name: histone H3.3, initiator methionine removed dimethylated 2 (human)

description: A histone H3.3 (human) that has had the initiator methionine removed and that has been dimethylated at the position equivalent to Arg-3 of the amino acid sequence represented by UniProtKB:P84243. UniProtKB:P84243, 2-136, Arg-3, MOD:00783.


name: maltase-glucoamylase O-glycosylated 1 (human)

description: A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-80 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O43451-1, Thr-80, MOD:00005~GNO:G53434XO.


name: amyloid-beta precursor protein sequence variant A692G (human)

description: An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Ala-692 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-692, CHEBI:29947.


name: programmed cell death 1 ligand 2 isoform h1 (human)

description: A programmed cell death 1 ligand 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:Q9BQ51-1.


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

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-45 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-45, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein

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


name: abnormal spindle-like microcephaly-associated protein isoform h2 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IZT6-2.


name: abnormal spindle-like microcephaly-associated protein methylated 7 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-1490 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-1490, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein methylated 1 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-3146 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-3146, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein citrullinated 1 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been citrullinated on the residue at the position equivalent to Arg-2871 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Arg-2871, MOD:00219.


name: abnormal spindle-like microcephaly-associated protein methylated 8 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-236 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-236, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein cysteinylated 3 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-2959 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-2959, MOD:00765.


name: abnormal spindle-like microcephaly-associated protein methylated 5 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-911 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-911, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein isoform h1 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IZT6-1.


name: abnormal spindle-like microcephaly-associated protein methylated 3 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-1257 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-1257, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein methylated 4 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been methylated on the residue at the position equivalent to Cys-3177 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-3177, MOD:00660.


name: abnormal spindle-like microcephaly-associated protein phosphorylated 1 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been phosphorylated on the residue at the position equivalent to Thr-622 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Thr-622, MOD:00047.


name: abnormal spindle-like microcephaly-associated protein deaminated 1 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been deaminated on the residue at the position equivalent to Gln-3156 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Gln-3156, MOD:00685.


name: abnormal spindle-like microcephaly-associated protein cysteinylated 1 (human)

description: An abnormal spindle-like microcephaly-associated protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-1145 of the amino acid sequence represented by UniProtKB:Q8IZT6-1. Example: UniProtKB:Q8IZT6-1, Cys-1145, MOD:00765.


name: adenosine deaminase 2 deaminated 4 (human)

description: An adenosine deaminase 2 (human) that has been deaminated on the residue at the position equivalent to Gln-474 of the amino acid sequence represented by UniProtKB:Q9NZK5-1. Example: UniProtKB:Q9NZK5-1, Gln-474, MOD:00685.


name: adenosine deaminase 2, signal peptide removed form (human)

description: An adenosine deaminase 2 (human) that has had the signal peptide removed. UniProtKB:Q9NZK5, 30-511.


name: adenosine deaminase 2 deaminated 3 (human)

description: An adenosine deaminase 2 (human) that has been deaminated on the residue at the position equivalent to Gln-274 of the amino acid sequence represented by UniProtKB:Q9NZK5-1. Example: UniProtKB:Q9NZK5-1, Gln-274, MOD:00685.


name: adenosine deaminase 2 deaminated 2 (human)

description: An adenosine deaminase 2 (human) that has been deaminated on the residue at the position equivalent to Asn-478 of the amino acid sequence represented by UniProtKB:Q9NZK5-1. Example: UniProtKB:Q9NZK5-1, Asn-478, MOD:00684.


name: adenosine deaminase 2 isoform h2 (human)

description: An adenosine deaminase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NZK5-2.


name: adenosine deaminase 2 deaminated 1 (human)

description: An adenosine deaminase 2 (human) that has been deaminated on the residue at the position equivalent to Gln-270 of the amino acid sequence represented by UniProtKB:Q9NZK5-1. Example: UniProtKB:Q9NZK5-1, Gln-270, MOD:00685.


name: adenosine deaminase 2 isoform h1 (human)

description: An adenosine deaminase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NZK5-1.


(S)-chlormezanone

The (S)-enantiomer of chlormezanone.


one cut domain family member 3

A protein that is a translation product of the human ONECUT3 gene or a 1:1 ortholog thereof.


conduritol B

A racemate consisting of the two possible cyclohex-5-ene-1,2,3,4-tetrols in which the hydroxy groups at positions 2, 3, and 4 are in a trans,cis,trans- relationship to that at position 1.


name: RAF proto-oncogene serine/threonine-protein kinase phosphotyrosine form (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that includes at least 1 phosphorylated tyrosine. UniProtKB:P04049, MOD:00048.


name: PR domain zinc finger protein 10 isoform h5 (human)

description: A PR domain zinc finger protein 10 (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:Q9NQV6-5.


triadin O-glycosylated 1 (human)

A triadin (human) that has been O-glycosylated at the residue equivalent to Thr-303 of the amino acid sequence represented by UniProtKB:Q13061-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q13061-1, Thr-303, MOD:00005~GNO:G43417UB.


triadin isoform h1 (human)

A triadin (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:Q13061-1.


triadin isoform h3 (human)

A triadin (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:Q13061-3.


triadin isoform h2 (human)

A triadin (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:Q13061-2.


name: glutamate dehydrogenase 2, mitochondrial, transit peptide removed form (human)

description: A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P49448, 54-558.


name: glutamate dehydrogenase 2, mitochondrial, transit peptide removed N6-acetyllysine form (human)

description: A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed and that includes at least 1 N6-acetyllysine. UniProtKB:P49448, 54-558, MOD:00064.


name: glutamate dehydrogenase 2, mitochondrial, transit peptide removed ADP-ribosylated form (human)

description: A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed and that includes at least 1 ADP-ribosylated residue. UniProtKB:P49448, 54-558, MOD:00752.


name: proteasome subunit beta type-3, initiator methionine removed form (human)

description: A proteasome subunit beta type-3, initiator methionine removed form in human. UniProtKB:P49720, 2-205.


name: insulin-like growth factor-binding protein 5, signal peptide removed form (human)

description: An insulin-like growth factor-binding protein 5 (human) that has had the signal peptide removed. UniProtKB:P24593, 21-272.


obg-like ATPase 1 methylated 2 (human)

An obg-like ATPase 1 (human) that has been methylated on the residue at the position equivalent to Cys-55 of the amino acid sequence represented by UniProtKB:Q9NTK5-1. Example: UniProtKB:Q9NTK5-1, Cys-55, MOD:00660.


obg-like ATPase 1 isoform h1 (human)

An obg-like ATPase 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:Q9NTK5-1.


obg-like ATPase 1 isoform h2 (human)

An obg-like ATPase 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:Q9NTK5-2.


name: obg-like ATPase 1 cysteinylated 1 (human)

description: An obg-like ATPase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-55 of the amino acid sequence represented by UniProtKB:Q9NTK5-1. Example: UniProtKB:Q9NTK5-1, Cys-55, MOD:00765.


obg-like ATPase 1 methylated 1 (human)

An obg-like ATPase 1 (human) that has been methylated on the residue at the position equivalent to Cys-117 of the amino acid sequence represented by UniProtKB:Q9NTK5-1. Example: UniProtKB:Q9NTK5-1, Cys-117, MOD:00660.


obg-like ATPase 1 isoform h3 (human)

An obg-like ATPase 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:Q9NTK5-3.


obg-like ATPase 1 deaminated 1 (human)

An obg-like ATPase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-215 of the amino acid sequence represented by UniProtKB:Q9NTK5-1. Example: UniProtKB:Q9NTK5-1, Asn-215, MOD:00684.


name: superoxide dismutase [Mn], mitochondrial, transit peptide removed acetylated 1 (human)

description: A superoxide dismutase [Mn], mitochondrial (human) that has had the transit peptide removed and that has been acetylated on the residue at the position equivalent to Lys-122 of the amino acid sequence represented by UniProtKB:P04179-1. Example: UniProtKB:P04179-1, 25-222, Lys-122, MOD:00064.


B-cell receptor CD22 isoform h3 (human)

A B-cell receptor CD22 (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:P20273-3.


