name: type I inositol polyphosphate 5-phosphatase 8 isoform 1 (Arabidopsis thaliana)

description: A type I inositol polyphosphate 5-phosphatase 8 (Arabidopsis thaliana) 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:Q0WT19-1.


name: IP5P8_ARATH Type I inositol polyphosphate 5-phosphatase 8 (sprot)

description: A protein that is a translation product of the IP5P8 gene in Arabidopsis thaliana.


name: E631_DROME Calcium-binding protein E63-1 (sprot)

description: A protein that is a translation product of the Eip63F-1 gene in fruit fly.


name: sperm-associated antigen 6 isoform h1 (human)

description: A sperm-associated antigen 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:O75602-1.


sperm-associated antigen 6

A protein that is a translation product of the human SPAG6 gene or a 1:1 ortholog thereof.


name: E1C6P7_CHICK Sperm associated antigen 6 (trembl)

description: A sperm-associated antigen 6 that is encoded in the genome of chicken.


name: sperm-associated antigen 6 isoform h2 (human)

description: A sperm-associated antigen 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:O75602-2.


name: sperm-associated antigen 6 isoform h5 (human)

description: A sperm-associated antigen 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:O75602-5.


name: SPAG6_HUMAN Sperm-associated antigen 6 (sprot)

description: A sperm-associated antigen 6 that is encoded in the genome of human.


name: sperm-associated antigen 6 isoform h3 (human)

description: A sperm-associated antigen 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:O75602-3.


name: sperm-associated antigen 6 isoform h4 (human)

description: A sperm-associated antigen 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:O75602-4.


name: SPAG6_MOUSE Sperm-associated antigen 6 (sprot)

description: A sperm-associated antigen 6 that is encoded in the genome of mouse.


name: phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform 1 (mouse)

description: A phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform 1 that is encoded in the genome of mouse.


name: transmembrane protein 143 isoform m1 (mouse)

description: A transmembrane protein 143 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8VD26-1.


name: transcription factor Sp4 deaminated 1 (human)

description: A transcription factor Sp4 (human) that has been deaminated on the residue at the position equivalent to Gln-410 of the amino acid sequence represented by UniProtKB:Q02446. UniProtKB:Q02446, Gln-410, MOD:00685.


The pentacyclic triterpenoid that is the 11alpha-hydroxy derivative of beta-amyrin.


name: ATPase family AAA domain-containing protein 5 deaminated 1 (human)

description: An ATPase family AAA domain-containing protein 5 (human) that has been deaminated on the residue at the position equivalent to Asn-632 of the amino acid sequence represented by UniProtKB:Q96QE3-1. Example: UniProtKB:Q96QE3-1, Asn-632, MOD:00684.


name: formamidopyrimidine-DNA glycosylase, initiator methionine removed form

description: A formamidopyrimidine-DNA glycosylase that has had the initiator methionine removed.


arylsulfatase H deaminated 1 (human)

An arylsulfatase H (human) that has been deaminated on the residue at the position equivalent to Gln-336 of the amino acid sequence represented by UniProtKB:Q5FYA8. UniProtKB:Q5FYA8, Gln-336, MOD:00685.


name: ASH1_CANAL Transcriptional regulatory protein ASH1 (sprot)

description: A protein that is a translation product of the ASH1 gene in Candida albicans SC5314.


name: YQD3_SCHPO Uncharacterized transporter PB1C11.03 (sprot)

description: A protein that is a translation product of the SPCPB1C11.03 gene in Schizosaccharomyces pombe 972h-.


name: ALK tyrosine kinase receptor sequence variant L1196N, signal peptide removed form (human)

description: An ALK tyrosine kinase receptor (human) that has an Asn residue at the position equivalent to Leu-1196 of the amino acid sequence represented by UniProtKB:Q9UM73 and that has had the signal peptide removed. UniProtKB:Q9UM73, 19-1620, Leu-1196, CHEBI:50347.


name: YEBS_ECOLI Intermembrane transport protein YebS (sprot)

description: An intermembrane transport protein YebS that is encoded in the genome of Escherichia coli K-12.


intermembrane transport protein YebS

A protein that is a translation product of the Escherichia coli K-12 yebS gene or a 1:1 ortholog thereof.


priapism

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

description: Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.


erectile dysfunction

description: Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.


An S-acyl-4'-phosphopantetheine obtained by formal condensation of the thiol group of D-pantetheine 4'-phosphate with one of the carboxy groups of malonic acid.


spermine oxidase isoform m3 (mouse)

A spermine oxidase (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99K82-3.


name: AK2_ARATH Aspartokinase 2, chloroplastic (sprot)

description: A protein that is a translation product of the AK2 gene in Arabidopsis thaliana.


netrin receptor UNC5C isoform 1 (human)

A netrin receptor UNC5C isoform 1 that is encoded in the genome of human.


name: DPB2_SCHPO DNA polymerase epsilon subunit B (sprot)

description: A DNA polymerase epsilon subunit 2 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: DUS3L_HUMAN tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (sprot)

description: A tRNA-dihydrouridine synthase 3-like that is encoded in the genome of human.


name: tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h2 (human)

description: A tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (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:Q96G46-2.


name: tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h3 (human)

description: A tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (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:Q96G46-3.


name: tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h1 (human)

description: A tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (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:Q96G46-1.


pyrazoxyfen

A member of the class of pyrazoles that is 1,3-dimethylpyrazole which is substituted at positions 4 and 5 by  2,4-dichlorobenzoyl and 2-oxo-2-phenylethoxy groups, respectively. A pro-herbicide (for the corresponding 5-hydroxypyrazole), it is used as a pre- or post-emergence herbicide for the control of annual and perennial weeds in rice.


