoic acid substituted by a methyl group at positions 3, 13 and 19.


ARACHIDIC ACID

A C20 striaght-chain saturated fatty acid which forms a minor constituent of peanut (L. arachis) and corn oils. Used as an organic thin film in the production of liquid crystals for a wide variety of technical applications.


21-hydroxyhenicosanoic acid

An omega-hydroxy-long-chain fatty acid that is henicosanoic acid in which one of the hydrogens of the terminal methyl group has been replaced by a hydroxy group.


omega-hydroxy-15-methylpalmitic acid

A hydroxy fatty acid obtained by hydroxylation of one of the two terminal methyl groups of isoheptadecanoic acid.


13-methylpentadecanoic acid

A methyl-branched fatty acid that is pentadecanoic acid substituted by a methyl group at position 13.


12-methylpentadecanoic acid

A methyl-branched fatty acid that is pentadecanoic acid substituted by a methyl group at position 12.


18-methylnonadecanoic acid

A methyl-branched fatty acid that is nonadecanoic acid substituted by a methyl group at position 18.


(R)-2-methylbutyric acid

The (R)-enantiomer of 2-methylbutanoic acid.


13-hydroxytridecanoic acid

An omega-hydroxy-long-chain fatty acid that is tridecanoic acid in which one of the hydrogens of the terminal methyl group is replaced by a hydroxy group.


10-methylundecanoic acid

A methyl-branched fatty acid that is  undecanoic acid substituted by a methyl group at position 10.


prostanoic acid

A carbocyclic fatty acid composed of heptanoic acid having a (1S,2S)-2-octylcyclopentyl substituent at position 7.


17-methyloctadecanoic acid

A branched-chain saturated fatty acid that is octadecanoic (stearic) acid carrying a methyl substituent at position 17.


10-methyltetradecanoic acid

A branched-chain saturated fatty acid that is tetradecanoic acid in which one of the hydrogens at psoition 10 has been replaced by a methyl group. It is one of a number of methyl-branched fatty acids that have been identified as constituents of sheep perinephric fat.


19-hydroxyicosanoic acid

An (omega-1)-hydroxy fatty acid that is icosanoic acid (arachidic acid) in which a hydrogen at position 19 has been replaced by a hydroxy group.


14-methylhexadecanoic acid

A methyl-branched fatty acid that is hexadecanoic acid (palmitic acid) substituted by a methyl group at position 14.


26-methylheptacosanoic acid

A methyl-branched fatty acid that is heptacosanoic acid substituted by a methyl group at position 26.


methylbutyric acid

A methyl-branched fatty acid comprising a butyric acid core carrying a single methyl substituent.


20-methyldocosanoic acid

A methyl-branched fatty acid that is docosanoic acid (behenic acid) substituted by a methyl group at position 20.


tetradecanoic-d27 acid

A C14 straight-chain saturated fatty acid where the aliphatic hydrogens have been replaced by deuterium atoms.


(2R,6S,10S)-2,6,10,14-pristanic acid

The (2R,6S,10S)-diastereomer of pristanic acid.


omega-hydroxyphytanic acid

A hydroxy fatty acid obtained by hydroxylation of one of the two terminal methyl groups of phytanic acid.


(S)-2,3-dimethylbutyric acid

The (S)-enantiomer of 2,3-dimethylbutyric acid.


tetratriacontanoic acid

A straight-chain saturated fatty acid that is tetratriacontane in which one of the methyl groups has been oxidised to the corresponding carboxylic acid.


28-methyltriacontanoic acid

A methyl-branched fatty acid that is triacontanoic acid (melissic acid) substituted by a methyl group at position 28.


(S)-2-methylbutyric acid

The (S)-enantiomer of 2-methylbutanoic acid.


straight-chain saturated fatty acid

Any saturated fatty acid lacking a side-chain.


2-methylvaleric acid

A methyl-branched fatty acid that is pentanoic acid which carries a methyl group at position 2.


T-BUTYLACETIC ACID

A dimethylbutyric acid in which both methyl substituents are at C3; used as an intermediate in the synthesis of medicines and agricultural chemicals.


dimethylbutyric acid

Any compound comprising a butyric acid skeleton carrying two methyl components.


2-methyloctadecanoic acid

A methyl-branched fatty acid that is octadecanoic (stearic) acid bearing a methyl substituent at position 2.


heptacosanoic acid

A C27, very long straight-chain, saturated fatty acid.


26-methyloctacosanoic acid

A methyl-branched fatty acid that is octacosanoic acid (montanic acid) substituted by a methyl group at position 26.


tridecanoic-d25 acid

A C13 straight-chain saturated fatty acid where the aliphatic hydrogens have been replaced by deuterium atoms.


variable charge X-linked protein 1

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


Recurrent Dedifferentiated Chordoma

description: The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

description: The reemergence of chordoma after a period of remission.