(R)-dimethenamid

A 2-chloro-N-(2,4-dimethylthiophen-3-yl)-N-[(2R)-1-methoxypropan-2-yl]acetamide that has R configuration. It is the inactive enantiomer; its (active) enantiomer is the herbicide known as dimethenamid-P; the racemate is the herbicide dimethenamid.


name: DNA mismatch repair protein Mlh1 isoform h2 (human)

description: A DNA mismatch repair protein Mlh1 (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:P40692-2.


name: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2

description: A protein that is a translation product of the human ASAP2 gene or a 1:1 ortholog thereof.


name: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 isoform h1 (human)

description: An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43150-1.


name: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 isoform h2 (human)

description: An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43150-2.


A tetraspanin that is a translation product of the human TSPAN1 gene or a 1:1 ortholog thereof.


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

description: Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.


An unsaturated fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of trans-hex-2-enoic acid.


name: transcription factor p65 isoform 1 acetylated 1 (human)

description: A transcription factor p65 isoform 1 acetylated 1 in human. UniProtKB:Q04206-1, Lys-310/Lys-314/Lys-315, MOD:00064.


name: sodium/bile acid cotransporter 7 isoform 2 (human)

description: A sodium/bile acid cotransporter 7 isoform 2 that is encoded in the genome of human.


name: Maternally Derived Graft Versus Host Disease

description: Graft versus host disease (GVHD) that occurs in an infant as the result of engraftment of maternal lymphocytes, resulting from in utero maternal-fetal cellular trafficking.


multiple skull base meningioma

description: Multiple meningiomas that affect the skull base.


hexol

A polyol that contains 6 hydroxy groups.


CRYPTOCARYOL C

A member of the class of 2-pyranones that is 5,6-dihydro-2H-pyran-2-one substituted by a hydroxy group at position 5 and a 2,4,6,8,10-pentahydroxypentacosyl group at position 6. It has been isolated from Cryptocarya species.


An enone that is hex-3-ene in which the methylene hydrogen atoms at position 2 have been replaced by an oxo group.


Ly6/PLAUR domain-containing protein 1

A protein that is a translation product of the human LYPD1 gene or a 1:1 ortholog thereof.


name: Ly6/PLAUR domain-containing protein 1 isoform h2 (human)

description: An Ly6/PLAUR domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N2G4-2.


name: Ly6/PLAUR domain-containing protein 1 isoform h1 (human)

description: An Ly6/PLAUR domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N2G4-1.


name: Ly6/PLAUR domain-containing protein 1 isoform h4 (human)

description: An Ly6/PLAUR domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N2G4-4.


name: Ly6/PLAUR domain-containing protein 1 isoform h3 (human)

description: An Ly6/PLAUR domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N2G4-3.


sorting nexin-2 methylated 1 (human)

A sorting nexin-2 (human) that has been methylated on the residue at the position equivalent to Cys-413 of the amino acid sequence represented by UniProtKB:O60749-1. Example: UniProtKB:O60749-1, Cys-413, MOD:00660.


name: zinc finger protein Helios isoform 2 (human)

description: A zinc finger protein Helios isoform 2 that is encoded in the genome of human.


(2E,20R)-20-hydroxyhenicos-2-enoic acid

An (omega-1)-hydroxy fatty acid that is henicosanoic acid in which a double bond with E configuration has been introduced at the 2-3 position and in which the pro-R hydrogen at position 20 has been replaced by a hydroxy group.


name: trichoplein keratin filament-binding protein

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


thymidylate kinase isoform 1 (human)

A thymidylate kinase isoform 1 that is encoded in the genome of human.


E3 ubiquitin-protein ligase TRAIP

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


name: E3 ubiquitin-protein ligase TRAIP methylated 1 (human)

description: An E3 ubiquitin-protein ligase TRAIP (human) that has been methylated on the residue at the position equivalent to Cys-25 of the amino acid sequence represented by UniProtKB:Q9BWF2. UniProtKB:Q9BWF2, Cys-25, MOD:00660.


name: endoplasmic reticulum aminopeptidase 1 hydroxylated 1 (human)

description: An endoplasmic reticulum aminopeptidase 1 (human) that has been hydroxylated on the residue at the position equivalent to Trp-932 of the amino acid sequence represented by UniProtKB:Q9NZ08-1. Example: UniProtKB:Q9NZ08-1, Trp-932, MOD:01622.


name: microtubule-actin cross-linking factor 1 isoform 2 (human)

description: A microtubule-actin cross-linking factor 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:Q9UPN3-2.


name: prolow-density lipoprotein receptor-related protein 1, signal peptide removed form (human)

description: A prolow-density lipoprotein receptor-related protein 1 (human) that has had the signal peptide removed. UniProtKB:Q07954, 20-4544.


name: very long chain fatty acid elongase 4 methylated 1 (human)

description: A very long chain fatty acid elongase 4 (human) that has been methylated on the residue at the position equivalent to Cys-163 of the amino acid sequence represented by UniProtKB:Q9GZR5. UniProtKB:Q9GZR5, Cys-163, MOD:00660.


normokalemic periodic paralysis

description: An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis.  Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.


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


name: condensin complex subunit 1 deaminated 3 (human)

description: A condensin complex subunit 1 (human) that has been deaminated on the residue at the position equivalent to Gln-937 of the amino acid sequence represented by UniProtKB:Q15021. UniProtKB:Q15021, Gln-937, MOD:00685.


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

description: A voltage-gated potassium channel KCNC2 isoform 3 that is encoded in the genome of human.


name: OX-2 membrane glycoprotein isoform 1 (human)

description: An OX-2 membrane glycoprotein isoform 1 that is encoded in the genome of human.


name: OX-2 membrane glycoprotein, signal peptide removed form (human)

description: An OX-2 membrane glycoprotein (human) that has had the signal peptide removed. UniProtKB:P41217, 31-278.


name: OX-2 membrane glycoprotein isoform h2 (human)

description: An OX-2 membrane glycoprotein (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:P41217-2.


name: OX-2 membrane glycoprotein isoform h3 (human)

description: An OX-2 membrane glycoprotein (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:P41217-3.


name: kinesin-like protein KIF13B isoform h1 (human)

description: A kinesin-like protein KIF13B (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:Q9NQT8-1.


name: kinesin-like protein KIF13B isoform h2 (human)

description: A kinesin-like protein KIF13B (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:Q9NQT8-2.


name: apolipoprotein E citrullinated 1 (human)

description: An apolipoprotein E (human) that has been citrullinated on the residue at the position equivalent to Arg-199 of the amino acid sequence represented by UniProtKB:P02649. UniProtKB:P02649, Arg-199, MOD:00219.


name: mothers against decapentaplegic homolog 4 sequence variant W101* (human)

description: A mothers against decapentaplegic homolog 4 (human) that has has been truncated after the position equivalent to Arg-100 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, 1-100.


name: fibroblast growth factor receptor 1, signal peptide removed form (human)

description: A fibroblast growth factor receptor 1 (human) that has had the signal peptide removed. Example: UniProtKB:P11362-1, 22-822.


name: collagen alpha-2(VI) chain, signal peptide removed 5-hydroxy-lysine and 4-hydroxy-proline form (human)

description: A collagen alpha-2(VI) chain (human) that has had the signal peptide removed and that includes at least one 5-hydroxy-lysine and at least one 4-hydroxy-proline. UniProtKB:P12110, 21-1019, MOD:00037|MOD:00039.


name: collagen alpha-2(VI) chain, signal peptide removed 4-hydroxy-proline form (human)

description: A collagen alpha-2(VI) chain (human) that has had the signal peptide removed and that includes at least one 4-hydroxy-proline. UniProtKB:P12110, 21-1019, MOD:00039.


name: collagen alpha-2(VI) chain, signal peptide removed 3-hydroxy-proline and 4-hydroxy-proline form (human)

description: A collagen alpha-2(VI) chain (human) that has had the signal peptide removed and that includes at least one 3-hydroxy-proline and at least one 4-hydroxy-proline. UniProtKB:P12110, 21-1019, MOD:00038|MOD:00039.


name: histone deacetylase complex subunit SAP130 isoform h2 (human)

description: A histone deacetylase complex subunit SAP130 (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:Q9H0E3-2.


name: zinc finger transcription factor Trps1 isoform h1 (human)

description: A zinc finger transcription factor Trps1 (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:Q9UHF7-1.


