name: all-trans-retinol dehydrogenase [NAD(+)] ADH4 deaminated 1 (human)

description: An all-trans-retinol dehydrogenase [NAD(+)] ADH4 (human) that has been deaminated on the residue at the position equivalent to Asn-231 of the amino acid sequence represented by UniProtKB:P08319-1. Example: UniProtKB:P08319-1, Asn-231, MOD:00684.


name: serine/threonine-protein kinase RIO3 cysteinylated 1 (human)

description: A serine/threonine-protein kinase RIO3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-256 of the amino acid sequence represented by UniProtKB:O14730-1. Example: UniProtKB:O14730-1, Cys-256, MOD:00765.


name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 phosphorylated 1 (human)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (human) that has been phosphorylated on the residue at the position equivalent to Ser-35 of the amino acid sequence represented by UniProtKB:Q9P032. UniProtKB:Q9P032, Ser-35, MOD:00046.


name: pyridoxine-5'-phosphate oxidase cysteinylated 1 (human)

description: A pyridoxine-5'-phosphate oxidase (human) that has been cysteinylated on the residue at the position equivalent to Cys-156 of the amino acid sequence represented by UniProtKB:Q9NVS9-1. Example: UniProtKB:Q9NVS9-1, Cys-156, MOD:00765.


name: NACHT, LRR and PYD domains-containing protein 3 isoform m3 (mouse)

description: A NACHT, LRR and PYD domains-containing protein 3 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8R4B8-3.


name: voltage-dependent T-type calcium channel subunit alpha-1G isoform h19 (human)

description: A voltage-dependent T-type calcium channel subunit alpha-1G (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:O43497-20.


name: RISC-loading complex subunit TARBP2 phosphorylated 1 (human)

description: A RISC-loading complex subunit TARBP2 (human) that has been phosphorylated on the residues at the positions equivalent to Ser-142, Ser-152, Ser-283, and Ser-286 of the amino acid sequence represented by UniProtKB:Q15633-1. Example: UniProtKB:Q15633-1, Ser-142/Ser-152/Ser-283/Ser-286, MOD:00046.


name: ATP-binding cassette sub-family C member 8 isoform B (rat)

description: An ATP-binding cassette sub-family C member 8 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q09429-2.


name: TGF-beta receptor type-1 sequence variant N45S, signal peptide removed form (human)

description: A TGF-beta receptor type-1 (human) that has a Ser residue at the position equivalent to Asn-45 of the amino acid sequence represented by UniProtKB:P36897-1 and that has had the signal peptide removed. Example: UniProtKB:P36897-1, 34-503, Asn-45, CHEBI:29999.


name: protein mono-ADP-ribosyltransferase PARP14 cysteinylated 4 (human)

description: A protein mono-ADP-ribosyltransferase PARP14 (human) that has been cysteinylated on the residue at the position equivalent to Cys-557 of the amino acid sequence represented by UniProtKB:Q460N5-6. Example: UniProtKB:Q460N5-6, Cys-557, MOD:00765.


name: beta-hexosaminidase subunit beta N-glycosylated 17 (human)

description: A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G51623PN. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G51623PN.


name: alpha-1-acid glycoprotein 1 N-glycosylated 35 (human)

description: An alpha-1-acid glycoprotein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-72 of the amino acid sequence represented by UniProtKB:P02763-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P02763-1, Asn-72, MOD:00160~GNO:G85144OK.


name: discoidin domain-containing receptor 2, signal peptide removed form (human)

description: A discoidin domain-containing receptor 2 (human) that has had the signal peptide removed. UniProtKB:Q16832, 22-855.


name: caspase-2, initiator methionine removed form (human)

description: A caspase-2 (human) that has had the initiator methionine removed. UniProtKB:P42575, 2-452.


name: vitamin K-dependent protein C N-glycosylated 33 (human)

description: A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-371 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G30939HN. Example: UniProtKB:P04070-1, Asn-371, MOD:00160~GNO:G30939HN.


name: voltage-gated potassium channel KCNV2 sequence variant G459D (human)

description: A potassium voltage-gated channel subfamily V member 2 (human) that has an Asp residue at the position equivalent to Gly-459 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Gly-459, CHEBI:29958.


name: U4/U6 small nuclear ribonucleoprotein Prp4 methylated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp4 (human) that has been methylated on the residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:O43172-1. Example: UniProtKB:O43172-1, Cys-263, MOD:00660.


name: serine/threonine-protein kinase tousled-like 1 phosphorylated 1 (human)

description: A serine/threonine-protein kinase tousled-like 1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-524 of the amino acid sequence represented by UniProtKB:Q9UKI8-1. Example: UniProtKB:Q9UKI8-1, Tyr-524, MOD:00048.


adenylate cyclase type 2

A protein that is a translation product of the human ADCY2 gene or a 1:1 ortholog thereof.


name: corticosteroid-binding globulin O-glycosylated 2 (human)

description: A corticosteroid-binding globulin (human) that has been O-glycosylated at the residue equivalent to Thr-364 of the amino acid sequence represented by UniProtKB:P08185-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08185-1, Thr-364, MOD:00005~GNO:G43417UB.


caspase-2 subunit p13 (human)

A caspase-2 subunit p13 in human. Example: UniProtKB:P42575-1, 334-452.


name: sodium/potassium-transporting ATPase subunit beta-3

description: A protein that is a translation product of the human ATP1B3 gene or a 1:1 ortholog thereof.


name: reduced folate transporter isoform h3 (human)

description: A reduced folate transporter (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:P41440-3.


name: von Willebrand factor N-glycosylated 23 (human)

description: A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2223 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-2223, MOD:00160~GNO:G08293MJ.


name: histone deacetylase 2 cysteinylated 3 (human)

description: A histone deacetylase 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-312 of the amino acid sequence represented by UniProtKB:Q92769-1. Example: UniProtKB:Q92769-1, Cys-312, MOD:00765.


name: gamma-aminobutyric acid receptor subunit rho-2

description: A GABA(A) receptor protein that is a translation product of the human GABRR2 gene or a 1:1 ortholog thereof.