Locally Recurrent Chordoma

description: The reemergence of chordoma after a period of remission, at or adjacent to the site of the original tumor.


polynucleotide 5'-hydroxyl-kinase NOL9

A protein that is a translation product of the human NOL9 gene or a 1:1 ortholog thereof.


name: polynucleotide 5'-hydroxyl-kinase NOL9 methylated 1 (human)

description: A polynucleotide 5'-hydroxyl-kinase NOL9 (human) that has been methylated on the residue at the position equivalent to Cys-347 of the amino acid sequence represented by UniProtKB:Q5SY16. UniProtKB:Q5SY16, Cys-347, MOD:00660.


name: polynucleotide 5'-hydroxyl-kinase NOL9 cysteinylated 1 (human)

description: A polynucleotide 5'-hydroxyl-kinase NOL9 (human) that has been cysteinylated on the residue at the position equivalent to Cys-144 of the amino acid sequence represented by UniProtKB:Q5SY16. UniProtKB:Q5SY16, Cys-144, MOD:00765.


name: polynucleotide 5'-hydroxyl-kinase NOL9 methylated 2 (human)

description: A polynucleotide 5'-hydroxyl-kinase NOL9 (human) that has been methylated on the residue at the position equivalent to Cys-140 of the amino acid sequence represented by UniProtKB:Q5SY16. UniProtKB:Q5SY16, Cys-140, MOD:00660.


name: polynucleotide 5'-hydroxyl-kinase NOL9, initiator methionine removed form (human)

description: A polynucleotide 5'-hydroxyl-kinase NOL9 (human) that has had the initiator methionine removed. UniProtKB:Q5SY16, 2-702.


name: polynucleotide 5'-hydroxyl-kinase NOL9 cysteinylated 2 (human)

description: A polynucleotide 5'-hydroxyl-kinase NOL9 (human) that has been cysteinylated on the residue at the position equivalent to Cys-140 of the amino acid sequence represented by UniProtKB:Q5SY16. UniProtKB:Q5SY16, Cys-140, MOD:00765.


name: protein kinase C delta type phosphorylated 2 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-507 of the amino acid sequence represented by UniProtKB:Q05655. UniProtKB:Q05655, Thr-507, MOD:00047.


protein kinase C delta type

A protein kinase C, delta-like that is a translation product of the human PRKCD gene or a 1:1 ortholog thereof.


name: protein kinase C delta type deaminated 1 (human)

description: A protein kinase C delta type (human) that has been deaminated on the residue at the position equivalent to Asn-407 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Asn-407, MOD:00684.


name: protein kinase C delta type phosphorylated 3 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-507, and phosphoserine at positions 645 and 664 of the amino acid sequence represented by UniProtKB:Q05655. UniProtKB:Q05655, Thr-507, MOD:00047|Ser-645/Ser-664, MOD:00046.


name: protein kinase C delta type phosphorylated 5 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Ser-359 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Ser-359, MOD:00046.


name: protein kinase C delta type methylated 2 (human)

description: A protein kinase C delta type (human) that has been methylated on the residue at the position equivalent to Cys-415 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Cys-415, MOD:00660.


name: protein kinase C delta type phosphorylated 6 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-85 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Thr-85, MOD:00047.


name: protein kinase C delta type isoform h2 (human)

description: A protein kinase C delta type (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:Q05655-2.


name: protein kinase C delta type phosphorylated 4 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Ser-645 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Ser-645, MOD:00046.


name: protein kinase C delta type phosphorylated 1 (human)

description: A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Tyr-155 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Tyr-155, MOD:00048.


name: protein kinase C delta type methylated 1 (human)

description: A protein kinase C delta type (human) that has been methylated on the residue at the position equivalent to Cys-175 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Cys-175, MOD:00660.


name: protein kinase C delta type isoform 1 (human)

description: A protein kinase C delta type isoform 1 that is encoded in the genome of human.


L-TYROSINE ETHYLESTER

An L-tyrosyl ester that is L-tyrosine in which the hydrogen of the carboxy group has been replaced by an ethyl group.


name: basement membrane-specific heparan sulfate proteoglycan core protein O-glycosylated 29 (human)

description: A basement membrane-specific heparan sulfate proteoglycan core protein (human) that has been O-glycosylated at the residue equivalent to Thr-1876 of the amino acid sequence represented by UniProtKB:P98160-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P98160-1, Thr-1876, MOD:00005~GNO:G43417UB.


name: guanylate cyclase soluble subunit alpha-1 phosphorylated 1 (human)

description: A guanylate cyclase soluble subunit alpha-1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-285 of the amino acid sequence represented by UniProtKB:Q02108-1. Example: UniProtKB:Q02108-1, Thr-285, MOD:00047.


porimin O-glycosylated 1 (human)

A porimin (human) that has been O-glycosylated at the residue equivalent to Thr-149 of the amino acid sequence represented by UniProtKB:Q8N131-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8N131-1, Thr-149, MOD:00005~GNO:G43417UB.


porimin isoform h2 (human)

A porimin (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:Q8N131-2.


porimin isoform h1 (human)

A porimin (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:Q8N131-1.


bryotoxin A

A bufadienolide glycoside that is 3,5,11,14-tetrahydroxy-12,19-dioxobufa-20,22-dienolide attached to a 3-O-acetyl-4,6-dideoxy-beta-D-arabino-hexopyranosyl residue at position 3 via a glycosidic linkage.


An  ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3 and 5 and a methoxy group at position 6 (the 3beta,5alpha,6beta stereoisomer). It has been isolated from Aspergillus ochraceus.