Harel-Yoon syndrome

description: A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.


focal labyrinthitis

description: A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.


toxic labyrinthitis

description: A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.


viral labyrinthitis

description: An labyrinthitis caused by infection with Viruses.


serous labyrinthitis

description: A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.


infectious otitis interna

description: Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.


purulent labyrinthitis

description: A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.


name: leukocyte immunoglobulin-like receptor subfamily B member 5 O-glycosylated 1 (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-434 of the amino acid sequence represented by UniProtKB:O75023-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75023-1, Thr-434, MOD:00005~GNO:G43417UB.


name: leukocyte immunoglobulin-like receptor subfamily B member 5

description: A leukocyte immunoglobulin-like receptor subfamily member that is a translation product of the human LILRB5 gene or a 1:1 ortholog thereof.


name: leukocyte immunoglobulin-like receptor subfamily B member 5 O-glycosylated 3 (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-445 of the amino acid sequence represented by UniProtKB:O75023-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75023-1, Thr-445, MOD:00005~GNO:G43417UB.


name: leukocyte immunoglobulin-like receptor subfamily B member 5 isoform h3 (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 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:O75023-3.


name: leukocyte immunoglobulin-like receptor subfamily B member 5 isoform h1 (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 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:O75023-1.


name: leukocyte immunoglobulin-like receptor subfamily B member 5 isoform h2 (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 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:O75023-2.


name: leukocyte immunoglobulin-like receptor subfamily B member 5 O-glycosylated 2 (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-443 of the amino acid sequence represented by UniProtKB:O75023-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75023-1, Thr-443, MOD:00005~GNO:G43417UB.


name: leukocyte immunoglobulin-like receptor subfamily B member 5, signal peptide removed form (human)

description: A leukocyte immunoglobulin-like receptor subfamily B member 5 (human) that has had the signal peptide removed. UniProtKB:O75023, 24-590.


name: E3 ubiquitin-protein ligase TRIM32, initiator methionine removed form (human)

description: An E3 ubiquitin-protein ligase TRIM32 (human) that has had the initiator methionine removed. UniProtKB:Q13049, 2-653.


name: probable proton-coupled zinc antiporter SLC30A3

description: A protein that is a translation product of the human SLC30A3 gene or a 1:1 ortholog thereof.


name: probable proton-coupled zinc antiporter SLC30A3 isoform 1 (human)

description: A probable proton-coupled zinc antiporter SLC30A3 isoform 1 that is encoded in the genome of human.


name: brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 isoform h1 (human)

description: A brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXY1-1.


name: brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2

description: A protein that is a translation product of the human BAIAP2L2 gene or a 1:1 ortholog thereof.


name: brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 isoform h2 (human)

description: A brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXY1-2.


name: [F-actin]-monooxygenase MICAL3 isoform h5 (human)

description: An [F-actin]-monooxygenase MICAL3 (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:Q7RTP6-5.


name: [F-actin]-monooxygenase MICAL3 isoform h2 (human)

description: An [F-actin]-monooxygenase MICAL3 (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:Q7RTP6-2.


name: [F-actin]-monooxygenase MICAL3 isoform h1 (human)

description: An [F-actin]-monooxygenase MICAL3 (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:Q7RTP6-1.


name: [F-actin]-monooxygenase MICAL3 phosphorylated 2 (human)

description: An [F-actin]-monooxygenase MICAL3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1649 of the amino acid sequence represented by UniProtKB:Q7RTP6-1. Example: UniProtKB:Q7RTP6-1, Ser-1649, MOD:00046.


name: [F-actin]-monooxygenase MICAL3 isoform h4 (human)

description: An [F-actin]-monooxygenase MICAL3 (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:Q7RTP6-4.


name: [F-actin]-monooxygenase MICAL3 isoform h3 (human)

description: An [F-actin]-monooxygenase MICAL3 (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:Q7RTP6-3.


name: [F-actin]-monooxygenase MICAL3 phosphorylated 1 (human)

description: An [F-actin]-monooxygenase MICAL3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1192 of the amino acid sequence represented by UniProtKB:Q7RTP6-1. Example: UniProtKB:Q7RTP6-1, Ser-1192, MOD:00046.


name: [F-actin]-monooxygenase MICAL3 methylated 1 (human)

description: An [F-actin]-monooxygenase MICAL3 (human) that has been methylated on the residue at the position equivalent to Cys-788 of the amino acid sequence represented by UniProtKB:Q7RTP6-1. Example: UniProtKB:Q7RTP6-1, Cys-788, MOD:00660.


name: [F-actin]-monooxygenase MICAL3 cysteinylated 1 (human)

description: An [F-actin]-monooxygenase MICAL3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-788 of the amino acid sequence represented by UniProtKB:Q7RTP6-1. Example: UniProtKB:Q7RTP6-1, Cys-788, MOD:00765.


name: neural cell adhesion molecule 2 deaminated 1 (human)

description: A neural cell adhesion molecule 2 (human) that has been deaminated on the residue at the position equivalent to Gln-587 of the amino acid sequence represented by UniProtKB:O15394-1. Example: UniProtKB:O15394-1, Gln-587, MOD:00685.


complement C3 N-glycosylated 7 (human)

A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G31852PQ.


ECHOTHIOPHATE IODIDE

The iodide salt of ecothiopate. An irreversible acetylcholinesterase inhibitor, it is used an ocular antihypertensive in the treatment of open-angle glaucoma, particularly when other drugs have proved inadequate.


Esophagitis caused by Cytomegalovirus

description: Inflammation of the esophagus that is associated with cytomegalovirus.


Recurrent Fibrosarcoma

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


name: ornithine decarboxylase antizyme 3 isoform h1 (human)

description: An ornithine decarboxylase antizyme 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:Q9UMX2-1.


name: ornithine decarboxylase antizyme 3 isoform h2 (human)

description: An ornithine decarboxylase antizyme 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:Q9UMX2-2.


name: forkhead box protein K2 deaminated 1 (human)

description: A forkhead box protein K2 (human) that has been deaminated on the residue at the position equivalent to Gln-102 of the amino acid sequence represented by UniProtKB:Q01167-1. Example: UniProtKB:Q01167-1, Gln-102, MOD:00685.


name: apolipoprotein B-100 methylated 1 (human)

description: An apolipoprotein B-100 (human) that has been methylated on the residue at the position equivalent to Glu-1334 of the amino acid sequence represented by UniProtKB:P04114. UniProtKB:P04114, Glu-1334, MOD:00713.


name: zinc finger protein 64 isoform 2 (human)

description: A zinc finger protein 64 (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:Q9NTW7-6.


name: L-dopachrome tautomerase isoform h2 (human)

description: An L-dopachrome tautomerase (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:P40126-2.


7-hydroxylauric acid

A hydroxy fatty acid comprising lauric acid carrying a single hydroxy substituent at position 7.


disabled homolog 2 deaminated 2 (human)

A disabled homolog 2 (human) that has been deaminated on the residue at the position equivalent to Asn-246 of the amino acid sequence represented by UniProtKB:P98082-1. Example: UniProtKB:P98082-1, Asn-246, MOD:00684.


name: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2, initiator methionine removed form (human)

description: A glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (human) that has had the initiator methionine removed. UniProtKB:O94808, 2-682.


name: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2

description: A protein that is a translation product of the human GFPT2 gene or a 1:1 ortholog thereof.


name: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 isoform 1 (human)

description: A glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 isoform 1 that is encoded in the genome of human.


name: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 methylated 2 (human)

description: A glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (human) that has been methylated on the residue at the position equivalent to Cys-461 of the amino acid sequence represented by UniProtKB:O94808. UniProtKB:O94808, Cys-461, MOD:00660.


name: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 methylated 1 (human)

description: A glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (human) that has been methylated on the residue at the position equivalent to Cys-375 of the amino acid sequence represented by UniProtKB:O94808. UniProtKB:O94808, Cys-375, MOD:00660.


mueller-weiss syndrome

description: A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.


protein BEX2 isoform h1 (human)

A protein BEX2 (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:Q9BXY8-1.


protein BEX2 isoform h2 (human)

A protein BEX2 (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:Q9BXY8-2.