name: NHS-like protein 3 phosphorylated 1 (human)

description: An NHS-like protein 3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-327 of the amino acid sequence represented by UniProtKB:Q9P206-1. Example: UniProtKB:Q9P206-1, Ser-327, MOD:00046.


name: zinc finger and SCAN domain-containing protein 22

description: A protein that is a translation product of the human ZSCAN22 gene or a 1:1 ortholog thereof.


name: ZSC22_HUMAN Zinc finger and SCAN domain-containing protein 22 (sprot)

description: A zinc finger and SCAN domain-containing protein 22 that is encoded in the genome of human.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 that is encoded in the genome of human.


name: U4/U6 small nuclear ribonucleoprotein Prp31

description: A protein that is a translation product of the human PRPF31 gene or a 1:1 ortholog thereof.


name: PRP31_YEAST Pre-mRNA-processing factor 31 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of yeast.


name: U4/U6 small nuclear ribonucleoprotein Prp31 methylated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (human) that has been methylated on the residue at the position equivalent to Cys-247 of the amino acid sequence represented by UniProtKB:Q8WWY3-1. Example: UniProtKB:Q8WWY3-1, Cys-247, MOD:00660.


name: PRP31_SCHPO Pre-mRNA-processing factor 31 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform m4 (mouse)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CCF0-4.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1

description: A U4/U6 small nuclear ribonucleoprotein Prp31 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:Q8WWY3-1 or a 1:1 ortholog thereof.


name: PRP31_ARATH U4/U6 small nuclear ribonucleoprotein Prp31 homolog (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of Arabidopsis thaliana.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 (mouse)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1 that is encoded in the genome of mouse.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform h4 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (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:Q8WWY3-4.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform h3 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (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:Q8WWY3-3.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform h2 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (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:Q8WWY3-2.


name: PRP31_DANRE U4/U6 small nuclear ribonucleoprotein Prp31 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of zebrafish.


name: U4/U6 small nuclear ribonucleoprotein Prp31 isoform m2 (mouse)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CCF0-2.


name: U4/U6 small nuclear ribonucleoprotein Prp31 deaminated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (human) that has been deaminated on the residue at the position equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:Q8WWY3-1. Example: UniProtKB:Q8WWY3-1, Asn-144, MOD:00684.


name: PRP31_HUMAN U4/U6 small nuclear ribonucleoprotein Prp31 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of human.


name: U4/U6 small nuclear ribonucleoprotein Prp31 cysteinylated 1 (human)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 (human) that has been cysteinylated on the residue at the position equivalent to Cys-247 of the amino acid sequence represented by UniProtKB:Q8WWY3-1. Example: UniProtKB:Q8WWY3-1, Cys-247, MOD:00765.


name: PRP31_MOUSE U4/U6 small nuclear ribonucleoprotein Prp31 (sprot)

description: A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of mouse.


taste receptor type 2 member 5

A taste receptor type 2 that is a translation product of the human TAS2R5 gene or a 1:1 ortholog thereof.


name: TA2R5_HUMAN Taste receptor type 2 member 5 (sprot)

description: A taste receptor type 2 member 5 that is encoded in the genome of human.


name: RBL20_ARATH Rhomboid-like protein 20 (sprot)

description: A protein that is a translation product of the RBL20 gene in Arabidopsis thaliana.


RGL3_ARATH DELLA protein RGL3 (sprot)

A protein that is a translation product of the RGL3 gene in Arabidopsis thaliana.


name: probable inactive purple acid phosphatase 14 isoform 3 (Arabidopsis thaliana)

description: A probable inactive purple acid phosphatase 14 (Arabidopsis thaliana) 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:Q84LR6-3.


name: potassium channel subfamily K member 2 isoform 2 (mouse)

description: A potassium channel subfamily K member 2 isoform 2 that is encoded in the genome of mouse.


name: CLSB_ECOLI Cardiolipin synthase B (sprot)

description: A cardiolipin synthase B that is encoded in the genome of Escherichia coli K-12.


name: Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm

description: A malignant solid neoplasm that expresses unique tumor-specific neoantigens in a single patient.


name: NU3M_RAT NADH-ubiquinone oxidoreductase chain 3 (sprot)

description: An NADH-ubiquinone oxidoreductase chain 3 that is encoded in the genome of rat.


fibulin-2 O-glycosylated 9 (human)

A fibulin-2 (human) that has been O-glycosylated at the residue equivalent to Thr-210 of the amino acid sequence represented by UniProtKB:P98095-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P98095-1, Thr-210, MOD:00005~GNO:G58001LT.


name: IQ calmodulin-binding motif-containing protein 1 isoform 1 (mouse)

description: An IQ calmodulin-binding motif-containing protein 1 isoform 1 that is encoded in the genome of mouse.


name: MRKA_DICDI Probable serine/threonine-protein kinase MARK-A (sprot)

description: A protein that is a translation product of the mrkA gene in Dictyostelium discoideum.


name: CST complex subunit CTC1 isoform 3 (Arabidopsis thaliana)

description: A CST complex subunit CTC1 (Arabidopsis thaliana) 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:D0EL35-3.


name: ZN768_MOUSE Zinc finger protein 768 (sprot)

description: A zinc finger protein 768 that is encoded in the genome of mouse.


name: E3 ubiquitin-protein ligase UBR7 isoform 1 (mouse)

description: A putative E3 ubiquitin-protein ligase UBR7 isoform 1 that is encoded in the genome of mouse.


name: ITIH5_MOUSE Inter-alpha-trypsin inhibitor heavy chain H5 (sprot)

description: An inter-alpha-trypsin inhibitor heavy chain H5 that is encoded in the genome of mouse.


leiomodin-3 isoform h2 (human)

A leiomodin-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:Q0VAK6-2.