name: glutamate receptor ionotropic, NMDA 2B N-glycosylated 7 (rat)

description: A glutamate receptor ionotropic, NMDA 2B (rat) that has been N-glycosylated at the residue equivalent to Asn-688 of the amino acid sequence represented by UniProtKB:Q00960-1, in which the glycan structure is represented by GlyTouCan:G55220VL. Example: UniProtKB:Q00960-1, Asn-688, MOD:00160~GNO:G55220VL.


name: hepatocyte growth factor receptor deaminated 1 (human)

description: A hepatocyte growth factor receptor (human) that has been deaminated on the residue at the position equivalent to Asn-1353 of the amino acid sequence represented by UniProtKB:P08581-1. Example: UniProtKB:P08581-1, Asn-1353, MOD:00684.


name: acetylcholine receptor subunit beta-like 2 isoform A (fruit fly)

description: An acetylcholine receptor subunit beta-like 2 (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P25162-1.


name: oxysterols receptor LXR-alpha isoform h2 (human)

description: An oxysterols receptor LXR-alpha (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:Q13133-2.


name: proteasome subunit beta type-8 methylated 1 (human)

description: A proteasome subunit beta type-8 (human) that has been methylated on the residue at the position equivalent to Arg-11 of the amino acid sequence represented by UniProtKB:P28062-1. Example: UniProtKB:P28062-1, Arg-11, MOD:00658.


name: nuclear receptor subfamily 2 group C member 2 isoform h1 (human)

description: A nuclear receptor subfamily 2 group C 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:P49116-1.


heparanase

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


name: HLA class I histocompatibility antigen, A-29 alpha chain (human)

description: An HLA class I histocompatibility antigen, A alpha chain (human) that belongs to allele group 29.


prothrombin N-glycosylated 24 (human)

A prothrombin (human) that has been N-glycosylated at the residue equivalent to Asn-416 of the amino acid sequence represented by UniProtKB:P00734-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P00734-1, Asn-416, MOD:00160~GNO:G59626AS.


interleukin-4 isoform h2 (human)

An interleukin-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:P05112-2.


name: ATP-binding cassette sub-family C member 9 sequence variant R1154W (human)

description: An ATP-binding cassette sub-family C member 9 (human) that has a Trp residue at the position equivalent to Arg-1154 of the amino acid sequence represented by UniProtKB:O60706-1. Example: UniProtKB:O60706-1, Arg-1154, CHEBI:29954.


name: high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform h6 (human)

description: A high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B (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:O95263-6.


name: vascular endothelial growth factor receptor 1 N-glycosylated 3 (human)

description: A vascular endothelial growth factor receptor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-474 of the amino acid sequence represented by UniProtKB:P17948-1, in which the glycan composition is represented by GlyTouCan:G39446WN. Example: UniProtKB:P17948-1, Asn-474, MOD:00160~GNO:G39446WN.


name: N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 1 (human)

description: An N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 isoform 1 that is encoded in the genome of human.


name: glycogen synthase kinase-3 beta phosphorylated 2 (human)

description: A glycogen synthase kinase-3 beta (human) that has been phosphorylated on the residue at the position equivalent to Ser-9 of the amino acid sequence represented by UniProtKB:P49841. UniProtKB:P49841, Ser-9, MOD:00046.


substance-K receptor

A tachykinin receptor that is a translation product of the human TACR2 gene or a 1:1 ortholog thereof. The preferred ligand is neurokinin A, also known as substance-K.


name: B-cell receptor CD22 deaminated 3 (human)

description: A B-cell receptor CD22 (human) that has been deaminated on the residue at the position equivalent to Asn-363 of the amino acid sequence represented by UniProtKB:P20273-1. Example: UniProtKB:P20273-1, Asn-363, MOD:00684.


name: sodium/potassium-transporting ATPase subunit alpha-1 isoform h3 (human)

description: A sodium/potassium-transporting ATPase subunit alpha-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:P05023-3.


serine/threonine-protein kinase Nek3

A protein that is a translation product of the human NEK3 gene or a 1:1 ortholog thereof.


name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1

description: A protein that is a translation product of the human NDUFB1 gene or a 1:1 ortholog thereof.


procathepsin L isoform h2 (human)

A procathepsin L (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:P07711-3.


name: transient receptor potential cation channel subfamily M member 8 isoform 1 (human)

description: A transient receptor potential cation channel TRPM8 isoform 1 that is encoded in the genome of human.


name: hypoxia-inducible factor 1-alpha methylated 2 (human)

description: A hypoxia-inducible factor 1-alpha (human) that has been methylated on the residue at the position equivalent to Cys-780 of the amino acid sequence represented by UniProtKB:Q16665-1. Example: UniProtKB:Q16665-1, Cys-780, MOD:00660.


name: lysosomal protective protein acetylated 2 (human)

description: A lysosomal protective protein (human) that has been acetylated on the residue at the position equivalent to Lys-429 of the amino acid sequence represented by UniProtKB:P10619-1. Example: UniProtKB:P10619-1, Lys-429, MOD:00723.


A protein that is a translation product of the human SYNJ2 gene or a 1:1 ortholog thereof.


name: solute carrier family 12 member 2 deaminated 1 (human)

description: A solute carrier family 12 member 2 (human) that has been deaminated on the residue at the position equivalent to Asn-672 of the amino acid sequence represented by UniProtKB:P55011-1. Example: UniProtKB:P55011-1, Asn-672, MOD:00684.


hemoglobin subunit

A protein that is a translation product of the human HBA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBM, HBQ1, or HBZ genes, 1:1 orthologs thereof, or semi-orthologs thereof.


name: nuclear factor erythroid 2-related factor 2 isoform h2 (human)

description: A nuclear factor erythroid 2-related factor 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:Q16236-2.


name: phospholipid-transporting ATPase ABCA1 palmitoylated 1 (human)

description: A phospholipid-transporting ATPase ABCA1 (human) that has been post-translationally modified to include palmitoylated residue at positions 3, 23, 1110 and 1111 of the amino acid sequence represented by UniProtKB:O95477. UniProtKB:O95477, Cys-3/Cys-23/Cys-1110/Cys-1111, MOD:00115.


name: ephrin type-A receptor 4, signal peptide removed form (human)

description: An ephrin type-A receptor 4 (human) that has had the signal peptide removed. UniProtKB:P54764, 20-986.


nitric oxide synthase, inducible

A protein that is a translation product of the human NOS2 gene or a 1:1 ortholog thereof.


name: dipeptidyl peptidase 8 isoform h4 (human)

description: A dipeptidyl peptidase 8 (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:Q6V1X1-4.


name: endothelin-1 receptor isoform h2 (human)

description: An endothelin-1 receptor (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:P25101-2.