A beta-D-glucosylceramide in which a beta-D-glucosyl residue is attached to the primary hydroxyl group of N-[omega-(linoleoyloxy)]acyl-sphing-4E-enine.


plasminogen O-glycosylated 5 (human)

A plasminogen (human) that has been O-glycosylated at the residue equivalent to Ser-358 of the amino acid sequence represented by UniProtKB:P00747-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00747-1, Ser-358, MOD:00002~GNO:G43417UB.


name: DNA damage-inducible transcript 4-like protein isoform 1 (human)

description: A DNA damage-inducible transcript 4-like protein isoform 1 that is encoded in the genome of human.


name: 18-bromo-(5E,17Z)-octadeca-5,7-diene-15-ynoic acid methyl ester


name: kinetochore protein Nuf2 deaminated 1 (human)

description: A kinetochore protein Nuf2 (human) that has been deaminated on the residue at the position equivalent to Asn-10 of the amino acid sequence represented by UniProtKB:Q9BZD4. UniProtKB:Q9BZD4, Asn-10, MOD:00684.


name: G-rich sequence factor 1 isoform h2 (human)

description: A G-rich sequence factor 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:Q12849-5.


name: nuclear cap-binding protein subunit 2 acetylated 1 (human)

description: A nuclear cap-binding protein subunit 2 (human) that has been acetylated on the residue at the position equivalent to Lys-7 of the amino acid sequence represented by UniProtKB:P52298-1. Example: UniProtKB:P52298-1, Lys-7, MOD:00723.


name: nuclear cap-binding protein subunit 2 isoform h3 (human)

description: A nuclear cap-binding protein subunit 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:P52298-3.


name: nuclear cap-binding protein subunit 2 isoform h1 (human)

description: A nuclear cap-binding protein subunit 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:P52298-1.


name: nuclear cap-binding protein subunit 2 deaminated 1 (human)

description: A nuclear cap-binding protein subunit 2 (human) that has been deaminated on the residue at the position equivalent to Gln-140 of the amino acid sequence represented by UniProtKB:P52298-1. Example: UniProtKB:P52298-1, Gln-140, MOD:00685.


name: nuclear cap-binding protein subunit 2 isoform h2 (human)

description: A nuclear cap-binding protein subunit 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:P52298-2.


A 24-hydroxycholesterol that has S configuration at position 24. It is the major metabolic breakdown product of cholesterol in the brain.


A 24-hydroxycholesterol that has R configuration at position 24.


name: immunoglobulin heavy constant alpha 1 isoform h1 N-glycosylated 52 (human)

description: An immunoglobulin heavy constant alpha 1 isoform h1 (human) that has been N-glycosylated at the residue equivalent to Asn-340 of the amino acid sequence represented by UniProtKB:P01876-1, in which the glycan composition is represented by GlyTouCan:G94917XT. UniProtKB:P01876-1, Asn-340, MOD:00160~GNO:G94917XT.


name: receptor tyrosine-protein kinase erbB-2 sequence variant T862A, signal peptide removed phosphotyrosine form (human)

description: A receptor tyrosine-protein kinase erbB-2 (human) that has an Ala residue at the position equivalent to Thr-862 of the amino acid sequence represented by UniProtKB:P04626-1, that has had the signal peptide removed, and that includes at least 1 phosphorylated tyrosine. Example: UniProtKB:P04626-1, 23-1255, Thr-862, CHEBI:46217|MOD:00048.


name: polyadenylate-binding protein-interacting protein 2 methylated 1 (human)

description: A polyadenylate-binding protein-interacting protein 2 (human) that has been methylated on the residue at the position equivalent to Cys-60 of the amino acid sequence represented by UniProtKB:Q9BPZ3. UniProtKB:Q9BPZ3, Cys-60, MOD:00660.


name: bifunctional glutamate/proline--tRNA ligase phosphorylated 2 (human)

description: A bifunctional glutamate/proline--tRNA ligase (human) that has been phosphorylated on the residue at the position equivalent to Tyr-57 of the amino acid sequence represented by UniProtKB:P07814. UniProtKB:P07814, Tyr-57, MOD:00048.


name: insulin-like growth factor II O-glycosylated 8 (human)

description: An insulin-like growth factor II (human) that has been O-glycosylated at the residue equivalent to Thr-99 of the amino acid sequence represented by UniProtKB:P01344-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P01344-1, Thr-99, MOD:00005~GNO:G58001LT.


name: Mid1-interacting protein 1 cysteinylated 1 (human)

description: A Mid1-interacting protein 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-62 of the amino acid sequence represented by UniProtKB:Q9NPA3. UniProtKB:Q9NPA3, Cys-62, MOD:00765.


Recurrent Acute Monocytic Leukemia

description: The reemergence of acute monocytic leukemia after a period of remission.


Acute monocytic/monoblastic leukemia

description: Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features.


Childhood Acute Monoblastic Leukemia

description: An acute monoblastic leukemia occurring in children.


name: acute monoblastic/monocytic leukemia in relapse

description: The reemergence of acute monoblastic and monocytic leukemia after a period of remission.


Adult Acute Monoblastic Leukemia

description: An acute monoblastic leukemia occurring in adults.


name: Refractory Acute Monoblastic and Monocytic Leukemia

description: Acute monoblastic and monocytic leukemia that does not respond to treatment.


name: Adult Acute Monoblastic and Monocytic Leukemia

description: An acute monoblastic and monocytic leukemia occurring in adults.


adult acute monocytic leukemia

description: A acute monocytic leukemia that occurs in an adult.


aleukemic monocytic leukemia cutis

description: Aleukemic leukemia cutis where the skin in infiltrated by neoplastic monocytes.


Childhood Acute Monocytic Leukemia

description: An acute monocytic leukemia occurring in children.


name: Childhood Acute Monoblastic and Monocytic Leukemia

description: An acute monoblastic and monocytic leukemia occurring in children.


name: voltage-dependent L-type calcium channel subunit beta-3 isoform 1 (human)

description: A voltage-dependent L-type calcium channel subunit beta-3 isoform 1 that is encoded in the genome of human.


name: hemoglobin subunit gamma-2, initiator methionine removed form (human)

description: A hemoglobin subunit gamma-2 (human) that has had the initiator methionine removed. UniProtKB:P69892, 2-147.


hemoglobin subunit gamma-2

A hemoglobin subunit that is a translation product of the human HBG2 gene or a 1:1 ortholog thereof.


AF4/FMR2 family member 3

A protein that is a translation product of the human AFF3 gene or a 1:1 ortholog thereof.


name: AF4/FMR2 family member 3 isoform h2 (human)

description: An AF4/FMR2 family member 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:P51826-2.


name: AF4/FMR2 family member 3 methylated 1 (human)

description: An AF4/FMR2 family member 3 (human) that has been methylated on the residue at the position equivalent to Cys-18 of the amino acid sequence represented by UniProtKB:P51826-1. Example: UniProtKB:P51826-1, Cys-18, MOD:00660.


name: AF4/FMR2 family member 3 phosphorylated 1 (human)

description: An AF4/FMR2 family member 3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-549 of the amino acid sequence represented by UniProtKB:P51826-1. Example: UniProtKB:P51826-1, Ser-549, MOD:00046.


name: AF4/FMR2 family member 3 isoform h1 (human)

description: An AF4/FMR2 family member 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:P51826-1.


name: small G protein signaling modulator 3 cysteinylated 1 (human)

description: A small G protein signaling modulator 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-172 of the amino acid sequence represented by UniProtKB:Q96HU1-1. Example: UniProtKB:Q96HU1-1, Cys-172, MOD:00765.


Developmental Finding

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

description: Symptoms, physical examination results, and/or laboratory test results related to physical, emotional, behavioral, or social development.


Iatrogenic Growth Failure

description: Growth failure due to medical intervention.


name: Small for Gestational Age for Weight and Length

description: Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age.


Small for Gestational Age for Weight

description: Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age.


Infantile Colic

description: Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week.


Fetus Large for Gestational Age

description: A fetus exceeding 90% of expected weight for gestational age.


name: Small for Gestational Age with Failure of Catch-Up Growth

description: A condition in which a child who was born small for gestational age, fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population.