D-glucaric acid

The D-enantiomer of glucaric acid.


name: serine/threonine-protein kinase 26 isoform h2 (human)

description: A serine/threonine-protein kinase 26 (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:Q9P289-2.


name: fibroblast growth factor receptor 2 sequence variant N549H, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 (human) that has a His residue at the position equivalent to Asn-549 of the amino acid sequence represented by UniProtKB:P21802-1 and that has had the signal peptide removed. Example: UniProtKB:P21802-1, 22-821, Asn-549, CHEBI:29979.


phenylpropanolamine

An amphetamine in which the parent 1-phenylpropan-2-amine skeleton is substituted at position 1 with an hydroxy group. A decongestant and appetite suppressant, it is commonly used in prescription and over-the-counter cough and cold preparations.


name: LIM/homeobox protein Lhx5 isoform 1 (human)

description: A LIM/homeobox protein Lhx5 isoform 1 that is encoded in the genome of human.


name: pleckstrin homology domain-containing family B member 1 isoform h3 (human)

description: A pleckstrin homology domain-containing family B member 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:Q9UF11-3.


name: ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform 1 (mouse)

description: An ATP-dependent (S)-NAD(P)H-hydrate dehydratase (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9CZ42-1.


name: activating signal cointegrator 1 complex subunit 3 methylated 3 (human)

description: An activating signal cointegrator 1 complex subunit 3 (human) that has been methylated on the residue at the position equivalent to Cys-1343 of the amino acid sequence represented by UniProtKB:Q8N3C0-1. Example: UniProtKB:Q8N3C0-1, Cys-1343, MOD:00660.


name: lysosome membrane protein 2 N-glycosylated 8 (human)

description: A lysosome membrane protein 2 (human) that has been N-glycosylated on the residue at the position equivalent to Asn-224 of the amino acid sequence represented by UniProtKB:Q14108-1. Example: UniProtKB:Q14108-1, Asn-224, MOD:00160.


name: B Acute Lymphoblastic Leukemia with TCF3-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with HLF gene rearrangement. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with TCF4-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF4-HLF gene rearrangement resulting in the formation of TCF4-HLF chimeric transcription factor. The prognosis is poor.


name: importin subunit alpha-6 isoform 1 (zebrafish)

description: An importin subunit alpha-6 isoform 1 that is encoded in the genome of zebrafish.


name: disks large 1 tumor suppressor protein isoform G (fruit fly)

description: A disks large 1 tumor suppressor protein (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P31007-5.


name: cation channel sperm-associated auxiliary subunit delta isoform h2 (human)

description: A cation channel sperm-associated auxiliary subunit delta (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:Q86XM0-2.


name: cation channel sperm-associated auxiliary subunit delta

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


name: cation channel sperm-associated auxiliary subunit delta isoform m2 (mouse)

description: A cation channel sperm-associated auxiliary subunit delta (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:E9Q9F6-2.


name: cation channel sperm-associated auxiliary subunit delta isoform r2 (rat)

description: A cation channel sperm-associated auxiliary subunit delta (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:B5DFM7-2.


name: cation channel sperm-associated auxiliary subunit delta isoform m1 (mouse)

description: A cation channel sperm-associated auxiliary subunit delta (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:E9Q9F6-1.


name: CTSRD_RAT Cation channel sperm-associated auxiliary subunit delta (sprot)

description: A cation channel sperm-associated auxiliary subunit delta that is encoded in the genome of rat.


name: CTSRD_MOUSE Cation channel sperm-associated auxiliary subunit delta (sprot)

description: A cation channel sperm-associated auxiliary subunit delta that is encoded in the genome of mouse.


name: cation channel sperm-associated auxiliary subunit delta isoform r1 (rat)

description: A cation channel sperm-associated auxiliary subunit delta (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:B5DFM7-1.


name: cation channel sperm-associated auxiliary subunit delta isoform m3 (mouse)

description: A cation channel sperm-associated auxiliary subunit delta (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:E9Q9F6-3.


name: CTSRD_HUMAN Cation channel sperm-associated auxiliary subunit delta (sprot)

description: A cation channel sperm-associated auxiliary subunit delta that is encoded in the genome of human.


name: cation channel sperm-associated auxiliary subunit delta, signal peptide removed form (human)

description: A cation channel sperm-associated auxiliary subunit delta (human) that has had the signal peptide removed. UniProtKB:Q86XM0, 21-798.


name: cation channel sperm-associated auxiliary subunit delta isoform h1 (human)

description: A cation channel sperm-associated auxiliary subunit delta (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:Q86XM0-1.


uncharacterized protein YjiK

A protein that is a translation product of the Escherichia coli K-12 yjiK gene or a 1:1 ortholog thereof.


name: YJIK_ECOLI Uncharacterized protein YjiK (sprot)

description: An uncharacterized protein YjiK that is encoded in the genome of Escherichia coli K-12.


name: squamous cell carcinoma antigen recognized by T-cells 3 methylated 1 (human)

description: A squamous cell carcinoma antigen recognized by T-cells 3 (human) that has been methylated on the residue at the position equivalent to Cys-812 of the amino acid sequence represented by UniProtKB:Q15020-1. Example: UniProtKB:Q15020-1, Cys-812, MOD:00660.


name: RWD domain-containing protein 2B cysteinylated 1 (human)

description: An RWD domain-containing protein 2B (human) that has been cysteinylated on the residue at the position equivalent to Cys-70 of the amino acid sequence represented by UniProtKB:P57060. UniProtKB:P57060, Cys-70, MOD:00765.