A 3beta-hydroxy steroid consisting of 23,24-dimethylcholest-16-ene substituted by hydroxy groups at positions 3, 5, 6 and 20 (the 3beta,5alpha,6beta,20S stereoisomer). Isolated from the soft coral Sarcophyton trocheliophorum, it exhibits cytotoxic activity against human cancer cells.


blazein

An ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3 and 5 and a methoxy group at position 6 (the 3beta,5alpha stereoisomer). It has been isolated from the fungus, Xylaria species.


erysimoside

A cardenolide glycoside that consists of strophanthidin having a beta-D-glucopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl moiety attached at position 3.


lucibufagin C

A defensive steroid lactone that is produced by males of the species Photinus pyralis.


helveticoside

A cardenolide glycoside that consists of strophanthidin having a digitoxosyl group attached at position 3.


globosterol

A 3beta-sterol that is 5alpha-androstane which contains a double bond between positions 7 and 8, in which the hydrogens at the 3beta, 5alpha and 6beta positions are substituted by hydroxy groups, and in which the hydrogen at the 17beta position is substituted by a (2S,3E,6xi)-6,7-dimethyloct-3-en-2-yl group. The polyhydroxylated C29 sterol was isolated from an endophytic fungus, Chaetomium globosum ZY-22; the stereochemistry at position 25 was not determined.


An ergostanoid that is (22E)-ergosta-7,22-diene substituted by beta-hydroxy groups at positions 3 and 6. It has been isolated from Aspergillus ochraceus.


A 3beta-sterol that is ergosta-7,22-dien-3-ol substituted by additional hydroxy groups at positions 5, 6 and 9 (3beta,5alpha,6beta,22E stereoisomer). It has been isolated from the endophytic fungus, Chaetomium globosum.


A withanolide that is 3,6:22,26-diepoxyergost-24-ene substituted by hydroxy groups at positions 4, 5 and 27 and oxo groups at positions 1 and 26. It has been isolated from the aerial parts of Physalis longifolia.


CONVALLATOXIN

A cardenolide glycoside that consists of strophanthidin having a 6-deoxy-alpha-L-mannopyranosyl (L-rhamnosyl) group attached at position 3.


An  ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at position 3 and 5 and an oxo group at position 6 (the 3beta,5alpha stereoisomer). It has been isolated from Aspergillus ochraceus.


An ergostanoid that is  (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3, 5 and 9 and an oxo group at position 6 (the 3beta,5alpha stereoisomer). It has been isolated from Aspergillus ochraceus.


dihydroouabagenin

A hexahydroxy steroidal lactone that is the 20,22-dihydro derivative of ouabagenin.


A  3beta-hydroxy steroid that is  stigmastane substituted by hydroxy groups at positions 3, 5 and 6 (the 3beta,5alpha,6beta stereoisomer). It has been isolated from the roots of Breynia fruticosa.


A cardenolide glycoside that is strophanthidin attached to a 4,6-dideoxy-3-O-(beta-D-glucopyranosyl)-2-O-methyl-beta-D-xylo-hexopyranosyl residue at position 3 via a glycosidic linkage. Isolated from Crossosoma bigelovii, it exhibits cytotoxic activity.


physalin D

A physalin with antimalarial and antimycobacterial activities isolated from Physalis angulata.


name: Stage IV Primary Peritoneal Cancer AJCC v8

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


name: Recurrent Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Refractory Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Clear Cell Adenocarcinoma

description: Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

description: The reemergence of primary peritoneal clear cell adenocarcinoma after a period of remission.


name: Stage IIIB Primary Peritoneal Cancer AJCC v8

description: Stage IIIB includes: T3b, N0/N1, M0. T3b: Primary peritoneal 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.)


Advanced Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Clear cell adenocarcinoma of peritoneum

description: An extremely rare adenocarcinoma arising from the peritoneum. It is composed of malignant glandular epithelium containing clear cells.


name: Refractory Primary Peritoneal Transitional Cell Carcinoma

description: Primary peritoneal transitional cell carcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

description: A carcinoma that arises from the peritoneum and has metastasized to another anatomic site.


name: Stage III Primary Peritoneal Cancer AJCC v7

description: Stage III includes: T3, N0, M0.  T3: Microscopically confirmed peritoneal tumor outside pelvis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Stage IIIC Primary Peritoneal Cancer AJCC v7

description: Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal tumor 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 7th Ed.)


name: Recurrent Primary Peritoneal Adenocarcinoma

description: The reemergence of primary peritoneal adenocarcinoma after a period of remission.


name: Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Refractory Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that is resistant to treatment.


name: Stage II Primary Peritoneal Cancer AJCC v8

description: Stage II includes: T2, N0, M0. T2: Primary peritoneal cancer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Metastatic Primary Peritoneal Serous Adenocarcinoma

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


name: Stage IIA Primary Peritoneal Cancer AJCC v8

description: Stage IIA includes: T2a, N0, M0. T2a: Primary peritoneal cancer with 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.)


name: Locally Advanced Unresectable Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

description: The reemergence of primary peritoneal low grade serous adenocarcinoma after a period of remission.


name: Primary Peritoneal Transitional Cell Carcinoma

description: An extremely rare transitional cell carcinoma that arises from the peritoneum.


name: Platinum-Resistant Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses between one and six months of completing platinum therapy.


name: Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is not amenable to surgical resection.


name: Primary Peritoneal Undifferentiated Carcinoma

description: An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.


name: Unresectable Primary Peritoneal Serous Adenocarcinoma

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


name: Recurrent Primary Peritoneal Transitional Cell Carcinoma

description: The reemergence of primary peritoneal transitional cell carcinoma after a period of remission.


name: Stage IIIB Primary Peritoneal Cancer AJCC v7

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


name: Metastatic Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that has spread from its original site of growth to another anatomic site.


name: Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high grade serous adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Undifferentiated Carcinoma

description: The reemergence of primary peritoneal undifferentiated carcinoma after a period of remission.


Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is resistant to treatment.


name: Unresectable Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that is not amenable to surgical resection.


name: Recurrent Platinum-Sensitive Primary Peritoneal Carcinoma

description: The reemergence of platinum-sensitive primary peritoneal carcinoma after a period of remission.


name: Primary Peritoneal Cancer by AJCC v8 Stage

description: A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition.


name: Primary Peritoneal Low Grade Serous Adenocarcinoma

description: A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features.


name: Stage III Primary Peritoneal Cancer AJCC v8

description: Stage III includes: IIIA: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Primary peritoneal 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.)


name: Primary Peritoneal Cancer by AJCC v7 Stage

description: A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 7th edition.


name: Unresectable Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is not amenable to surgical resection.


name: Platinum-Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Primary Peritoneal Endometrioid Adenocarcinoma

description: An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


name: Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: Metastatic Primary Peritoneal Adenocarcinoma

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


Primary Peritoneal Adenocarcinoma

description: A rare adenocarcinoma that arises from the lining of the peritoneum.


name: Stage IV Primary Peritoneal Cancer AJCC v7

description: Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 7th Ed.)


name: Platinum-Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Unresectable Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


name: Stage IVA Primary Peritoneal Cancer AJCC v8

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


name: Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

description: The reemergence of primary peritoneal endometrioid adenocarcinoma after a period of remission.


Recurrent Primary Peritoneal Carcinoma

description: The reemergence of primary peritoneal carcinoma after a period of remission.


name: Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

description: The reemergence of platinum-resistant primary peritoneal carcinoma after a period of remission.


name: Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

description: Primary peritoneal low grade serous adenocarcinoma that is resistant to treatment.


name: Stage IIIA Primary Peritoneal Cancer AJCC v7

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


name: Refractory Primary Peritoneal Undifferentiated Carcinoma

description: Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


name: Locally Advanced Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Stage IIIC Primary Peritoneal Cancer AJCC v8

description: Stage IIIC includes: T3c, N0/N1, M0. T3c: Primary peritoneal 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.)


name: Stage IIIA Primary Peritoneal Cancer AJCC v8

description: Stage IIIA includes: T3a, N0/N1, M0. T3a: Primary peritoneal 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.)


name: Recurrent Primary Peritoneal Serous Adenocarcinoma

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


name: Stage IIB Primary Peritoneal Cancer AJCC v8

description: Stage IIB includes: T2b, N0, M0. T2b: Primary peritoneal 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.)


name: Stage IVB Primary Peritoneal Cancer AJCC v8

description: Stage IVB includes: Any T, Any N, M1b. M1b: Primary peritoneal 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.)


name: Primary Peritoneal High Grade Serous Adenocarcinoma

description: A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features.


name: Platinum-Sensitive Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy.


name: Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

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


name: protein FAM50A, initiator methionine removed form (human)

description: A protein FAM50A (human) that has had the initiator methionine removed. UniProtKB:Q14320, 2-339.


name: ATP-binding cassette sub-family A member 2 isoform h4 (human)

description: An ATP-binding cassette sub-family A member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BZC7-4.


name: PHD finger-like domain-containing protein 5A isoform 1 (human)

description: A PHD finger-like domain-containing protein 5A isoform 1 that is encoded in the genome of human.


name: copper transport protein ATOX1 methylated 1 (human)

description: A copper transport protein ATOX1 (human) that has been methylated on the residue at the position equivalent to Cys-41 of the amino acid sequence represented by UniProtKB:O00244. UniProtKB:O00244, Cys-41, MOD:00660.


copper transport protein ATOX1

A protein that is a translation product of the human ATOX1 gene or a 1:1 ortholog thereof.


name: copper transport protein ATOX1 cysteinylated 1 (human)

description: A copper transport protein ATOX1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-15 of the amino acid sequence represented by UniProtKB:O00244. UniProtKB:O00244, Cys-15, MOD:00765.


name: copper transport protein ATOX1 isoform 1 (human)

description: A copper transport protein ATOX1 isoform 1 that is encoded in the genome of human.


great vessel cancer

description: A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

description: A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

description: A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

description: A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.


Benign neoplasm of great vessels

description: A neoplasm that arises from the great vessels and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


aortic malignant tumor

description: A cancer that involves the aorta.


scleroderma, non-human animal

description: Scleroderma that occurs in non-human animals.


scleroderma, chicken

description: Scleroderma that occurs in chicken.


farnesol

A farnesane sesquiterpenoid that is dodeca-2,6,10-triene substituted by methyl groups at positions 3, 7 and 11 and a hydroxy group at position 1.


FARNESOL

The (2-trans,6-trans)-stereoisomer of  farnesol.


The (2E,6Z)-stereoisomer of farnesol.


leukosialin O-glycosylated 84 (human)

A leukosialin (human) that has been O-glycosylated at the residue equivalent to Thr-136 of the amino acid sequence represented by UniProtKB:P16150-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P16150-1, Thr-136, MOD:00005~GNO:G65562ZE.


name: immunoglobulin heavy constant mu N-glycosylated 96 (human)

description: An immunoglobulin heavy constant mu (human) that has been N-glycosylated at the residue equivalent to Asn-46 of the amino acid sequence represented by UniProtKB:P01871-2, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P01871-2, Asn-46, MOD:00160~GNO:G12580WI.


name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


name: peptidyl-prolyl cis-trans isomerase FKBP14 isoform 1 (human)

description: A peptidyl-prolyl cis-trans isomerase FKBP14 isoform 1 that is encoded in the genome of human.


name: NGFI-A-binding protein 2 isoform 1 (human)

description: An NGFI-A-binding protein 2 isoform 1 that is encoded in the genome of human.