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant G361A phosphorylated 2 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has an Ala residue at the position equivalent to Gly-361 of the amino acid sequence represented by UniProtKB:P04049-1 and that has been phosphorylated on the residues at the positions equivalent to Ser-338, Tyr-341, Thr-491, Ser-494, and Ser-621. Example: UniProtKB:P04049-1, Ser-338/Ser-494/Ser-621, MOD:00046|Tyr-341, MOD:00048|Gly-361, CHEBI:46217|Thr-491, MOD:00047.


name: tissue-type plasminogen activator N-glycosylated 31 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G02000AU. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G02000AU.


name: 3',5'-cyclic-AMP phosphodiesterase 4D isoform h1 (human)

description: A 3',5'-cyclic-AMP phosphodiesterase 4D (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:Q08499-4.


name: fibroblast growth factor receptor 3 sequence variant K650M, signal peptide removed phosphotyrosine (human)

description: A fibroblast growth factor receptor 3 (human) that has a Met residue at the position equivalent to Lys-650 of the amino acid sequence represented by UniProtKB:P22607-1, that has had the signal peptide removed, and that includes at least 6 phosphorylated tyrosines. Example: UniProtKB:P22607-1, 23-806, Lys-650, CHEBI:16044|MOD:00048(6+).


name: insulin receptor O-glycosylated 3 (human)

description: An insulin receptor (human) that has been O-glycosylated at the residue equivalent to Thr-786 of the amino acid sequence represented by UniProtKB:P06213-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P06213-1, Thr-786, MOD:00005~GNO:G43417UB.


squalene synthase deaminated 2 (human)

A squalene synthase (human) that has been deaminated on the residue at the position equivalent to Gln-106 of the amino acid sequence represented by UniProtKB:P37268-1. Example: UniProtKB:P37268-1, Gln-106, MOD:00685.


name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6, initiator methionine removed form (human)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 (human) that has had the initiator methionine removed. UniProtKB:O95139, 2-128.


name: RAC-alpha serine/threonine-protein kinase isoform 1 phosphorylated 2 (human)

description: A RAC-alpha serine/threonine-protein kinase isoform 1 phosphorylated 2 in human. UniProtKB:P31749-1, Thr-72/Thr-308, MOD:00047|Ser-246/Ser-473, MOD:00046.


name: cyclin-dependent kinase 2 phosphorylated 1 (human)

description: A cyclin-dependent kinase 2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-160 of the amino acid sequence represented by UniProtKB:P24941-1. Example: UniProtKB:P24941-1, Thr-160, MOD:00047.


name: platelet-derived growth factor receptor alpha sequence variant D842Y, signal peptide removed form (human)

description: A platelet-derived growth factor receptor alpha (human) that has a Tyr residue at the position equivalent to Asp-842 of the amino acid sequence represented by UniProtKB:P16234-1 and that has had the signal peptide removed. Example: UniProtKB:P16234-1, 24-1089, Asp-842, CHEBI:46858.


name: beta-hexosaminidase subunit beta N-glycosylated 15 (human)

description: A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G08011QI. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G08011QI.


name: tyrosine-protein kinase Fyn, initiator methionine removed phosphorylated 4 (human)

description: A tyrosine-protein kinase Fyn (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphotyrosine at position 531 of the amino acid sequence represented by UniProtKB:P06241. UniProtKB:P06241, 2-537, Tyr-531, MOD:00048.


name: TGF-beta receptor type-2 isoform RII-1, signal peptide removed phosphorylated 1 (human)

description: A TGF-beta receptor type-2 isoform RII-1, signal peptide removed phosphorylated 1 in human. UniProtKB:P37173-1, 23-567, Ser-213/Ser-409, MOD:00046|Tyr-259/Tyr-336/Tyr-424, MOD:00048.


name: amyloid-beta precursor protein sequence variant D243N (human)

description: An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-243 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-243, CHEBI:50347.


name: serine/threonine-protein kinase B-raf, initiator methionine removed phosphorylated 3 (human)

description: A serine/threonine-protein kinase B-raf (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphoserine at position 339 of the amino acid sequence represented by UniProtKB:P15056. UniProtKB:P15056, 2-766, Ser-339, MOD:00046.


5-hydroxytryptamine receptor 2

A 5-hydroxytryptamine receptor that is a translation product of the human HTR2A, HTR2B, or HTR2C genes, 1:1 orthologs thereof, or a semi-ortholog thereof. The preferred ligand is 5-hydroxytryptamine (serotonin).


neutrophil elastase

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


serine/threonine-protein kinase 26

A serine/threonine-protein kinase, MST4-like that is a translation product of the human STK26 gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase MRCK alpha isoform 5 (human)

description: A serine/threonine-protein kinase MRCK alpha isoform 5 that is encoded in the genome of human.


name: folylpolyglutamate synthase, mitochondrial cysteinylated 1 (human)

description: A folylpolyglutamate synthase, mitochondrial (human) that has been cysteinylated on the residue at the position equivalent to Cys-388 of the amino acid sequence represented by UniProtKB:Q05932-1. Example: UniProtKB:Q05932-1, Cys-388, MOD:00765.


name: myeloperoxidase N-glycosylated 3 (human)

description: A myeloperoxidase (human) that has been N-glycosylated at the residue equivalent to Asn-323 of the amino acid sequence represented by UniProtKB:P05164-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P05164-1, Asn-323, MOD:00160~GNO:G94917XT.