Retinal fold

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

description: A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.


name: Retinal detachments and defects, unspecified

description: An imperfection if the retina of the eye in association with detachment of the retina from its blood supply.


retinal detachment

description: An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.


Retinal defect, unspecified

description: An imperfection of the retina of the eye.


rhegmatogenous retinal detachment

description: Retinal detachment secondary to retinal tear or break.


Tractional retinal detachment

description: A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


Exudative retinal detachment

description: A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.


name: inhibitor of growth protein 3 isoform h3 (human)

description: An inhibitor of growth protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NXR8-3.


name: ING3_HUMAN Inhibitor of growth protein 3 (sprot)

description: An inhibitor of growth protein 3 that is encoded in the genome of human.


name: inhibitor of growth protein 3 isoform h1 (human)

description: An inhibitor of growth protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NXR8-1.


name: inhibitor of growth protein 3 isoform h2 (human)

description: An inhibitor of growth protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NXR8-2.


D-aspartate oxidase isoform 1 (mouse)

A D-aspartate oxidase isoform 1 that is encoded in the genome of mouse.


name: YLII_ECOLI Aldose sugar dehydrogenase YliI (sprot)

description: An aldose sugar dehydrogenase YliI that is encoded in the genome of Escherichia coli K-12.


name: PURL_BRUSI Phosphoribosylformylglycinamidine synthase subunit PurL (sprot)

description: A phosphoribosylformylglycinamidine synthase subunit PurL that is encoded in the genome of Brucella suis ATCC 23445.


name: N-terminal EF-hand calcium-binding protein 2 isoform m1 (mouse)

description: An N-terminal EF-hand calcium-binding protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q91ZP9-1.


curtisian C

A para-terphenyl that consists of 1,4-diphenylbenzene substituted by acetyloxy group at position 3', hydroxy groups at positions 4 and 4'' a (3-hydroxybutanoyl)oxy group at position 6' and [3-(acetyloxy)butanoyl]oxy groups at positions 2' and 5' respectively. It is isolated from the fruit body of the mushroom Paxillus curtisii and exhibits radical scavenging activity.


name: chromosome 4Q32.1-q32.2 triplication syndrome


name: partial duplication of the long arm of chromosome 4

description: Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.


distal trisomy 4q

description: Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.


name: probable S-adenosylmethionine-dependent methyltransferase At5g38100 isoform 2 (Arabidopsis thaliana)

description: A probable S-adenosylmethionine-dependent methyltransferase At5g38100 (Arabidopsis thaliana) 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:Q9LS10-2.


bretylium

A quaternary ammonium cation having 2-bromobenzyl, ethyl and two methyl groups attached to the nitrogen. It blocks noradrenaline release from the peripheral sympathetic nervous system, and is used in emergency medicine, cardiology, and other specialties for the acute management of ventricular tachycardia and ventricular fibrillation.


name: transmembrane protein 40 isoform h3 (human)

description: A transmembrane protein 40 (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:Q8WWA1-3.


name: TMM40_HUMAN Transmembrane protein 40 (sprot)

description: A transmembrane protein 40 that is encoded in the genome of human.


name: transmembrane protein 40 isoform h1 (human)

description: A transmembrane protein 40 (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:Q8WWA1-1.


name: transmembrane protein 40 isoform h2 (human)

description: A transmembrane protein 40 (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:Q8WWA1-2.


A nitrile that is acetonitrile where one of the methyl hydrogens is substituted by a 2-thienyl group.


name: TAPT1_DANRE Transmembrane anterior posterior transformation protein 1 homolog (sprot)

description: A protein that is a translation product of the tapt1 gene in zebrafish.


name: UBR1_CAEEL E3 ubiquitin-protein ligase ubr-1 (sprot)

description: A protein that is a translation product of the ubr-1 gene in worm.


name: Q54WW2_DICDI Uncharacterized protein (trembl)

description: An opiorphin prepropeptide that is encoded in the genome of Dictyostelium discoideum.


name: AP1B_DICDI AP-1 complex subunit beta (sprot)

description: An AP-1 complex subunit beta-1 that is encoded in the genome of Dictyostelium discoideum.


Chronic gouty nephropathy

description: Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium.


Non-Neoplastic Kidney Disorder

description: A non-neoplastic disorder that affects the renal parenchyma and/or renal pelvis. Representative examples include glomerulonephritis and pyelonephritis.


Minimal mesangial lupus nephritis

description: A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.


Nephrotic Syndrome - ADCK4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene.


multicystic dysplastic kidney

description: Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.


rapidly progressive glomerulonephritis

description: Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.


Nephrotic Syndrome - MYO1E Associated

description: Nephrotic syndrome attributed to mutation(s) in the MYO1E gene.


karyomegalic interstitial nephritis

description: Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.


Obesity Related Glomerulopathy

description: Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity.


name: tubulointerstitial kidney disease, autosomal dominant, 2

description: An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.


Proximal tubulopathy

description: Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.


Thrombosis of renal artery

description: The formation of a thrombus in the renal artery.


name: Crouzon syndrome-acanthosis nigricans syndrome

description: Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).


Membranous Nephropathy - THSD7A Induced

description: Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies.


name: Pauci-Immune Glomerulonephritis - Renal Limited

description: Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney.


Acute Cortical Necrosis

description: Acute kidney injury caused by ischemic necrosis of the renal cortex.


steroid-resistant nephrotic syndrome

description: Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.


end stage renal failure

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.


Nephropathy due to Ciclosporin

description: Kidney damage resulting from ciclosporin.


name: Chronic kidney disease due to hypertension

description: Longstanding kidney disease as a complication of hypertension.