Metastatic Malignant Glomus Tumor

description: A malignant glomus tumor that has spread from its original site of growth to another anatomic site.


Locally Advanced Malignant Glomus Tumor

description: A malignant glomus tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Malignant Glomus Tumor

description: A malignant glomus tumor that is not amenable to surgical resection.


Refractory Malignant Glomus Tumor

description: A malignant glomus tumor that is resistant to treatment.


Decreased Pigmentation

description: Decrease in the amount of pigment.


Stage III Fallopian Tube Cancer AJCC v6

description: Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0).  T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis.  T3a: Microscopic peritoneal metastasis outside the pelvis.  T3b: Macroscopic peritoneal metastasis outside the pelvis 2cm or less in greatest dimension.  T3c: Peritoneal metastasis more than 2cm in diameter. (AJCC 6th ed.)


name: tumor necrosis factor receptor superfamily member 6 isoform 6 (human)

description: A tumor necrosis factor receptor superfamily member 6 isoform 6 that is encoded in the genome of human.


A disaccharide that is D-galactose in which the hydroxy group at position 2 has been converted into the corresponding alpha-D-mannopyranoside.


Any alpha-D-mannoside derived from 6-phospho-alpha-D-mannose.


An indolyl carbohydrate that is the alpha-D-mannoside of indoxyl in which the indole moiety is substituted at positions 4 and 5 by chlorine and bromine, respectively


Any alpha-D-mannoside derived from 6-(alpha-D-glucose-1-phospho)-alpha-D-mannose.


Any alpha-D-mannoside derived from 6-(N-acetyl-alpha-D-glucosaminyl-1-phospho)-alpha-D-mannose.


An alpha-D-Manp-(1->2)-D-Galp in which the carbon bearing the anomeric hydroxy group has alpha configuration.


name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


DNA ligase 1 isoform h2 (human)

A DNA ligase 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:P18858-2.


Stage IA2 Lung Cancer AJCC v8

description: Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)


myositis ossificans, cattle

description: Myositis ossificans that occurs in cattle.


myositis ossificans, non-human animal

description: Myositis ossificans that occurs in non-human animals.


myositis ossificans, pig

description: Myositis ossificans that occurs in pig.


name: intercellular adhesion molecule 4, signal peptide removed form (human)

description: An intercellular adhesion molecule 4 (human) that has had the signal peptide removed. UniProtKB:Q14773, 23-271.


name: B-cell linker protein isoform h3 (human)

description: A B-cell linker protein (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:Q8WV28-3.


name: BRCA1-associated RING domain protein 1 isoform beta (human)

description: A BRCA1-associated RING domain protein 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:Q99728-3.


name: X-ray repair cross-complementing protein 5 cysteinylated 2 (human)

description: An X-ray repair cross-complementing protein 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-493 of the amino acid sequence represented by UniProtKB:P13010. UniProtKB:P13010, Cys-493, MOD:00765.


name: ocular dysgenesis caused by defects in PAX6 regulation

description: Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.


name: multidrug and toxin extrusion protein 1 isoform h2 (human)

description: A multidrug and toxin extrusion protein 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:Q96FL8-2.


name: Metastatic malignant neoplasm to prostate

description: The spread of a malignant neoplasm to the prostate gland from an adjacent or distant anatomic site.


name: Metastatic Malignant Neoplasm in the Male Reproductive System

description: The spread of a malignant neoplasm to the male reproductive system from an adjacent or distant anatomic site.


Secondary Prostate Urothelial Carcinoma

description: A transitional cell carcinoma that has spread to the prostate gland directly from the bladder.


name: Metastatic malignant neoplasm to seminal vesicle

description: The spread of a malignant neoplasm to the seminal vesicle from an adjacent or distant anatomic site.


Metastatic malignant neoplasm to testis

description: A malignant neoplasm that has spread to the testis from another anatomic site.


name: Metastatic malignant neoplasm to epididymis

description: A malignant neoplasm that has metastasized to the epididymis from another anatomic site.


Metastatic malignant neoplasm to penis

description: The spread of a malignant neoplasm to the penis from an adjacent or distant anatomic site.


name: F-box/LRR-repeat protein 4 isoform 1 (human)

description: An F-box/LRR-repeat protein 4 isoform 1 that is encoded in the genome of human.


name: electrogenic sodium bicarbonate cotransporter 1 sequence variant G427L (human)

description: An electrogenic sodium bicarbonate cotransporter 1 (human) that has a Leu residue at the position equivalent to Gly-427 of the amino acid sequence represented by UniProtKB:Q9Y6R1-1. Example: UniProtKB:Q9Y6R1-1, Gly-427, CHEBI:30006.


name: probable E3 ubiquitin-protein ligase TRIML1

description: A protein that is a translation product of the human TRIML1 gene or a 1:1 ortholog thereof.


name: E3 ubiquitin-protein ligase DTX3L cysteinylated 1 (human)

description: An E3 ubiquitin-protein ligase DTX3L (human) that has been cysteinylated on the residue at the position equivalent to Cys-577 of the amino acid sequence represented by UniProtKB:Q8TDB6-1. Example: UniProtKB:Q8TDB6-1, Cys-577, MOD:00765.


name: tyrosine-protein phosphatase non-receptor type 1 methylated 2 (human)

description: A tyrosine-protein phosphatase non-receptor type 1 (human) that has been methylated on the residue at the position equivalent to Cys-121 of the amino acid sequence represented by UniProtKB:P18031. UniProtKB:P18031, Cys-121, MOD:00660.