name: alpha-1-acid glycoprotein 1 N-glycosylated 41 (human)

description: An alpha-1-acid glycoprotein 1 (human) that has been N-glycosylated at the residue equivalent to Asn-93 of the amino acid sequence represented by UniProtKB:P02763-1, in which the glycan composition is represented by GlyTouCan:G11115RO. Example: UniProtKB:P02763-1, Asn-93, MOD:00160~GNO:G11115RO.


name: prostate-specific antigen N-glycosylated 42 (human)

description: A prostate-specific antigen (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P07288-1, in which the glycan structure is represented by GlyTouCan:G49991UY. Example: UniProtKB:P07288-1, Asn-69, MOD:00160~GNO:G49991UY.


exportin-1 deaminated 5 (human)

An exportin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-72 of the amino acid sequence represented by UniProtKB:O14980. UniProtKB:O14980, Asn-72, MOD:00684.


name: glutamate receptor ionotropic, NMDA 2C, signal peptide removed form (human)

description: A glutamate receptor ionotropic, NMDA 2C (human) that has had the signal peptide removed. UniProtKB:Q14957, 20-1233.


name: SUMO-activating enzyme subunit 1 methylated 2 (human)

description: A SUMO-activating enzyme subunit 1 (human) that has been methylated on the residue at the position equivalent to Cys-303 of the amino acid sequence represented by UniProtKB:Q9UBE0-1. Example: UniProtKB:Q9UBE0-1, Cys-303, MOD:00660.


name: BDNF/NT-3 growth factors receptor isoform hTrkB-N-T1 (human)

description: A BDNF/NT-3 growth factors receptor (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:Q16620-7.


dystrophin deaminated 2 (human)

A dystrophin (human) that has been deaminated on the residue at the position equivalent to Gln-45 of the amino acid sequence represented by UniProtKB:P11532-1. Example: UniProtKB:P11532-1, Gln-45, MOD:00685.


name: deoxyhypusine hydroxylase cysteinylated 1 (human)

description: A deoxyhypusine hydroxylase (human) that has been cysteinylated on the residue at the position equivalent to Cys-254 of the amino acid sequence represented by UniProtKB:Q9BU89. UniProtKB:Q9BU89, Cys-254, MOD:00765.


cytochrome P450 7A1

A protein that is a translation product of the human CYP7A1 gene or a 1:1 ortholog thereof.


name: nuclear receptor corepressor 1 methylated 1 (human)

description: A nuclear receptor corepressor 1 (human) that has been methylated on the residue at the position equivalent to Cys-662 of the amino acid sequence represented by UniProtKB:O75376-1. Example: UniProtKB:O75376-1, Cys-662, MOD:00660.


name: aminopeptidase N N-glycosylated 4 (human)

description: An aminopeptidase N (human) that has been N-glycosylated at the residue equivalent to Asn-234 of the amino acid sequence represented by UniProtKB:P15144-1, in which the glycan composition is represented by GlyTouCan:G01650EU. Example: UniProtKB:P15144-1, Asn-234, MOD:00160~GNO:G01650EU.


name: sphingosine 1-phosphate receptor 5 isoform h1 (human)

description: A sphingosine 1-phosphate receptor 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H228-1.


name: NACHT, LRR and PYD domains-containing protein 3 isoform h3 (human)

description: A NACHT, LRR and PYD domains-containing protein 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:Q96P20-3.


name: oxysterols receptor LXR-alpha isoform h3 (human)

description: An oxysterols receptor LXR-alpha (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:Q13133-3.


diamine acetyltransferase 1

A protein that is a translation product of the human SAT1 gene or a 1:1 ortholog thereof.


name: potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 isoform 1 (human)

description: A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 isoform 1 that is encoded in the genome of human.


name: tissue-type plasminogen activator N-glycosylated 34 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G12398HZ. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G12398HZ.


name: dual specificity mitogen-activated protein kinase kinase 7 isoform h4 (human)

description: A dual specificity mitogen-activated protein kinase kinase 7 (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:O14733-4.


name: cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B isoform h1 (human)

description: A cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B (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:Q13370-1.


Toll-like receptor 9 isoform h4 (human)

A Toll-like receptor 9 (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:Q9NR96-4.


name: histone deacetylase 1 methylated 1 (human)

description: A histone deacetylase 1 (human) that has been methylated on the residue at the position equivalent to Cys-273 of the amino acid sequence represented by UniProtKB:Q13547. UniProtKB:Q13547, Cys-273, MOD:00660.


P2X purinoceptor 7 isoform 1 (mouse)

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


name: plasminogen activator inhibitor 1 N-glycosylated 1 (human)

description: A plasminogen activator inhibitor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-288 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G07799LX. Example: UniProtKB:P05121-1, Asn-288, MOD:00160~GNO:G07799LX.


name: signal transducer and activator of transcription 3 methylated 2 (human)

description: A signal transducer and activator of transcription 3 (human) that has been methylated on the residue at the position equivalent to Cys-328 of the amino acid sequence represented by UniProtKB:P40763-1. Example: UniProtKB:P40763-1, Cys-328, MOD:00660.


oxytocin receptor isoform 1 (mouse)

An oxytocin receptor isoform 1 that is encoded in the genome of mouse.