Stage 1 chronic kidney disease

description: A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).


name: Nephrotic Syndrome - Simian Virus 40 Associated

description: Nephrotic syndrome associated with a simian virus 40 infection.


name: Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease

description: Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions.


Pierson syndrome

description: Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.


name: Nephrotic Syndrome - Human Immunodeficiency Virus Associated

description: Nephrotic syndrome associated with human immunodeficiency virus infection.


pyonephrosis

description: Pus within the collecting system of the kidney.


Uric acid nephropathy acute

description: Kidney damage resulting from uric acid precipitation within the renal tubules.


contrast-induced nephropathy

description: Kidney damage resulting from exposure to contrast agents.


Diffuse lupus nephritis

description: A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.


description: Tubulointerstitial nephritis resulting from a drug exposure.


Renal Pelvis Fibroepithelial Polyp

description: A benign, mesodermal tumor located in the renal pelvis.


name: Nephrotic syndrome with lesion of proliferative glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells and expansion of the mesangial matrix. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Reflux nephropathy (disorder)

description: Chronic kidney damage due to vesicoureteral reflux.


Nephropathy due to Tacrolimus

description: Kidney damage resulting from tacrolimus.


chronic kidney disease

description: Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.


name: Congenital Nephrotic Syndrome - Rubivirus Associated

description: Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life.


nephrocalcinosis

description: Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.


name: Nephrotic Syndrome - Infection Associated

description: Nephrotic syndrome associated with an infectious process.


Glomerular vascular disorder

description: A disorder that is caused by pathologic changes in the glomerular vasculature.


name: Nephrotic Syndrome - SMARCAL1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene.


focal segmental glomerulosclerosis

description: A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.


name: glomerulopathy with fibronectin deposits 2

description: Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.


Nephrotic Syndrome - CFH Associated

description: Nephrotic syndrome attributed to mutation(s) in the CFH gene.


acute pyelonephritis

description: Sudden onset pyelonephritis.


Chronic glomerulonephritis

description: A chronic, persistent inflammation of the glomeruli, which is slowly progressive, leading to impaired kidney function.


name: Acute renal papillary necrosis with renal failure

description: Sudden and sustained deterioration of the kidney function with decreased glomerular filtration rate, and concommittant necrosis of the renal papillae; representative causes include sickle cell disease, heave analgesic use, diabetes mellitus, and pyelonephritis.


nephritis

description: Inflammation of renal tissue.


Nephrotic Syndrome - ITGA3 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene.


name: Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis

description: Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present.


Nephropathy due to Aminoglycosides

description: Kidney damage resulting from aminoglycosides.


description: Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.


name: Chronic glomerulonephritis with lesion of membranous glomerulonephritis

description: A slowly progressive inflammation of the glomeruli characterized by immune complex deposits on the epithelial side of the glomerular basement membrane.


description: Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.


name: Membranous Nephropathy - Autoimmune Disorder Associated

description: Membranous nephropathy associated with an autoimmune disorder.


Nephrotic Syndrome - CRB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the CRB2 gene.


obstructive nephropathy

description: Renal damage and impaired renal function secondary to urinary tract obstruction.


Familial immunoglobulin A nephropathy

description: IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring.


Acquired calyceal diverticulum

description: An out-pouching of the calyx into the renal parenchyma.


cystic kidney disease

description: A congenital or acquired kidney disorder characterized by the presence of renal cysts.


Nephrotic Syndrome - PDSS2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene.


name: Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by scarring of some of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


diffuse glomerulonephritis

description: Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.


Nephrotic Syndrome - COQ2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the COQ2 gene.


name: Systemic Lupus Erythematosus Nephritis Class V

description: Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Hantavirus nephropathy

description: Tubulointerstitial hemorrhage resulting from hantavirus infection.


Henoch-Schonlein purpura nephritis

description: Glomerulonephritis in the context of Henoch-Schönlein purpura.


name: Chronic Kidney Disease due to Diabetes Mellitus

description: Longstanding kidney disease as a complication of diabetes.


Renal infarction

description: Ischemic necrosis of the kidney caused by interruption of the blood supply to the area.


Steroid-dependent nephrotic syndrome

description: A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.


name: Acute Kidney Injury with Renal Replacement Therapy Related to COVID-19

description: Abrupt reduction in kidney function as measured by urine output and renal biomarkers requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.


Leptospirosis Nephropathy

description: Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury.


idiopathic nephrotic syndrome

description: Nephrotic syndrome for which no cause has been identified.


Cryoglobulinemic glomerulonephritis

description: Glomerulonephritis in the context of cryoglobulinemia.


name: Chemotherapeutic Drug - Induced Nephropathy

description: Kidney damage resulting from exposure to chemotherapeutic drugs.


IgM - Associated Nephropathy

description: A condition characterized by deposition of IgM antibody in the glomerulus.


diabetic kidney disease

description: Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.


NSAID-Induced Nephropathy

description: Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs).


Idiopathic Membranous Glomerulopathy

description: Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown.


Microcystic renal disease

description: A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla.


Focal lupus nephritis

description: A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations


Idiopathic Renal Papillary Necrosis

description: Necrosis of the renal papillae, for which no underlying cause has been identified.


Diffuse glomerulosclerosis

description: A renal disorder characterized by glomerular damage due to ischemia. It leads to progressive deterioration of renal function.


name: Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by a chronic inflammatory reaction in the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


name: Systemic Lupus Erythematosus Nephritis Class IV G

description: Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


name: Nephrotic Syndrome - ARHGAP24 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene.


chronic renal failure syndrome

description: Impairment of the renal function due to chronic kidney damage.


familial nephrotic syndrome

description: An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.