Newborn or Infant Finding

description: Clinical, laboratory or molecular evidence, or absence of evidence of disease in a neonate or infant.


Growth Failure of Unknown Etiology

description: Subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown.


Failure of Catch-Up Growth

description: Failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population.


Small for Gestational Age for Length

description: Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age.


name: breast cancer type 1 susceptibility protein isoform 1 phosphorylated 2 (human)

description: A breast cancer type 1 susceptibility protein isoform 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1423. UniProtKB:P38398-1, Ser-1423, MOD:00046.


An N-acyl-15-methylhexadecasphing-4-enine-1-phosphocholine in which the acyl group has 22 carbons and 4 double bonds and is 2-hydroxylated.


name: immunoglobulin heavy constant mu isoform h1 N-glycosylated 81 (human)

description: An immunoglobulin heavy constant mu isoform h1 (human) that has been N-glycosylated at the residue equivalent to Asn-440 of the amino acid sequence represented by UniProtKB:P01871-1, in which the glycan structure is represented by GlyTouCan:G80966KZ. UniProtKB:P01871-1, Asn-440, MOD:00160~GNO:G80966KZ.


TAU-FLUVALINATE

The (2R) diastereomers of fluvalinate. A synthetic pyrethroid insecticide, it is used to control varroa mites in honey bee colonies.


name: adhesion G protein-coupled receptor L3 isoform h1 (human)

description: An adhesion G protein-coupled receptor L3 (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:Q9HAR2-1.


adhesion G protein-coupled receptor L3

A calcium-independent alpha-latrotoxin receptor that is a translation product of the human ADGRL3 gene or a 1:1 ortholog thereof.


name: adhesion G protein-coupled receptor L3 isoform h3 (human)

description: An adhesion G protein-coupled receptor L3 (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:Q9HAR2-3.


name: adhesion G protein-coupled receptor L3 isoform h4 (human)

description: An adhesion G protein-coupled receptor L3 (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:Q9HAR2-4.


name: adhesion G protein-coupled receptor L3 O-glycosylated 3 (human)

description: An adhesion G protein-coupled receptor L3 (human) that has been O-glycosylated at the residue equivalent to Ser-489 of the amino acid sequence represented by UniProtKB:Q9HAR2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9HAR2-1, Ser-489, MOD:00002~GNO:G43417UB.


name: adhesion G protein-coupled receptor L3 isoform h2 (human)

description: An adhesion G protein-coupled receptor L3 (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:Q9HAR2-2.


name: adhesion G protein-coupled receptor L3 O-glycosylated 2 (human)

description: An adhesion G protein-coupled receptor L3 (human) that has been O-glycosylated at the residue equivalent to Ser-488 of the amino acid sequence represented by UniProtKB:Q9HAR2-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q9HAR2-1, Ser-488, MOD:00002~GNO:G53434XO.


name: adhesion G protein-coupled receptor L3 O-glycosylated 1 (human)

description: An adhesion G protein-coupled receptor L3 (human) that has been O-glycosylated at the residue equivalent to Ser-410 of the amino acid sequence represented by UniProtKB:Q9HAR2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9HAR2-1, Ser-410, MOD:00002~GNO:G43417UB.


RD3-related retinopathy

description: Any retinopathy caused by variants in the RD3 gene.


Leber congenital amaurosis 12

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.


name: mitochondrial complex 1 deficiency, nuclear type 14


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

description: An SNF-related serine/threonine-protein kinase (human) that has been cysteinylated on the residue at the position equivalent to Cys-66 of the amino acid sequence represented by UniProtKB:Q9NRH2-1. Example: UniProtKB:Q9NRH2-1, Cys-66, MOD:00765.


name: cytoplasmic phosphatidylinositol transfer protein 1 isoform 2 (human)

description: A cytoplasmic phosphatidylinositol transfer protein 1 isoform 2 that is encoded in the genome of human.


drebrin-like protein isoform h4 (human)

A drebrin-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UJU6-4.


afadin isoform h2 (human)

An afadin (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:P55196-1.


name: coagulation factor VII N-glycosylated 10 (human)

description: A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G08146BT.


name: WD repeat-containing protein 55 isoform h2 (human)

description: A WD repeat-containing protein 55 (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:Q9H6Y2-2.


name: E3 ubiquitin-protein ligase RNF19A methylated 1 (human)

description: An E3 ubiquitin-protein ligase RNF19A (human) that has been methylated on the residue at the position equivalent to Cys-216 of the amino acid sequence represented by UniProtKB:Q9NV58-1. Example: UniProtKB:Q9NV58-1, Cys-216, MOD:00660.


name: dolichol-phosphate mannosyltransferase subunit 1 sequence variant R92G, initiator methionine removed form (human)

description: A dolichol-phosphate mannosyltransferase subunit 1 (human) that has a Gly residue at the position equivalent to Arg-92 of the amino acid sequence represented by UniProtKB:O60762 and that has had the initiator methionine removed. UniProtKB:O60762, 2-260, Arg-92, CHEBI:29947.


name: dolichol-phosphate mannosyltransferase subunit 1, initiator methionine removed form (human)

description: A dolichol-phosphate mannosyltransferase subunit 1, initiator methionine removed form in human. UniProtKB:O60762, 2-260.


name: DNA mismatch repair protein Msh6 cysteinylated 1 (human)

description: A DNA mismatch repair protein Msh6 (human) that has been cysteinylated on the residue at the position equivalent to Cys-1165 of the amino acid sequence represented by UniProtKB:P52701-1. Example: UniProtKB:P52701-1, Cys-1165, MOD:00765.


name: NEDD8-conjugating enzyme UBE2F acetylated 1 (human)

description: A NEDD8-conjugating enzyme UBE2F (human) that has been acetylated on the residue at the position equivalent to Met-1 of the amino acid sequence represented by UniProtKB:Q969M7-1. Example: UniProtKB:Q969M7-1, Met-1, MOD:00058.


name: transmembrane protein adipocyte-associated 1 isoform h1 (human)

description: A transmembrane protein adipocyte-associated 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:Q86W33-1.


EMILIN-1 isoform h2 (human)

An EMILIN-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:Q9Y6C2-2.


A protein that is a translation product of the human EMILIN1 gene or a 1:1 ortholog thereof.


EMILIN-1 O-glycosylated 1 (human)

An EMILIN-1 (human) that has been O-glycosylated at the residue equivalent to Ser-159 of the amino acid sequence represented by UniProtKB:Q9Y6C2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y6C2-1, Ser-159, MOD:00002~GNO:G43417UB.


EMILIN-1 O-glycosylated 3 (human)

An EMILIN-1 (human) that has been O-glycosylated at the residue equivalent to Ser-281 of the amino acid sequence represented by UniProtKB:Q9Y6C2-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:Q9Y6C2-1, Ser-281, MOD:00002~GNO:G29068FM.


EMILIN-1 O-glycosylated 6 (human)

An EMILIN-1 (human) that has been O-glycosylated at the residue equivalent to Thr-417 of the amino acid sequence represented by UniProtKB:Q9Y6C2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y6C2-1, Thr-417, MOD:00005~GNO:G43417UB.


EMILIN-1 O-glycosylated 4 (human)

An EMILIN-1 (human) that has been O-glycosylated at the residue equivalent to Ser-281 of the amino acid sequence represented by UniProtKB:Q9Y6C2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y6C2-1, Ser-281, MOD:00002~GNO:G43417UB.


EMILIN-1 O-glycosylated 2 (human)

An EMILIN-1 (human) that has been O-glycosylated at the residue equivalent to Ser-274 of the amino acid sequence represented by UniProtKB:Q9Y6C2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y6C2-1, Ser-274, MOD:00002~GNO:G43417UB.


EMILIN-1 isoform h1 (human)

An EMILIN-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:Q9Y6C2-1.