LIM domain kinase 2 isoform h3 (human)

A LIM domain kinase 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:P53671-3.


name: coagulation factor XII O-glycosylated 11 (human)

description: A coagulation factor XII (human) that has been O-glycosylated at the residue equivalent to Thr-43 of the amino acid sequence represented by UniProtKB:P00748-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00748-1, Thr-43, MOD:00005~GNO:G43417UB.


name: tissue-type plasminogen activator N-glycosylated 57 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G70511VE. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G70511VE.


name: voltage-dependent T-type calcium channel subunit alpha-1G isoform h27 (human)

description: A voltage-dependent T-type calcium channel subunit alpha-1G (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:O43497-28.


name: type-1 angiotensin II receptor isoform 1 (human)

description: An angiotensin II receptor 1 isoform 1 that is encoded in the genome of human.


name: fatty acid synthase methylated 16 (human)

description: A fatty acid synthase (human) that has been methylated on the residue at the position equivalent to Cys-1881 of the amino acid sequence represented by UniProtKB:P49327. UniProtKB:P49327, Cys-1881, MOD:00660.


name: voltage-gated potassium channel subunit KCNQ1 sequence variant Y315C (human)

description: A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-315 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29950.


name: cytokine receptor common subunit gamma cysteinylated 1 (human)

description: A cytokine receptor common subunit gamma (human) that has been cysteinylated on the residue at the position equivalent to Cys-182 of the amino acid sequence represented by UniProtKB:P31785-1. Example: UniProtKB:P31785-1, Cys-182, MOD:00765.


name: butyrophilin subfamily 3 member A1 glutathionylated 1 (human)

description: A butyrophilin subfamily 3 member A1 (human) that has been glutathionylated on the residue at the position equivalent to Cys-126 of the amino acid sequence represented by UniProtKB:O00481-1. Example: UniProtKB:O00481-1, Cys-126, MOD:00234.


name: UDP-glucuronosyltransferase 1A5 isoform h2 (human)

description: A UDP-glucuronosyltransferase 1A5 (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:P35504-2.


myosin-14 deaminated 3 (human)

A myosin-14 (human) that has been deaminated on the residue at the position equivalent to Gln-435 of the amino acid sequence represented by UniProtKB:Q7Z406-1. Example: UniProtKB:Q7Z406-1, Gln-435, MOD:00685.


histone deacetylase 3

A protein that is a translation product of the human HDAC3 gene or a 1:1 ortholog thereof.


name: fibroblast growth factor receptor 2 sequence variant T660M, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 (human) that has a Met residue at the position equivalent to Thr-660 of the amino acid sequence represented by UniProtKB:P21802-1 and that has had the signal peptide removed. Example: UniProtKB:P21802-1, 22-821, Thr-660, CHEBI:16044.


GTPase NRas methylated 1 (human)

A GTPase NRas (human) that has been methylated on the residue at the position equivalent to Cys-80 of the amino acid sequence represented by UniProtKB:P01111. UniProtKB:P01111, Cys-80, MOD:00660.


name: poly [ADP-ribose] polymerase tankyrase-2 methylated 1 (human)

description: A poly [ADP-ribose] polymerase tankyrase-2 (human) that has been methylated on the residue at the position equivalent to Cys-293 of the amino acid sequence represented by UniProtKB:Q9H2K2. UniProtKB:Q9H2K2, Cys-293, MOD:00660.


name: potassium voltage-gated channel subfamily KQT member 2 isoform 3 (human)

description: A voltage-gated potassium channel subunit KCNQ2 isoform 3 that is encoded in the genome of human.


adenylate cyclase type 1

A protein that is a translation product of the human ADCY1 gene or a 1:1 ortholog thereof.


name: microtubule-associated protein tau sequence variant G366R (human)

description: A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-366 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; GLy-683 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-366, CHEBI:29952.


name: mast/stem cell growth factor receptor Kit sequence variant D816N, signal peptide removed form (human)

description: A mast/stem cell growth factor receptor Kit (human) that has an Asn residue at the position equivalent to Asp-816 of the amino acid sequence represented by UniProtKB:P10721-1 and that has had the signal peptide removed. Example: UniProtKB:P10721-1, 26-976, Asp-816, CHEBI:50347.


name: coagulation factor X N-glycosylated 1 (human)

description: A coagulation factor X (human) that has been N-glycosylated at the residue equivalent to Asn-221 of the amino acid sequence represented by UniProtKB:P00742-1, in which the glycan structure is represented by GlyTouCan:G18938DW. Example: UniProtKB:P00742-1, Asn-221, MOD:00160~GNO:G18938DW.


name: aldehyde dehydrogenase 1A1 methylated 1 (human)

description: An aldehyde dehydrogenase 1A1 (human) that has been methylated on the residue at the position equivalent to Cys-133 of the amino acid sequence represented by UniProtKB:P00352. UniProtKB:P00352, Cys-133, MOD:00660.


name: activated CDC42 kinase 1 phosphorylated 1 (human)

description: An activated CDC42 kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-284 of the amino acid sequence represented by UniProtKB:Q07912-1. Example: UniProtKB:Q07912-1, Tyr-284, MOD:00048.


name: retinol-binding protein 4 sequence variant T41N, signal peptide removed form (human)

description: A retinol-binding protein 4 (human) that has an Asn residue at the position equivalent to Thr-41 of the amino acid sequence represented by UniProtKB:P02753 and that has had the signal peptide removed. UniProtKB:P02753, 19-201, Thr-41, CHEBI:50347.


name: sodium channel protein type 5 subunit alpha isoform h3 (human)

description: A sodium channel protein type 5 subunit alpha (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:Q14524-3.


name: protein delta homolog 1 cysteinylated 1 (human)

description: A protein delta homolog 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-244 of the amino acid sequence represented by UniProtKB:P80370-1. Example: UniProtKB:P80370-1, Cys-244, MOD:00765.


name: C-C chemokine receptor type 4 cysteinylated 1 (human)

description: A C-C chemokine receptor type 4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-221 of the amino acid sequence represented by UniProtKB:P51679. UniProtKB:P51679, Cys-221, MOD:00765.


acetylcholinesterase isoform T (rat)

An acetylcholinesterase isoform 1 that is encoded in the genome of rat.


name: glucocorticoid receptor isoform hAlpha-D2 (human)

description: A glucocorticoid receptor (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:P04150-15.


name: solute carrier family 2, facilitated glucose transporter member 2 sequence variant L389P (human)

description: A solute carrier family 2, facilitated glucose transporter member 2 (human) that has a Pro residue at the position equivalent to Leu-389 of the amino acid sequence represented by UniProtKB:P11168-1. Example: UniProtKB:P11168-1, Leu-389, CHEBI:50342.