Stage 4 chronic kidney disease

description: A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).


proliferative glomerulonephritis

description: A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.


Chronic kidney disease stage 3B

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 30-44 ml/min.


Advanced sclerotic lupus nephritis

description: A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.


name: Calcineurin Inhibitor - Induced Nephropathy

description: Kidney damage resulting from exposure to calcineurin inhibitors.


name: Congenital Nephrotic Syndrome - Cytomegalovirus Associated

description: Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life.


name: Light Chain Proximal Tubulopathy without Crystals

description: A morphologic variant of light chain proximal tubulopathy with no evidence of crystal formation. It is characterized by acute tubular injury with no evidence lysosomal immunoglobulin crystals.


kidney disorder

description: A disease involving the kidney.


name: familial juvenile hyperuricemic nephropathy type 1

description: A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.


Nephrotic Syndrome - CD2AP Associated

description: Nephrotic syndrome attributed to mutation(s) in the CD2AP gene.


polycystic kidney disease 2

description: Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.


name: Nephrotic Syndrome - Toxoplasmosis Associated

description: Nephrotic syndrome associated with a toxoplasmosis infection.


Nephrotic Syndrome - ARHGDIA Associated

description: Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene.


Acute glomerulonephritis

description: An acute inflammation of the glomeruli, generally secondary to infection or injury.


name: Nephrotic Syndrome - Syphilis Associated

description: Nephrotic syndrome associated with a syphilis infection.


Nephrotic Syndrome - NPHS2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene.


name: C3 Glomerulopathy with Monoclonal Gammopathy

description: A subset of C3 glomerulopathy in which there is an associated finding of monoclonal gammopathy.


Nephrotic Syndrome - CUBN Associated

description: Nephrotic syndrome attributed to mutation(s) in the CUBN gene.


crescentic glomerulonephritis

description: A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.


Malignant Hypertensive Nephropathy

description: Hypertensive nephropathy secondary to malignant hypertension.


lupus nephritis

description: Glomerulonephritis in the context of systemic lupus erythematosus.


name: Systemic Lupus Erythematosus Nephritis Class IV S

description: Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Lithium - Induced Nephropathy

description: Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus.


Secondary Collapsing Glomerulopathy

description: Collapsing glomerulopathy for which an underlying cause has been identified.


Focal Segmental Glomerulosclerosis 7

description: An autosomal dominant type of focal segmental glomerulosclerosis caused by mutation(s) in the PAX2  gene, encoding which paired box protein Pax-2.


polycystic kidney disease

description: A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.


Postpartum acute renal failure

description: Renal failure that occurs postpartum due to any partum problem (hemorrhage, sepsis, preeclampsia).


Nephrotic Syndrome - INF2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the INF2 gene.


name: Congenital Nephrotic Syndrome - Toxoplasma Associated

description: Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life.


xanthogranulomatous pyelonephritis

description: Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.


Nephrotic Syndrome - ANLN Associated

description: Nephrotic syndrome attributed to mutation(s) in the ANLN gene.


Acute cellular allograft nephropathy

description: A sudden onset of T-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.


Scleroderma renal crisis

description: The onset of acute renal failure, normally coupled with marked hypertension in a patient with scleroderma.


HIV-associated nephropathy

description: Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.


chronic pyelonephritis

description: Persistent pyelonephritis.


Nephrotic Syndrome - EMP2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the EMP2 gene.


name: Membranous Nephropathy - Malignancy Associated

description: Membranous nephropathy in the context of malignancy.


kidney hypertrophy

description: Global enlargement of the renal parenchyma in one or both kidneys.


name: Acute Kidney Injury without Renal Replacement Therapy Related to COVID-19

description: Abrupt reduction in kidney function as measured by urine output and renal biomarkers but not requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.


name: Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries due to the deposition of immune complexes and subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


acute urate nephropathy

description: Urolithiasis in which the composition of the stones is predominantly urate.


acute kidney failure

description: Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.


lipoid nephrosis

description: A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.


hypertensive nephropathy

description: Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.


name: Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis

description: Nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected.


name: autosomal dominant polycystic kidney disease

description: Autosomal dominant form of polycystic kidney disease.


Ischemic nephropathy

description: Nephropathy due to hypoperfusion of the kidney.


name: Nephrotic Syndrome - Frequently Relapsing

description: Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year.


name: Nephrotic Syndrome - Infrequently Relapsing

description: Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year.


Balkan nephropathy

description: A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.


name: Nephrotic Syndrome - Hepatitis B Virus Associated

description: Nephrotic syndrome associated with hepatitis B.


name: nephrotic syndrome of childhood - steroid sensitive

description: Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.


Arterionephrosclerosis

description: Scarring and atrophy of the renal cortex that occurs in hypertensive patients and in old age.


renal artery disease

description: A disease involving the renal artery.


Dent disease

description: Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


Nephropathy due to Cisplatin

description: Kidney damage resulting from cisplatin.


description: Membranous nephropathy associated with infectious disease.


cystinosis

description: Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.


Renal transplant rejection

description: A sudden immune response occurring after transplantation, directed against donor kidney alloantigens.


Acute humoral allograft nephropathy

description: A sudden onset of B-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.


name: Nephropathy Associated with Rhabdomyolysis

description: Nephropathy associated with rhabdomyolysis.


IgA Nephropathy, Infection-associated

description: IgA nephropathy co-occurring with infectious disease.


acute kidney tubular necrosis

description: Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.


Nephrotic Syndrome - LAMB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene.


name: Primary Focal Segmental Glomerulosclerosis

description: Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified.


name: autosomal recessive polycystic kidney disease

description: An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.