EMILIN-1 O-glycosylated 5 (human)

An EMILIN-1 (human) that has been O-glycosylated at the residue equivalent to Ser-483 of the amino acid sequence represented by UniProtKB:Q9Y6C2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y6C2-1, Ser-483, MOD:00002~GNO:G43417UB.


name: EMILIN-1, signal peptide removed form (human)

description: An EMILIN-1 (human) that has had the signal peptide removed. Example: UniProtKB:Q9Y6C2-1, 22-1016.


filamin-A methylated 4 (human)

A filamin-A (human) that has been methylated on the residue at the position equivalent to Cys-1723 of the amino acid sequence represented by UniProtKB:P21333-1. Example: UniProtKB:P21333-1, Cys-1723, MOD:00660.


name: deleted in lung and esophageal cancer protein 1 deaminated 2 (human)

description: A deleted in lung and esophageal cancer protein 1 (human) that has been deaminated on the residue at the position equivalent to Asn-1150 of the amino acid sequence represented by UniProtKB:Q9Y238-1. Example: UniProtKB:Q9Y238-1, Asn-1150, MOD:00684.


name: deleted in lung and esophageal cancer protein 1 isoform h2 (human)

description: A deleted in lung and esophageal cancer protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y238-2.


name: deleted in lung and esophageal cancer protein 1 isoform h1 (human)

description: A deleted in lung and esophageal cancer protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y238-1.


name: deleted in lung and esophageal cancer protein 1 deaminated 1 (human)

description: A deleted in lung and esophageal cancer protein 1 (human) that has been deaminated on the residue at the position equivalent to Gln-964 of the amino acid sequence represented by UniProtKB:Q9Y238-1. Example: UniProtKB:Q9Y238-1, Gln-964, MOD:00685.


name: deleted in lung and esophageal cancer protein 1 isoform h3 (human)

description: A deleted in lung and esophageal cancer protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y238-3.


name: platelet-activating factor acetylhydrolase 2, cytoplasmic methylated 1 (human)

description: A platelet-activating factor acetylhydrolase 2, cytoplasmic (human) that has been methylated on the residue at the position equivalent to Cys-192 of the amino acid sequence represented by UniProtKB:Q99487. UniProtKB:Q99487, Cys-192, MOD:00660.


4'-phosphopantetheine phosphatase

A protein that is a translation product of the human PANK4 gene or a 1:1 ortholog thereof.


name: 4'-phosphopantetheine phosphatase isoform 1 (human)

description: A 4'-phosphopantetheine phosphatase isoform 1 that is encoded in the genome of human.


name: 4'-phosphopantetheine phosphatase cysteinylated 1 (human)

description: A 4'-phosphopantetheine phosphatase (human) that has been cysteinylated on the residue at the position equivalent to Cys-740 of the amino acid sequence represented by UniProtKB:Q9NVE7. UniProtKB:Q9NVE7, Cys-740, MOD:00765.


name: 4'-phosphopantetheine phosphatase methylated 1 (human)

description: A 4'-phosphopantetheine phosphatase (human) that has been methylated on the residue at the position equivalent to Cys-740 of the amino acid sequence represented by UniProtKB:Q9NVE7. UniProtKB:Q9NVE7, Cys-740, MOD:00660.


name: forkhead box protein P1 isoform h1 (human)

description: A forkhead box protein P1 (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:Q9H334-1.


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant P261L phosphorylated 2 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has a Leu residue at the position equivalent to Pro-261 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, Pro-261, CHEBI:30006|Ser-338/Ser-494/Ser-621, MOD:00046|Tyr-341, MOD:00048|Thr-491, MOD:00047.


name: apolipoprotein(a) O-glycosylated 15 (human)

description: An apolipoprotein(a) (human) that has been O-glycosylated at the residue equivalent to Thr-3556 of the amino acid sequence represented by UniProtKB:P08519-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P08519-1, Thr-3556, MOD:00005~GNO:G43417UB.


name: collagen alpha-1(XVIII) chain O-glycosylated 32 (human)

description: A collagen alpha-1(XVIII) chain (human) that has been O-glycosylated at the residue equivalent to Thr-718 of the amino acid sequence represented by UniProtKB:P39060-3, in which the glycan composition is represented by GlyTouCan:G27391WQ. Example: UniProtKB:P39060-3, Thr-718, MOD:00005~GNO:G27391WQ.


A hydroxy fatty-acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 2-hydroxyhexacosanoic acid.


name: Resectable Adenocarcinoma of Unknown Primary

description: An adenocarcinoma of unknown primary that is amenable to surgical resection.


Resectable Carcinoma of Unknown Primary

description: A carcinoma of unknown primary that is amenable to surgical resection.


decorin isoform B (human)

A decorin isoform B that is encoded in the genome of human.


name: macrophage migration inhibitory factor deaminated 1 (human)

description: A macrophage migration inhibitory factor (human) that has been deaminated on the residue at the position equivalent to Asn-110 of the amino acid sequence represented by UniProtKB:P14174. UniProtKB:P14174, Asn-110, MOD:00684.


macrophage migration inhibitory factor

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


name: macrophage migration inhibitory factor isoform 1 (human)

description: A macrophage migration inhibitory factor isoform 1 that is encoded in the genome of human.


name: macrophage migration inhibitory factor, initiator methionine removed form (human)

description: A macrophage migration inhibitory factor (human) that has had the initiator methionine removed. UniProtKB:P14174, 2-115.


name: macrophage migration inhibitory factor methylated 1 (human)

description: A macrophage migration inhibitory factor (human) that has been methylated on the residue at the position equivalent to Cys-81 of the amino acid sequence represented by UniProtKB:P14174. UniProtKB:P14174, Cys-81, MOD:00660.


name: Rho guanine nucleotide exchange factor 7 isoform 3 (human)

description: A Rho guanine nucleotide exchange factor 7 isoform 3 that is encoded in the genome of human.


semenogelin-1 isoform h1 (human)

A semenogelin-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:P04279-1.


semenogelin-1 deaminated 2 (human)

A semenogelin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-303 of the amino acid sequence represented by UniProtKB:P04279-1. Example: UniProtKB:P04279-1, Asn-303, MOD:00684.


name: semenogelin-1, signal peptide removed form (human)

description: A semenogelin-1 (human) that has had the signal peptide removed. UniProtKB:P04279, 24-462.


semenogelin-1 isoform h2 (human)

A semenogelin-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:P04279-2.


semenogelin-1 deaminated 1 (human)

A semenogelin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-363 of the amino acid sequence represented by UniProtKB:P04279-1. Example: UniProtKB:P04279-1, Asn-363, MOD:00684.


A member of the class of  chloroethanes that is ethane substituted by chloro groups at positions 1, 1, 2 and 2.


glomulin

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


glomulin isoform h2 (human)

A glomulin (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:Q92990-2.


name: glomulin, initiator methionine removed form (human)

description: A glomulin (human) that has had the initiator methionine removed. Example: UniProtKB:Q92990-1, 2-594.


glomulin isoform h1 (human)

A glomulin (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:Q92990-1.


hept-6-enoic acid

A heptenoic acid with the double bond at position 6.


secretory meningioma

description: A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.


vertebrate G-type lysozyme

A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464).


lysozyme g-like protein 1

A vertebrate G-type lysozyme that is a translation product of the human LYG1 gene or a 1:1 ortholog thereof.


name: allograft inflammatory factor 1 isoform 1 (human)

description: An allograft inflammatory factor 1 isoform 1 that is encoded in the genome of human.


name: nuclear factor 1 A-type isoform 3 (human)

description: A nuclear factor 1 A-type isoform 3 that is encoded in the genome of human.


name: transcription factor SOX-3 citrullinated 1 (human)

description: A transcription factor SOX-3 (human) that has been citrullinated on the residue at the position equivalent to Arg-172 of the amino acid sequence represented by UniProtKB:P41225. UniProtKB:P41225, Arg-172, MOD:00219.


name: phospholipid phosphatase-related protein type 5 isoform 1 (human)

description: A phospholipid phosphatase-related protein type 5 isoform 1 that is encoded in the genome of human.


Red cell adenylate kinase deficiency

description: An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.


name: anemia due to erythrocyte enzyme disorder

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


name: glycogen storage disease due to phosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.


Deficiency of hexokinase (disorder)

description: A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.


Glucose phosphate isomerase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.