ADAM 17 endopeptidase

A protein that is a translation product of the human ADAM17 gene or a 1:1 ortholog thereof.


name: aldo-keto reductase family 1 member A1 methylated 1 (human)

description: An aldo-keto reductase family 1 member A1 (human) that has been methylated on the residue at the position equivalent to Cys-260 of the amino acid sequence represented by UniProtKB:P14550. UniProtKB:P14550, Cys-260, MOD:00660.


name: protein arginine N-methyltransferase 1 isoform V1 (human)

description: A protein arginine N-methyltransferase 1 isoform V1 that is encoded in the genome of human.


name: serine/threonine-protein kinase B-raf sequence variant G464E, initiator methionine removed phosphorylated 1 (human)

description: A serine/threonine-protein kinase B-raf (human) that has a Glu residue at the position equivalent to Gly-464 of the amino acid sequence represented by UniProtKB:P15056, that has had the initiator methionine removed, and that has been phosphorylated on the residues at the positions equivalent to Ser-446, Thr-599, Ser-602, and Ser-729. UniProtKB:P15056, 2-766, Ser-446/Ser-602/Ser-729, MOD:00046|Gly-464, CHEBI:29972|Thr-599, MOD:00047.


name: fibroblast growth factor receptor 1 isoform h4 (human)

description: A fibroblast growth factor receptor 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:P11362-2.


name: glutamate receptor ionotropic, NMDA 3A isoform 2 (rat)

description: A glutamate receptor ionotropic, NMDA 3A isoform 1 that is encoded in the genome of rat.


name: TGF-beta receptor type-1 sequence variant 11 (human)

description: A TGF-beta receptor type-1 (human) that has a three-residue deletion at the position equivalent to region 24-26 of the amino acid sequence represented by UniProtKB:P36897-1. UniProtKB:P36897, 1-23, 27-503.


name: eyes absent homolog 2 isoform h3 (human)

description: An eyes absent homolog 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:O00167-3.


name: tyrosine-protein kinase JAK2 phosphorylated 1 (human)

description: A tyrosine-protein kinase JAK2 (human) that has been phosphorylated on the residues at the positions equivalent to Tyr-1007 and Tyr-1008 of the amino acid sequence represented by UniProtKB:O60674. UniProtKB:O60674, Tyr-1007/Tyr-1008, MOD:00048.


exportin-1 methylated 3 (human)

An exportin-1 (human) that has been methylated on the residue at the position equivalent to Cys-859 of the amino acid sequence represented by UniProtKB:O14980. UniProtKB:O14980, Cys-859, MOD:00660.


G-protein coupled receptor 39

A rhodopsin-like G-protein coupled receptor that is a translation product of the human GPR39 gene or a 1:1 ortholog thereof.


name: synaptic vesicle glycoprotein 2A isoform h2 (human)

description: A synaptic vesicle glycoprotein 2A (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:Q7L0J3-2.


Pancreatic Serous Adenoma

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

description: A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas.  It is composed of glycogen-rich epithelial cells which produce a watery fluid.  Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.


name: Pancreatic Macrocystic Serous Cystadenoma

description: A benign, non-metastasizing epithelial neoplasm arising from the exocrine pancreas.  It is characterized by the presence of a few large cysts and is composed of glycogen-rich epithelial cells which produce a watery fluid.


Pancreatic Solid Serous Adenoma

description: A well-circumscribed serous adenoma that is solid and lacks cystic changes.


name: Von Hippel Lindau Syndrome-Associated Pancreatic Serous Adenoma

description: A serous adenoma that develops in a patient with Von Hippel-Lindau syndrome.  Usually there are multiple serous adenomas present of the macrocystic type.


name: Locally Advanced Gastrointestinal Stromal Tumor

description: Gastrointestinal stromal tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Metastatic Gastrointestinal Stromal Tumor

description: Gastrointestinal stromal tumor which has spread from its original site of growth to another anatomic site.


Advanced Gastrointestinal Stromal Tumor

description: A gastrointestinal stromal tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: mitochondrial complex 1 deficiency, nuclear type 16


Vaginal Blue Nevus

description: A neoplasm that arises from the vagina and is characterized by the proliferation of subepithelial benign dendritic melanocytes.


Charcot-Marie-Tooth disease type 2B

description: Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.


PIGA Deficiency

description: An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20).


name: nystagmus 3, congenital, autosomal dominant


name: Chest Pain Along Right Upper Sternal Border

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

description: The location of the chest pain is along the right upper border of the sternum.


Grade 2 Colonic Fistula, CTCAE

description: Symptomatic, invasive intervention not indicated


spondylo-ocular syndrome

description: Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.


name: neurological muscular channelopathy due to a genetic chloride channel defect


Solid Cystic Hidradenoma

description: A hidradenoma characterized by the presence of solid lobular neoplastic cell proliferations and cystic spaces filled with homogeneous eosinophilic material.


Intraoperative skin injury

description: Damage to the skin during a surgical procedure.


Frostbite

description: An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold.


Skin Bruise

description: Extravasation of blood into the subcutaneous space.


Excoriation

description: Self-inflicted tearing or wearing off of skin.


polyamino carboxylic acid

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


juvenile open angle glaucoma

description: Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.


glaucoma 1, open angle, O

description: Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.


low tension glaucoma

description: A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.


OPTN-related open angle glaucoma

description: Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.


glaucoma 1, open angle, A

description: Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.


name: persistent polyclonal B-cell lymphocytosis

description: Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.


(S)-ethotoin

The (S)-enantiomer of ethotoin.


(R)-ethotoin

The (R)-enantiomer of ethotoin.


HYDANTOIN

An imidazolidinone with oxo groups at position 2 and 4.


imidazolidinone

An imidazolidine containing one or more oxo groups.


(S)-(+)-allantoin

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


(R)-(-)-allantoin

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


Multinodular Adrenal Hyperplasia

description: A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules.


Grade 5 Rectal Anastomotic Leak, CTCAE

description: Death


A N-(long-chain-acyl)ethanolamine that is the ethanolamide of (15Z)-tetracosenoic acid.