Nephropathy due to Analgesic Drugs

description: Kidney damage resulting from analgesic drugs.


Complex renal cyst

description: A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.


glomerular disorder

description: A disease involving the renal glomerulus.


C3 glomerulonephritis

description: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.


polycystic kidney disease 1

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.


name: Nephrotic Syndrome - Cytomegalovirus Associated

description: Nephrotic syndrome associated with a cytomegalovirus infection.


Tip Lesion Glomerulopathy

description: Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule.


Bone Marrow Transplantation Nephropathy

description: Kidney dysfunction resulting from complications of bone marrow transplantation.


IgA glomerulonephritis

description: Inflammation of a specific segment of glomeruli within the kidney.


Schistosomiasis Nephropathy

description: Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy.


Chronic kidney disease stage 3A

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 45-59 ml/min.


acute diffuse glomerulonephritis

description: An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.


name: Secondary focal segmental glomerulosclerosis

description: Focal segmental glomerulosclerosis due to another medical condition.


Bisphosphonate - Induced Nephropathy

description: Kidney damage resulting from exposure to bisphosphonates.


Stage 2 chronic kidney disease

description: A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).


nephronophthisis

description: Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.


Nephrotic Syndrome - DGKE Associated

description: Nephrotic syndrome attributed to mutation(s) in the DGKE gene.


Nephrotic Syndrome - TRPC6 Associated

description: Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene.


nephronophthisis 1

description: Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.


Calcineurin Nephrotoxicity

description: Kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function.


interstitial nephritis

description: Inflammation of the renal tubules and supporting tissues of the kidney.


Primary Collapsing Glomerulopathy

description: Collapsing glomerulopathy for which no underlying cause has been identified.


immunotactoid glomerulopathy

description: Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.


Nephrotic Syndrome - LMX1B Associated

description: Nephrotic syndrome attributed to mutation(s) in the LMX1B gene.


Drug-induced Nephropathy

description: Kidney damage resulting from exposure to drugs.


name: Congenital Nephrotic Syndrome - Treponema Pallidum Associated

description: Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life.


Radiation Nephropathy

description: Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules.


name: Focal Segmental Glomerulosclerosis Collapsing Variant

description: A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


description: Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.


name: Focal Segmental Glomerulosclerosis Cellular Variant

description: A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


nephrotic syndrome

description: A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.


name: Membranous Nephropathy - Drug Associated

description: Membranous nephropathy associated with exposure to a drug.


name: Focal AND segmental proliferative glomerulonephritis

description: Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern.


Multiple glomerular cysts

description: The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.


name: Chronic glomerulonephritis with lesion of proliferative glomerulonephritis

description: A slowly progressive inflammation of the glomeruli occurring status post infection with streptococcus.


exudative glomerulonephritis

description: Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.


membranous glomerulonephritis

description: A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.


Nephrotic Syndrome - PLCE1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene.


kidney failure

description: An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.


pyelitis

description: Inflammation of the renal pelvis.


Membranous Nephropathy - Secondary

description: Membranous nephropathy due to another medical condition.


Nephrotic Syndrome - Relapse

description: Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission.


Nephrotic Syndrome - ACTN4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene.


name: Proliferative Glomerulonephritis with Monoclonal IgG Deposits

description: A sub-type of monoclonal gammopathy of renal significance, characterized by restriction to a single immunoglobulin G heavy chain subclass and a single light chain isotype. Light microscopy often shows an endocapillary proliferative or membranoproliferative glomerulopathy. Electron microscopy reveals electron-dense subendothelial and mesangial deposits.


nephropathic cystinosis

description: An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.


name: Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis

description: Nephrotic syndrome caused by glomerulonephritis associated with complement deficiency. It can result from an acute post-infectious glomerulonephritis, membranoproliferative glomerulonephritis or lupus glomerulonephritis.


Prevalent Nephrotic Syndrome

description: Pre-existing nephrotic syndrome.


Antimicrobial - Induced Nephropathy

description: Kidney damage resulting from exposure to antimicrobials.


Chronic Kidney Disease, Stage 0

description: Long-standing and persistent renal disease without kidney damage.


Glomerulomegaly

description: Abnormally large size of glomeruli.


name: IgA nephropathy associated with liver disease

description: IgA nephropathy secondary to hepatobiliary disease.


name: Nephrotic Syndrome - Parvovirus B19 Associated

description: Nephrotic syndrome associated with a parvovirus B19 infection.


Nephrotic Syndrome - MEFV Associated

description: Nephrotic syndrome attributed to mutation(s) in the MEFV gene.


name: Nephrotic Syndrome - Epstein-Barr Virus Associated

description: Nephrotic syndrome associated with Epstein-Barr infection.


Nephropathy due to Amphotericin

description: Kidney damage resulting from amphotericin.


Nephrotic Syndrome - NEIL1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene.


name: congenital nephrotic syndrome, Finnish type

description: Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.


name: Pauci-Immune Glomerulonephritis - ANCA Negative

description: Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA).


Nephrotic Syndrome - COQ6 Associated

description: Nephrotic syndrome attributed to mutation(s) in the COQ6 gene.


oligomeganephronia

description: Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.


Simple renal cyst

description: An isolated cyst of the kidney.


renal artery obstruction

description: Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).


medullary sponge kidney

description: Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.


glomerulonephritis

description: A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.


name: Nephrotic Syndrome-Remission, Partial Remission

description: Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment.


pyelonephritis

description: An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.


description: Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli.


Stage 3 chronic kidney disease

description: A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).


name: Nephrotic Syndrome - Hepatitis C Virus Associated

description: Nephrotic syndrome associated with a hepatitis C infection.


nephrotic syndrome, type 4

description: Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.


name: Focal Segmental Glomerulosclerosis, Not Otherwise Specified

description: Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephrotic Syndrome - WT1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the WT1 gene.