Deficiency of enolase

description: A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.


name: hemolytic anemia due to diphosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


name: Uridine monophosphate hydrolase deficiency

description: An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.


name: semaphorin-3E, signal peptide removed form (human)

description: A semaphorin-3E (human) that has had the signal peptide removed. UniProtKB:O15041, 26-775.


semaphorin-3E isoform 1 (human)

A semaphorin-3E isoform 1 that is encoded in the genome of human.


semaphorin-3E isoform h2 (human)

A semaphorin-3E (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:O15041-2.


name: hippocalcin-like protein 1 isoform 1 (human)

description: A hippocalcin-like protein 1 isoform 1 that is encoded in the genome of human.


name: UDP-glucuronic acid decarboxylase 1 isoform h3 (human)

description: A UDP-glucuronic acid decarboxylase 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:Q8NBZ7-3.


UDP-glucuronic acid decarboxylase 1

A protein that is a translation product of the human UXS1 gene or a 1:1 ortholog thereof.


name: UDP-glucuronic acid decarboxylase 1 cysteinylated 1 (human)

description: A UDP-glucuronic acid decarboxylase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-230 of the amino acid sequence represented by UniProtKB:Q8NBZ7-1. Example: UniProtKB:Q8NBZ7-1, Cys-230, MOD:00765.


name: UDP-glucuronic acid decarboxylase 1 deaminated 1 (human)

description: A UDP-glucuronic acid decarboxylase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-179 of the amino acid sequence represented by UniProtKB:Q8NBZ7-1. Example: UniProtKB:Q8NBZ7-1, Asn-179, MOD:00684.


name: UDP-glucuronic acid decarboxylase 1 isoform 1 (human)

description: A UDP-glucuronic acid decarboxylase 1 isoform 1 that is encoded in the genome of human.


name: UDP-glucuronic acid decarboxylase 1 isoform h2 (human)

description: A UDP-glucuronic acid decarboxylase 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:Q8NBZ7-2.


alpha-L-iduronidase

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


alpha-L-iduronidase isoform h1 (human)

An alpha-L-iduronidase (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:P35475-1.


name: alpha-L-iduronidase deaminated 1 (human)

description: An alpha-L-iduronidase (human) that has been deaminated on the residue at the position equivalent to Gln-281 of the amino acid sequence represented by UniProtKB:P35475-1. Example: UniProtKB:P35475-1, Gln-281, MOD:00685.


alpha-L-iduronidase isoform h2 (human)

An alpha-L-iduronidase (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:P35475-2.


name: alpha-L-iduronidase, signal peptide removed form (human)

description: An alpha-L-iduronidase (human) that has had the signal peptide removed. UniProtKB:P35475, 28-653.


name: alpha-L-iduronidase sequence variant P533R, signal peptide removed form (human)

description: An alpha-L-iduronidase (human) that has an Arg residue at the position equivalent to Pro-533 of the amino acid sequence represented by UniProtKB:P35475-1 and that has had the signal peptide removed. Example: UniProtKB:P35475-1, 28-653, Pro-533, CHEBI:29952.


thiocarbamic ester

Any organonitrogen compound with formula RS-C(=X)NH2 where X = O (monothiocarbamic esters) or S (dithiocarbamic esters), or their N-substituted derivatives.


orbencarb

A monothiocarbamic ester that is carbamothioic S-acid substituted by two ethyl groups at the nitrogen atom and a 2-chlorobenzyl group at the the sulfur atom.


monothiocarbamic ester

A thiocarbamic ester formally derived from a monothiocarbamic acid.


name: protein phosphatase 1 regulatory subunit 12A isoform h5 (human)

description: A protein phosphatase 1 regulatory subunit 12A (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:O14974-5.


metallothionein-1E isoform h2 (human)

A metallothionein-1E (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:P04732-2.


composite hemangioendothelioma

description: An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.


Intermediate Vascular Neoplasm

description: A vascular neoplasm with borderline malignant potential.


name: Endovascular papillary angioendothelioma of childhood

description: A papillary intralymphatic angioendothelioma that occurs during childhood.


name: Intermediate (Locally Aggressive) Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that has locally aggressive behavior.


name: Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma

description: An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs.  In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal.  Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei.  Cytologic atypia is usually mild.  Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region.


name: Intermediate (Rarely Metastasizing) Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that may metastasize on rare occasions.


Intermediate Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that can be locally aggressive, and may metastasize on rare occasions.


description: A pseudomyogenic hemangioendothelioma that occurs during childhood.


description: An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.


description: A kaposiform hemangioendothelioma that occurs during childhood.


Polymorphus Hemangioendothelioma

description: An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of a polymorphic cellular infiltrate.


name: beta-Ala-His dipeptidase O-glycosylated 1 (human)

description: A beta-Ala-His dipeptidase (human) that has been O-glycosylated at the residue equivalent to Ser-29 of the amino acid sequence represented by UniProtKB:Q96KN2-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q96KN2-1, Ser-29, MOD:00002~GNO:G43417UB.


mild ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.


name: C-type lectin domain family 4 member M isoform h10 (human)

description: A C-type lectin domain family 4 member M (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:Q9H2X3-10.


A glycohexaosylceramide having beta-D-Gal-(1->3)-[alpha-L-Fuc-(1->2)]-beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc as the glycohexaosyl component.


name: B-lymphocyte antigen CD19, signal peptide removed form (human)

description: A B-lymphocyte antigen CD19 (human) that has had the signal peptide removed. UniProtKB:P15391, 20-556.


name: B-lymphocyte antigen CD19, signal peptide removed phosphorylated 1 (human)

description: A B-lymphocyte antigen CD19 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 348, 378, 409, 439, 500 and 531 of the amino acid sequence represented by UniProtKB:P15391. UniProtKB:P15391, 20-556, Tyr-348/Tyr-378/Tyr-409/Tyr-439/Tyr-500/Tyr-531, MOD:00048.


name: sodium-dependent phosphate transport protein 4 isoform h1 (human)

description: A sodium-dependent phosphate transport protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00476-1.


name: sodium-dependent phosphate transport protein 4 isoform h2 (human)

description: A sodium-dependent phosphate transport protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00476-2.


name: 5'-3' exoribonuclease 2 isoform h1 (human)

description: A 5'-3' exoribonuclease 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:Q9H0D6-1.


name: T-complex protein 1 subunit theta cysteinylated 2 (human)

description: A T-complex protein 1 subunit theta (human) that has been cysteinylated on the residue at the position equivalent to Cys-187 of the amino acid sequence represented by UniProtKB:P50990-1. Example: UniProtKB:P50990-1, Cys-187, MOD:00765.


name: sjoegren syndrome nuclear autoantigen 1 isoform 1 (human)

description: A microtubule nucleation factor SSNA1 isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 1 (human)

description: A serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 1 that is encoded in the genome of human.


name: cytosolic acyl coenzyme A thioester hydrolase isoform h7 (human)

description: A cytosolic acyl coenzyme A thioester hydrolase (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:O00154-7.


name: sushi, nidogen and EGF-like domain-containing protein 1 isoform h4 (human)

description: A sushi, nidogen and EGF-like domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TER0-5.


name: nicotinamide riboside kinase 2 isoform h1 (human)

description: A nicotinamide riboside 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:Q9NPI5-1.


fibronectin N-glycosylated 39 (human)

A fibronectin (human) that has been N-glycosylated at the residue equivalent to Asn-528 of the amino acid sequence represented by UniProtKB:P02751-15, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:P02751-15, Asn-528, MOD:00160~GNO:G60923RB.


UMP-CMP kinase isoform h2 (human)

A UMP-CMP kinase (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:P30085-2.


UMP-CMP kinase isoform h3 (human)

A UMP-CMP kinase (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:P30085-3.


UMP-CMP kinase isoform h1 (human)

A UMP-CMP kinase (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:P30085-1.


name: homeobox protein DLX-6 isoform h3 (human)

description: A homeobox protein DLX-6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P56179-3.


name: homeobox protein DLX-6 isoform h1 (human)

description: A homeobox protein DLX-6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P56179-1.


name: homeobox protein DLX-6 isoform h2 (human)

description: A homeobox protein DLX-6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P56179-2.


name: kelch-like protein 5 cysteinylated 1 (human)

description: A kelch-like protein 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-334 of the amino acid sequence represented by UniProtKB:Q96PQ7-1. Example: UniProtKB:Q96PQ7-1, Cys-334, MOD:00765.


name: major facilitator superfamily domain-containing protein 4A isoform h1 (human)

description: A major facilitator superfamily domain-containing protein 4A (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:Q8N468-1.


name: major facilitator superfamily domain-containing protein 4A isoform h2 (human)

description: A major facilitator superfamily domain-containing protein 4A (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:Q8N468-2.