N-oleoylethanolamide

An N-(long-chain-acyl)ethanolamine that is the ethanolamide of oleic acid. The monounsaturated analogue of the endocannabinoid anandamide.


palmitoleoyl ethanolamide

An N-acylethanolamine 16:1 that is the ethanolamide of palmitoleic acid.


Vulvar Alveolar Rhabdomyosarcoma

description: An extremely rare malignant mesenchymal neoplasm of the vulva exhibiting skeletal muscle differentiation with an alveolar pattern.


ovarian lymphoma

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


name: CYP1B1-related glaucoma with or without anterior segment dysgenesis

description: Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.


name: Unresectable Digestive System Mixed Adenoneuroendocrine Carcinoma

description: Digestive system mixed adenoneuroendocrine carcinoma that is not amenable to surgical resection.


juvenile polymyositis

description: An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


name: Advanced Pancreatic Neuroendocrine Tumor

description: A pancreatic neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Pancreatic neuroendocrine tumor metastatic

description: A neuroendocrine tumor that arises from the islet cells of the pancreas and has spread to another anatomic site.


name: Advanced Pancreatic Neuroendocrine Tumor G1

description: Pancreatic neuroendocrine tumor G1 that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Metastatic Pancreatic Neuroendocrine Tumor G3

description: Panreatic neuroendocrine tumor G3 that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Pancreatic Neuroendocrine Tumor G3

description: Pancreatic neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Metastatic Pancreatic Neuroendocrine Tumor G1

description: Pancreatic neuroendocrine tumor G1 that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Pancreatic Neuroendocrine Tumor

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


puerperal infection

description: An infection occurring in puerperium, the period of 6-8 weeks after giving birth.


postpartum psychosis

description: Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.


serous cystadenofibroma

description: A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.


uterine corpus apoplectic leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.


ovarian clear cell adenofibroma

description: An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.


fibroma of prostate

description: A fibroma that involves the prostate gland.


uterine corpus cellular leiomyoma

description: A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


oral fibroma

description: A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.


uterine corpus bizarre leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.


uterine corpus dissecting leiomyoma

description: A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.


uterine corpus adenofibroma

description: A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.


testicular fibroma

description: A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.


ovarian clear cell cystadenofibroma

description: A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.


cystadenofibroma

description: A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.


adenofibroma

description: A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.


clear cell adenofibroma

description: A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.


ovarian endometrioid cystadenofibroma

description: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.


uterine corpus diffuse leiomyomatosis

description: An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.


rete ovarii cystadenofibroma

description: An exceptionally rare cystadenofibroma that arises from the rete ovarii.


ovarian serous adenofibroma

description: A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.


uterine corpus lipoleiomyoma

description: A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.


serous adenofibroma

description: A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.


papillary adenofibroma

description: A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.


tendon sheath fibroma

description: A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.


fallopian tube serous adenofibroma

description: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.


uterine corpus myxoid leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.


uterine corpus epithelioid leiomyoma

description: A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.


clear cell cystadenofibroma

description: A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.


calcified aponeurotic fibroma

description: A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.


ovarian serous cystadenofibroma

description: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.


fallopian tube cystadenofibroma

description: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.


name: spastic paraplegia, intellectual disability, nystagmus, and obesity


name: paraparetic variant of Guillain-Barre syndrome

description: Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.


chronic dacryocystitis

description: Chronic form of dacryocystitis.


name: Recurrent Prostate Acinar Adenocarcinoma

description: The reemergence of prostate acinar adenocarcinoma after a period of remission.


name: Adenocarcinoma of the prostate recurrent

description: The reemergence of prostate adenocarcinoma after a period of remission.


name: Recurrent Prostate Small Cell Neuroendocrine Carcinoma

description: The reemergence of prostate small cell neuroendocrine carcinoma after a period of remission.


name: Biochemically Recurrent Prostate Carcinoma

description: Increasing prostate-specific antigen (PSA) following prostatectomy or radiation therapy in a patient with a history of localized prostate carcinoma. Signs of metastasis are absent using the currently available scanning technology.


name: Grade 3 Phantom Pain Associated with Missing Limb, CTCAE


benzenetriol

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


name: developmental and epileptic encephalopathy, 77


name: multiple congenital anomalies-hypotonia-seizures syndrome 3

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


name: multiple congenital anomalies-hypotonia-seizures syndrome 2

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


Cranial Nerve II Palsy

description: Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

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


Unilateral Optic Nerve Hypoplasia

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


steroid sulfate

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


cataract 33

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


name: Grade 1 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


name: Generalized or Specific Area Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


name: Lower Extremity Muscle Weakness, CTCAE Not Due to Neuropathy


name: Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


name: Facial Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Upper Extremity Muscle Weakness, CTCAE Not Due to Neuropathy


name: Grade 1 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


name: Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 1 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 4 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 2 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 5 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


name: Grade 3 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Multiple Solitary Plasmacytoma of Bone

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


chlorocycloalkane

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


chlorocyclohexane

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


Disrupted Suture

description: The loss of tension or continuity of sutures.


ovarian microcystic stromal tumor

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


benign ovarian sex cord-stromal tumor

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


ovarian fibrothecoma

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


phyllodes tumor

description: A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


prostate phyllodes tumor

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


Borderline Vulvar Phyllodes Tumor

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


benign prostate phyllodes tumor

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


Refractory Malignant Phyllodes Tumor

description: Malignant phyllodes tumor that is resistant to treatment.


name: Phyllodes Tumor of Anogenital Mammary-Type Glands

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


Malignant Vulvar Phyllodes Tumor

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


benign phyllodes tumor

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


malignant phyllodes tumor

description: A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.