name: tyrosine-protein phosphatase non-receptor type 1 phosphorylated 1 (human)

description: A tyrosine-protein phosphatase non-receptor type 1 (human) that has been phosphorylated at Tyr-66. UniProtKB:P18031, Tyr-66, MOD:00048.


name: tyrosine-protein phosphatase non-receptor type 1 methylated 1 (human)

description: A tyrosine-protein phosphatase non-receptor type 1 (human) that has been methylated on the residue at the position equivalent to Cys-426 of the amino acid sequence represented by UniProtKB:P18031. UniProtKB:P18031, Cys-426, MOD:00660.


description: A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


name: Stage 0 Hilar Cholangiocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Locally Advanced Distal Bile Duct Carcinoma

description: Distal bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage IVB includes: Any T, Any N, M1.  M1: Distant metastasis. (from AJCC 7th Ed.)


name: Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Cholangiocarcinoma resectable

description: Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

description: A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has metastasized to other anatomic sites.


name: Advanced Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Stage IVB Hilar Cholangiocarcinoma AJCC v8

description: Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Stage IB Distal Bile Duct Cancer AJCC v7

description: Stage IB includes: T2, N0, M0. T2: Tumor invades beyond the wall of the bile duct.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Localized Extrahepatic Bile Duct Carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts and it has not spread to other anatomic sites.


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v7

description: Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Hilar Cholangiocarcinoma by AJCC v7 Stage

description: A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


Cholangiocarcinoma non-resectable

description: Cholangiocarcinoma that is not amenable to surgical resection.


name: Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Distal Bile Duct Adenocarcinoma

description: An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct.


name: Clear Cell Intrahepatic Cholangiocarcinoma

description: A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise.


Stage I Distal Bile Duct Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor invading the bile duct wall with a depth less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Metastatic Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIIC Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIC includes: Any T, N1, M0. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Unresectable Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is not amenable to surgical resection.


name: Recurrent Distal Bile Duct Adenocarcinoma

description: The reemergence of distal bile duct adenocarcinoma after a period of remission.


name: Extrahepatic Bile Duct Neuroendocrine Carcinoma

description: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The mitotic count is more than 20 per 10 HPF. It is classified as either small or large cell neuroendocrine carcinoma based on the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm.


name: Stage I Hilar Cholangiocarcinoma AJCC v7

description: Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Locally Advanced Unresectable Cholangiocarcinoma

description: Cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Stage IV Hilar Cholangiocarcinoma AJCC v8

description: Stage IV includes: IVA: (Any T, N2, M0); IVB: (Any T, Any N, M1). N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Bile duct cancer resectable

description: Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

description: A bile duct carcinoma that has spread to nearby tissues or lymph nodes.


Metastatic cholangiocarcinoma

description: A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

description: A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Stage IVA Hilar Cholangiocarcinoma AJCC v7

description: Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement.  N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis.  (from AJCC 7th Ed.)


name: Locally Advanced Intrahepatic Cholangiocarcinoma

description: Intrahepatic cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Metastatic Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: intestinal type adenocarcinoma of extrahepatic bile duct

description: An adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.


Bile duct cancer recurrent

description: The reemergence of bile duct carcinoma after a period of remission.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IV Distal Bile Duct Cancer AJCC v8

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


description: Intrahepatic cholangiocarcinoma that has metastasized to a limited number of sites.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IIIA Distal Bile Duct Cancer AJCC v8

description: Stage IIIA includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Refractory Bile Duct Carcinoma

description: Bile duct carcinoma that is resistant to treatment.


name: Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


description: The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


name: Recurrent Extrahepatic Bile Duct Carcinoma

description: The reemergence of an extrahepatic bile duct carcinoma after a period of remission.


name: Refractory Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is resistant to treatment.


name: anaplastic carcinoma of extrahepatic bile duct

description: A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts.


name: Hilar Cholangiocarcinoma by AJCC v8 Stage

description: A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ (intraductal tumor).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage II Distal Bile Duct Cancer AJCC v8

description: Stage II includes: IIA: (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVA Hilar Cholangiocarcinoma AJCC v8

description: Stage IVA includes: Any T, N2, M0. N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Hilar Cholangiocarcinoma AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Hilar Cholangiocarcinoma AJCC v8

description: Stage II includes: T2a-b, N0, M0. T2a: Tumor invading beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invading adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

description: An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


name: Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

description: A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Stage IIB Distal Bile Duct Cancer AJCC v7

description: Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor confined to the bile duct histologically.  T2: Tumor invades beyond the wall of the bile duct. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIA includes: T3, N0, M0. T3: Tumor invading unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Bile Duct Cancer by AJCC v8 Stage

description: A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)


name: Metastatic Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread from its original site of growth to another anatomic site.


name: Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

description: A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant tubular glands.


name: Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: carcinosarcoma of extrahepatic bile duct

description: A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component.


name: Stage IV Distal Bile Duct Cancer AJCC v7

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis.  (from AJCC 7th Ed.)


name: Stage IIB Distal Bile Duct Cancer AJCC v8

description: Stage IIB includes: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Hilar Cholangiocarcinoma AJCC v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IA Distal Bile Duct Cancer AJCC v7

description: Stage IA includes: T1, N0, M0. T1: Tumor confined to the bile duct histologically.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Locally Advanced Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Bile Duct Carcinoma

description: Bile duct carcinoma that is not amenable to surgical resection.


name: Stage IIIB Distal Bile Duct Cancer AJCC v8

description: Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVB Hilar Cholangiocarcinoma AJCC v7

description: Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1).  N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis. (from AJCC 7th Ed.)


description: Intrahepatic cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


name: Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component.  At least 30 percent of either component should be present for the diagnosis to be made.