Hemolymphangioma

description: A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis.


name: transmembrane protein 25 isoform h4 (human)

description: A transmembrane protein 25 (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:Q86YD3-4.


A member of the class of quinazolines that is 4,6-diaminoquinazoine in which the one of the hydrogens attached to the amino group at position 4 has been replaced by a m-bromophenyl group while one of the hydrogens attached to the amino group at position 6 has been replaced by a but-2-ynoyl group.


name: lysosomal alpha-mannosidase deaminated 3 (human)

description: A lysosomal alpha-mannosidase (human) that has been deaminated on the residue at the position equivalent to Gln-93 of the amino acid sequence represented by UniProtKB:O00754-1. Example: UniProtKB:O00754-1, Gln-93, MOD:00685.


name: cation-independent mannose-6-phosphate receptor deaminated 11 (human)

description: A cation-independent mannose-6-phosphate receptor (human) that has been deaminated on the residue at the position equivalent to Asn-747 of the amino acid sequence represented by UniProtKB:P11717. UniProtKB:P11717, Asn-747, MOD:00684.


name: histidine ammonia-lyase isoform 1 (human)

description: A histidine ammonia-lyase isoform 1 that is encoded in the genome of human.


name: Stage IIIA Childhood Testicular Germ Cell Tumor by Toronto Guidelines v2

description: Any pT, Any N, M1, S0, S1. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


nesprin-2 isoform 1 (human)

A nesprin-2 isoform 1 that is encoded in the genome of human.


chilblain lupus 1

description: Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.


name: hypertrophic or verrucous lupus erythematosus


chilblain lupus 2

description: Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.


name: formin-like protein 3 methylated 4 (human)

description: A formin-like protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-32 of the amino acid sequence represented by UniProtKB:Q8IVF7-1. Example: UniProtKB:Q8IVF7-1, Cys-32, MOD:00660.


name: T-cell receptor-associated transmembrane adapter 1 deaminated 1 (human)

description: A T-cell receptor-associated transmembrane adapter 1 (human) that has been deaminated on the residue at the position equivalent to Asn-104 of the amino acid sequence represented by UniProtKB:Q6PIZ9. UniProtKB:Q6PIZ9, Asn-104, MOD:00684.


protein-tyrosine sulfotransferase 2

A protein that is a translation product of the human TPST2 gene or a 1:1 ortholog thereof.


name: protein-tyrosine sulfotransferase 2 O-glycosylated 1 (human)

description: A protein-tyrosine sulfotransferase 2 (human) that has been O-glycosylated at the residue equivalent to Thr-286 of the amino acid sequence represented by UniProtKB:O60704-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60704-1, Thr-286, MOD:00005~GNO:G43417UB.


name: protein-tyrosine sulfotransferase 2 cysteinylated 1 (human)

description: A protein-tyrosine sulfotransferase 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-96 of the amino acid sequence represented by UniProtKB:O60704. UniProtKB:O60704, Cys-96, MOD:00765.


name: major facilitator superfamily domain-containing protein 3 methylated 1 (human)

description: A major facilitator superfamily domain-containing protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-389 of the amino acid sequence represented by UniProtKB:Q96ES6. UniProtKB:Q96ES6, Cys-389, MOD:00660.


name: lysine-specific demethylase 4C deaminated 1 (human)

description: A lysine-specific demethylase 4C (human) that has been deaminated on the residue at the position equivalent to Gln-442 of the amino acid sequence represented by UniProtKB:Q9H3R0-1. Example: UniProtKB:Q9H3R0-1, Gln-442, MOD:00685.


copine-1 methylated 1 (human)

A copine-1 (human) that has been methylated on the residue at the position equivalent to Cys-30 of the amino acid sequence represented by UniProtKB:Q99829. UniProtKB:Q99829, Cys-30, MOD:00660.


copine-1 deaminated 1 (human)

A copine-1 (human) that has been deaminated on the residue at the position equivalent to Asn-186 of the amino acid sequence represented by UniProtKB:Q99829. UniProtKB:Q99829, Asn-186, MOD:00684.


copine-1 deaminated 2 (human)

A copine-1 (human) that has been deaminated on the residue at the position equivalent to Asn-360 of the amino acid sequence represented by UniProtKB:Q99829. UniProtKB:Q99829, Asn-360, MOD:00684.


copine-1 cysteinylated 1 (human)

A copine-1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-243 of the amino acid sequence represented by UniProtKB:Q99829. UniProtKB:Q99829, Cys-243, MOD:00765.


copine-1 deaminated 3 (human)

A copine-1 (human) that has been deaminated on the residue at the position equivalent to Asn-363 of the amino acid sequence represented by UniProtKB:Q99829. UniProtKB:Q99829, Asn-363, MOD:00684.


name: putative RNA polymerase II subunit B1 CTD phosphatase RPAP2, initiator methionine removed form (human)

description: A putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 (human) that has had the initiator methionine removed. UniProtKB:Q8IXW5, 2-612.


protein PML isoform hPML-2 (human)

A protein PML (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:P29590-8.


name: glutathione S-transferase theta-2, initiator methionine removed form (human)

description: A glutathione S-transferase theta-2 (human) that has had the initiator methionine removed. UniProtKB:P0CG29, 2-244.


glutathione S-transferase theta-2

A glutathione S-transferase theta that is a translation product of the human GSTT2 gene or a 1:1 ortholog thereof.


name: E3 ubiquitin-protein ligase TRAF7 cysteinylated 2 (human)

description: An E3 ubiquitin-protein ligase TRAF7 (human) that has been cysteinylated on the residue at the position equivalent to Cys-551 of the amino acid sequence represented by UniProtKB:Q6Q0C0-1. Example: UniProtKB:Q6Q0C0-1, Cys-551, MOD:00765.


haptoglobin N-glycosylated 80 (human)

A haptoglobin (human) that has been N-glycosylated at the residue equivalent to Asn-241 of the amino acid sequence represented by UniProtKB:P00738-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P00738-1, Asn-241, MOD:00160~GNO:G88374WZ.


(R)-ICLAPRIM

A 5-[(2-cyclopropyl-7,8-dimethoxy-2H-chromen-5-yl)methyl]pyrimidine-2,4-diamine in which the chiral centre has R configuration.


An N-acyl-C14 sphingosine 1-phosphoethanolamine where the acyl group is octadecanoyl.


name: signal recognition particle 19 kDa protein, initiator methionine removed form (human)

description: A signal recognition particle 19 kDa protein (human) that has had the initiator methionine removed. UniProtKB:P09132, 2-144.


name: adenomatous polyposis coli protein sequence variant R283* (human)

description: An adenomatous polyposis coli protein (human) that has has been truncated after the position equivalent to Thr-282 of the amino acid sequence represented by UniProtKB:P25054-1. Example: UniProtKB:P25054-1, 1-282.


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


anillin isoform h2 (human)

An anillin (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:Q9NQW6-2.


Angelucci syndrome

description: Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.


acute conjunctivitis

description: Acute inflammation of the conjunctiva.


acute contagious conjunctivitis

description: Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.


name: integrin beta-like protein 1, signal peptide removed form (human)

description: An integrin beta-like protein 1 (human) that has had the signal peptide removed. Example: UniProtKB:O95965-1, 24-494.


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant P261T phosphorylated 2 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has a Thr residue at the position equivalent to Pro-261 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, Pro-261, CHEBI:30013|Ser-338/Ser-494/Ser-621, MOD:00046|Tyr-341, MOD:00048|Thr-491, MOD:00047.


golgin subfamily A member 4

A protein that is a translation product of the human GOLGA4 gene or a 1:1 ortholog thereof.


name: beta-soluble NSF attachment protein isoform h2 (human)

description: A beta-soluble NSF attachment protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H115-2.


transmembrane 9 superfamily member 1

A protein that is a translation product of the human TM9SF1 gene or a 1:1 ortholog thereof.


name: heat shock factor protein 5 isoform h2 (human)

description: A heat shock factor protein 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:Q4G112-2.