Benign Vulvar Phyllodes Tumor

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


Childhood Breast Phyllodes Tumor

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


Vulvar Phyllodes Tumor

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


Borderline phyllodes tumor

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


malignant prostate phyllodes tumor

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


name: megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


name: paternal uniparental disomy of chromosome 7

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


name: Injury to stomach with open wound into cavity

description: Trauma to the stomach associated with a break in the tissue that extends into the abdominal cavity.


spindle cell neoplasm

description: A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.


ciliary body spindle cell melanoma

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


spindle cell lipoma

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


iris spindle cell melanoma

description: A spindle cell melanoma that involves the iris.


desmoplastic melanoma

description: A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.


malignant spindle cell neoplasm

description: A malignant neoplasm characterized by the presence of atypical spindle cells.


spindle cell melanoma

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


spindle cell intraocular melanoma

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


name: Complex Endometrial Hyperplasia with Atypia

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


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

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


gonococcal cystitis

description: An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

description: Acute form of gonococcal cystitis.


amine

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


(S)-clenbuterol

The (S)-enantiomer of clenbuterol.


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


(R)-dobutamine

The (R)-enantiomer of dobutamine.


PYRROLE

A tautomer of pyrrole that has the double bonds at positions 2 and 4.


enamine

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


(S)-diethylpropion

The (S)-enantiomer of amfepramone.


secondary amine

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


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


primary arylamine

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


aralkylamine

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


alkylamine

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


(R)-clenbuterol

The (R)-enantiomer of clenbuterol.


tranylcypromine

A member of the class of cyclopropanes carrying amino and phenyl substituents at positions 1 and 2 respectively.


amino fatty acid

A fatty acid containing at least one amino substituent.


omega-amino fatty acid

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


amphetamines

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


primary amine

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


alkylamines

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


tertiary amine

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


non-syndromic syndactyly

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


syndactyly type 5

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


non-syndromic synpolydactyly

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


polysyndactyly 4

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


syndactyly type 1

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


name: mesoaxial synostotic syndactyly with phalangeal reduction

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


syndactyly type 6

description: Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.


syndactyly type 4

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


syndactyly type 8

description: Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.


synpolydactyly type 2

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


syndactyly type 3

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


name: familial avascular necrosis of femoral head

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


name: Advanced Malignant Small Intestinal Neoplasm

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


name: Malignant neoplasm of small intestine, incl duodenum metastatic

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


name: Locally Advanced Small Intestinal Carcinoma

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


name: Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

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


name: Small intestine adenocarcinoma metastatic

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


name: Advanced Small Intestinal Neuroendocrine Carcinoma

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


name: Locally Advanced Small Intestinal Adenocarcinoma

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


name: Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

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


Small intestine carcinoma metastatic

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


name: Metastatic Small Intestinal Neuroendocrine Carcinoma

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


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


myopathy caused by variation in GMPPB

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


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


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

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


name: COX deficiency, benign infantile mitochondrial myopathy

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


cytochrome-c oxidase deficiency disease

description: A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


name: ENSAT Stage III Adrenal Cortical Carcinoma

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


name: Adrenal Cortical Carcinoma by ENSAT Stage

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


name: ENSAT Stage I Adrenal Cortical Carcinoma

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


name: ENSAT Stage II Adrenal Cortical Carcinoma

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


name: ENSAT Stage IV Adrenal Cortical Carcinoma

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


name: Grade 1 Atrial Tachycardia or Paroxysmal Atrial Tachycardia, CTCAE


name: Open fracture of carpal bone, unspecified

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


Closed fracture of carpal bone

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


name: trichorhinophalangeal syndrome, type III

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


name: round cell sarcoma with EWSR1-NFATC2 gene fusion

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


Cyst of nasal cavity

description: An epithelium-lined cyst in the nasal cavity.


name: autosomal dominant nonsyndromic hearing loss 65

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


Probable Acute COVID-19 Case

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


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

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


name: Post-Acute Cardiovascular Sequelae of COVID-19

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


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

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


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

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


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

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


name: Symptomatic COVID-19 Infection Laboratory-Confirmed

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


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

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


Confirmed Acute COVID-19 Case

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


severe acute respiratory syndrome

description: A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.


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

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


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

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


Severe COVID-19 Infection

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


name: Asymptomatic COVID-19 Infection Laboratory-Confirmed

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


Middle East respiratory syndrome

description: A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.


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

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


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

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


Suspected Acute COVID-19 Case

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


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

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


Moderate COVID-19 Infection

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


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

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


Mild COVID-19 Infection

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


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

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


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

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


COVID Reinfection

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


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

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


Current Seasonal Coronavirus Infection

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


Prior COVID-19 Infection

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


chromosome Y disorder

description: Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

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


spermatogenic failure, Y-linked, 2

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


48,XYYY syndrome

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


partial chromosome Y deletion

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


ring chromosome Y

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


49,XYYYY syndrome

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


isochromosomy Yp

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


name: Pancreatic Well Differentiated Ductal Adenocarcinoma

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


Stage M3 Pineoblastoma

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


Grade 3 CPK Increased, CTCAE

description: >5 x ULN-10 x ULN


(R,R)-asenapine

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


name: Grade 1 Pharynx Mucositis or Stomatitis by Functional or Symptomatic Classification, CTCAE


Childhood Cutaneous Melanoma

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


name: Grade 4 Trachea Obstruction and Stenosis, CTCAE


Supraventricular Extrasystoles, CTCAE

description: An adverse event characterized by premature atrial contractions of the heart caused by signals originating from ectopic atrial sites or the atrioventricular node.


name: Grade 3 Supraventricular Extrasystoles, CTCAE


name: Grade 4 Supraventricular Extrasystoles, CTCAE


name: Grade 2 Supraventricular Extrasystoles, CTCAE


name: Grade 5 Supraventricular Extrasystoles, CTCAE


name: Grade 1 Supraventricular Extrasystoles, CTCAE


name: Grade 4 Other Musculoskeletal and Soft Tissue, CTCAE


skin sensitivity to sun

description: The response of human skin to sun exposure.


photoallergic dermatitis

description: A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.


acromelanosis

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


name: temperature-sensitive oculocutaneous albinism type 1

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


name: hyperpigmentation, progressive cribriform and zosteriform


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


Griscelli syndrome type 3

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


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


name: minimal pigment oculocutaneous albinism type 1

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


oculocutaneous albinism type 1

description: Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


familial generalized lentiginosis

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


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