Unresectable Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that is not amenable to surgical resection.


name: Stage III Hilar Cholangiocarcinoma AJCC v8

description: Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, N1, M0). T3: Tumor invading unilateral branches of the portal vein or hepatic artery. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

description: A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


name: Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IIA Distal Bile Duct Cancer AJCC v8

description: Stage IIA includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Refractory Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

description: A distal bile duct carcinoma that has spread from its original site of growth to other anatomic sites.


name: Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

description: A papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an adenocarcinoma.


description: Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


name: Stage IIA Distal Bile Duct Cancer AJCC v7

description: Stage IIA includes: T3, N0, M0.  T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Cholangiocarcinoma recurrent

description: The reemergence of cholangiocarcinoma after a period of remission.


name: Small Duct Intrahepatic Cholangiocarcinoma

description: An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Bile Duct Cancer by AJCC v7 Stage

description: A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition.


description: Intrahepatic cholangiocarcinoma that is resistant to treatment.


name: Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

description: An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.


description: Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


name: Stage II Hilar Cholangiocarcinoma AJCC v7

description: Stage II includes: T2a-b, N0, M0.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage III Distal Bile Duct Cancer AJCC v7

description: Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Cholangiocarcinoma

description: Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Unresectable Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is not amenable to surgical removal.


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIB includes: T4, N0, M0. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Resectable Extrahepatic Bile Duct Adenocarcinoma

description: Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v7

description: Stage IIIA includes: T3, N0, M0. T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

description: A papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an intrahepatic cholangiocarcinoma.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage III Distal Bile Duct Cancer AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Bile duct adenocarcinoma resectable

description: Bile duct adenocarcinoma that is amenable to surgical resection.


name: Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

description: A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Stage 0 Distal Bile Duct Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Distal Bile Duct Cancer AJCC v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Refractory Cholangiocarcinoma

description: Cholangiocarcinoma that is resistant to treatment.


name: large cell neuroendocrine carcinoma of extrahepatic bile duct

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant large cells.


name: armadillo repeat-containing protein 1 isoform h2 (human)

description: An armadillo repeat-containing protein 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:Q9NVT9-2.


name: probable E3 ubiquitin-protein ligase HERC6 isoform h3 (human)

description: A probable E3 ubiquitin-protein ligase HERC6 (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:Q8IVU3-3.


name: ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h2 (human)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13822-2.


name: EP300-interacting inhibitor of differentiation 1 isoform h2 (human)

description: An EP300-interacting inhibitor of differentiation 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:Q9Y6B2-2.


name: PHD finger protein 20-like protein 1 isoform h1 (human)

description: A PHD finger protein 20-like protein 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:A8MW92-1.


PEDILSTATIN

A phorbol ester that is 4-deoxyphorbol in which the hydroxy groups at positions  12 and 13 have been replaced by octa-2,4-dienoyloxy and acetyloxy groups respectively.


name: adhesion G-protein coupled receptor G2 isoform h3 (human)

description: An adhesion G-protein coupled receptor G2 (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:Q8IZP9-3.


homeobox protein Hox-D4

A protein that is a translation product of the human HOXD4 gene or a 1:1 ortholog thereof.


citramalyl-CoA lyase, mitochondrial

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


name: citramalyl-CoA lyase, mitochondrial isoform h1 (human)

description: A citramalyl-CoA lyase, mitochondrial (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:Q8N0X4-1.


name: citramalyl-CoA lyase, mitochondrial isoform h2 (human)

description: A citramalyl-CoA lyase, mitochondrial (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:Q8N0X4-2.


choroid spindle cell melanoma

description: A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

description: A choroid melanoma characterized by the presence of tumor cell necrosis.


choroid mixed cell melanoma

description: A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

description: Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


fumaric aciduria

description: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


vertebral artery insufficiency

description: A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1

description: A protein that is a translation product of the human EEPD1 gene or a 1:1 ortholog thereof.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 (human)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform 1 that is encoded in the genome of human.


name: endonuclease/exonuclease/phosphatase family domain-containing protein 1, initiator methionine removed form (human)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 (human) that has had the initiator methionine removed. UniProtKB:Q7L9B9, 2-569.


name: phospholipid-transporting ATPase ABCA7 isoform h1 (human)

description: A phospholipid-transporting ATPase ABCA7 (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:Q8IZY2-1.


name: protein adenylyltransferase SelO, mitochondrial

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


name: protein adenylyltransferase SelO, mitochondrial methylated 1 (human)

description: A protein adenylyltransferase SelO, mitochondrial (human) that has been methylated on the residue at the position equivalent to Cys-164 of the amino acid sequence represented by UniProtKB:Q9BVL4. UniProtKB:Q9BVL4, Cys-164, MOD:00660.


methyl alpha-D-galactoside

An alpha-D-galactoside having a methyl substituent at the anomeric position.


name: heat shock factor protein 4 isoform hHSF4B (human)

description: A heat shock factor protein 4 (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:Q9ULV5-1.


name: cytochrome b-c1 complex subunit 6, mitochondrial cysteinylated 2 (human)

description: A cytochrome b-c1 complex subunit 6, mitochondrial (human) that has been cysteinylated on the residue at the position equivalent to Cys-37 of the amino acid sequence represented by UniProtKB:P07919. UniProtKB:P07919, Cys-37, MOD:00765.


Anal Intraepithelial Neoplasia 2

description: Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


name: ornithine decarboxylase antizyme 2 isoform 1 (human)

description: An ornithine decarboxylase antizyme 2 isoform 1 that is encoded in the genome of human.


name: ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 (human)

description: A ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 that is encoded in the genome of human.


name: calcium-dependent secretion activator 2 isoform h1 (human)

description: A calcium-dependent secretion activator 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86UW7-1.


reelin deaminated 2 (human)

A reelin (human) that has been deaminated on the residue at the position equivalent to Asn-3029 of the amino acid sequence represented by UniProtKB:P78509-1. Example: UniProtKB:P78509-1, Asn-3029, MOD:00684.


name: ectonucleoside triphosphate diphosphohydrolase 3 isoform h2 (human)

description: An ectonucleoside triphosphate diphosphohydrolase 3 (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:O75355-2.


temporal lobe cancer

description: A cancer that involves the temporal lobe.


septin-8 cysteinylated 1 (human)

A septin-8 (human) that has been cysteinylated on the residue at the position equivalent to Cys-153 of the amino acid sequence represented by UniProtKB:Q92599-1. Example: UniProtKB:Q92599-1, Cys-153, MOD:00765.


name: intermembrane lipid transfer protein VPS13C deaminated 7 (human)

description: An intermembrane lipid transfer protein VPS13C (human) that has been deaminated on the residue at the position equivalent to Asn-2428 of the amino acid sequence represented by UniProtKB:Q709C8-1. Example: UniProtKB:Q709C8-1, Asn-2428, MOD:00684.


cadherin-5 N-glycosylated 2 (human)

A cadherin-5 (human) that has been N-glycosylated at the residue equivalent to Asn-442 of the amino acid sequence represented by UniProtKB:P33151-1, in which the glycan composition is represented by GlyTouCan:G80475RE. Example: UniProtKB:P33151-1, Asn-442, MOD:00160~GNO:G80475RE.


name: low-density lipoprotein receptor-related protein 11 isoform h2 (human)

description: A low-density lipoprotein receptor-related protein 11 (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:Q86VZ4-2.


name: low-density lipoprotein receptor-related protein 11 isoform h1 (human)

description: A low-density lipoprotein receptor-related protein 11 (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:Q86VZ4-1.


name: cAMP-dependent protein kinase inhibitor gamma isoform 1 (human)

description: A cAMP-dependent protein kinase inhibitor gamma isoform 1 that is encoded in the genome of human.


name: Metastatic malignant neoplasm to vertebral column

description: The spread of a malignant neoplasm to the spine.  This may be from a primary spinal malignant neoplasm, or from a malignant neoplasm at a distant site.


Metastatic malignant neoplasm to bone

description: Evidence of secondary malignant neoplasm of bone and bone marrow.


name: Prostate Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the prostate gland and has spread to the bone.


Breast Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the breast and has metastasized to the bone.


name: Breast Carcinoma Metastatic in the Spine

description: A carcinoma that arises from the breast and has spread to the spine.


name: Plasma Cell Myeloma-Induced Bone Disease

description: Bone infiltration by malignant plasma cells in patients with history of plasma cell myeloma. Bone involvement occurs in approximately eighty percent of newly diagnosed symptomatic plasma cell myeloma patients. The axial skeleton, particularly the spine, and the proximal long bones are the most commonly affected bone sites. It results in osteolytic bone lesions, widespread osteopenia, and compression fractures.


Lung Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the lung and has metastasized to the bone.


name: abnormal spindle-like microcephaly-associated protein cysteinylated 2 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-911 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-911, MOD:00765.


name: recombining binding protein suppressor of hairless

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


name: recombining binding protein suppressor of hairless isoform h5 (human)

description: A recombining binding protein suppressor of hairless (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:Q06330-5.


name: recombining binding protein suppressor of hairless isoform 7 (human)

description: A recombining binding protein suppressor of hairless isoform 7 that is encoded in the genome of human.


name: recombining binding protein suppressor of hairless isoform hAPCR-1 (human)

description: A recombining binding protein suppressor of hairless (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:Q06330-2.


name: recombining binding protein suppressor of hairless isoform h6 (human)

description: A recombining binding protein suppressor of hairless (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:Q06330-6.


name: recombining binding protein suppressor of hairless isoform hAPCR-3 (human)

description: A recombining binding protein suppressor of hairless (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:Q06330-3.


name: recombining binding protein suppressor of hairless phosphorylated 1 (human)

description: A recombining binding protein suppressor of hairless (human) that has been phosphorylated on the residue at the position equivalent to Thr-339 of the amino acid sequence represented by UniProtKB:Q06330-1. Example: UniProtKB:Q06330-1, Thr-339, MOD:00047.


name: recombining binding protein suppressor of hairless isoform hAPCR-2 (human)

description: A recombining binding protein suppressor of hairless (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:Q06330-1.


name: recombining binding protein suppressor of hairless isoform h4 (human)

description: A recombining binding protein suppressor of hairless (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:Q06330-4.


syndromic disease

description: A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.


Cobb's syndrome

description: A rare congenital but non-hereditary disorder characterized by angiomas or arteriovenous malformations of the spinal cord. Clinical signs include sudden onset of radicular pain localizable to a dermatome with overlying cutaneous vascular lesions. Untreated, the clinical course follows a progression of sensory loss, weakness to paralysis and incontinence. However, clinical prognosis improves with endovascular embolization and/or surgical excision of the spinal lesion.