Nephrotic Syndrome - SCARB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene.


Membranous lupus nephritis

description: A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis


name: Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the endovascular lining of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Mesangial proliferative lupus nephritis

description: A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.


Infundibular Stenosis

description: Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow.


Collapsing glomerulopathy

description: Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia.


Membranous Nephropathy - NEP Induced

description: Membranous nephropathy due to neural endopeptidase (NEP) antibodies.


name: Congenital Nephrotic Syndrome - Infection Associated

description: Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process.


acute proliferative glomerulonephritis

description: Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.


subacute glomerulonephritis

description: A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.


name: Type I Cryoglobulinemic Glomerulonephritis

description: Glomerulonephritis caused by cryoglobulins which are composed of monoclonal immunoglobulins IgG, IgA, or IgM. It occurs in patients with lymphoproliferative disorders.


immune-complex glomerulonephritis

description: Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.


Membranous Nephropathy - PLA2R Induced

description: Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies.


name: Focal Segmental Glomerulosclerosis Tip Lesion Variant

description: A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephropathy caused by heavy metals

description: Damage to the kidney and renal tubules resulting from heavy metal exposure.


Nephrotic Syndrome - ITGB4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene.


name: Focal Segmental Glomerulosclerosis Perihilar Variant

description: A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


COVID-19-Associated Acute Kidney Injury

description: Acute kidney injury caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


granulomatosis with polyangiitis

description: A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.


mTOR Inhibitor - Induced Nephropathy

description: Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors.


name: Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells, expansion of the mesangial matrix and deposition of immune complexes causing subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Nephrotic Syndrome - PTPRO Associated

description: Nephrotic syndrome attributed to mutation(s) in the PTPRO gene.


focal embolic glomerulonephritis

description: Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.


name: Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis

description: Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody.


Sickle cell nephropathy

description: Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities.


glomerulosclerosis

description: A hardening of the kidney glomerulus caused by scarring of the blood vessels.


Nephrotic Syndrome - Malaria Associated

description: Nephrotic syndrome associated with malaria.


name: Nephrotic Syndrome with Lesion of Segmental Hyalinosis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the filtering capillaries and the deposition of plasma components between the endothelium and glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Incident Nephrotic Syndrome

description: New onset nephrotic syndrome.


Nephritic syndrome

description: A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria.


(R)-napropamide

The (R)-enantiomer of N,N-diethyl-2-(naphthalen-1-yloxy)propanamide.


name: phagosome-lysosome fusion involved in apoptotic cell clearance

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: The creation of a phagolysosome from a phagosome and a lysosome as a part of apoptotic cell clearance.


phagosome-lysosome fusion

description: The creation of a phagolysosome from a phagosome and a lysosome.


name: protein DEHYDRATION-INDUCED 19 homolog 4 isoform 1 (Arabidopsis thaliana)

description: A protein DEHYDRATION-INDUCED 19 homolog 4 (Arabidopsis thaliana) 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:Q8VXU6-1.


name: DNA ligase 1 isoform 2 (Arabidopsis thaliana)

description: A DNA ligase 1 (Arabidopsis thaliana) 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:Q42572-2.


name: KRE28_YEAST Spindle pole body component KRE28 (sprot)

description: A protein that is a translation product of the KRE28 gene in yeast.


name: D-glycero-D-manno-heptose 7-phosphate biosynthetic process

description: The chemical reactions and pathways resulting in the formation of a D-glycero-D-manno-heptose 7-phosphate.


name: sessile serrated polyposis cancer syndrome


digestive system disorder

description: A disease or disorder that involves the digestive system.


name: squamous cell carcinoma of buccal mucosa

description: A squamous cell carcinoma that involves the buccal mucosa.


mucinous adenocarcinoma of the appendix

description: Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.


name: pancreatic delta cell neuroendocrine tumor

description: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).


colon Kaposi sarcoma

description: A Kaposi sarcoma arising from the colon.


pancreatic cystadenocarcinoma

description: A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.


inflammatory bowel disease 6

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.


pancreatitis

description: Inflammation of the pancreas.


cholangitis

description: An acute or chronic inflammatory process affecting the biliary tract.


name: extrahepatic bile duct adenosquamous carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.


polycystic liver disease 1

description: A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.


name: nodular regenerative hyperplasia of the liver

description: Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.


autoimmune hepatitis type 1

description: Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).


name: membranous obstruction of inferior vena cava


anal canal adenocarcinoma

description: An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.


anus disorder

description: A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.


polyp of gallbladder

description: A polyp that involves the gall bladder.


name: carcinoma of esophagus, salivary gland type


digestive system carcinoma

description: A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.


rectum adenoma

description: An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


porphyria cutanea tarda

description: The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.


hepatic angiomyolipoma

description: An angiomyolipoma arising from the liver.


gallbladder adenosquamous carcinoma

description: A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.


name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

description: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.


rectal neoplasm

description: A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


pyloric gland adenoma

description: A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.


lipoatrophic diabetes

description: A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.


name: hereditary neuroendocrine tumor of small intestine

description: An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.


fibrolamellar hepatocellular carcinoma

description: A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.


cholecystitis

description: An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.


intrahepatic bile duct cancer

description: A cancer that involves the intrahepatic bile duct.


name: small intestinal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


Hirschsprung disease

description: Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.


cecal neoplasm

description: A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


name: classic neuroendocrine tumor of appendix

description: Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.


pancreatic lymphoma, familial

description: An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.


inflammatory bowel disease 19

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.


carcinoma in situ of fundus of stomach

description: A in situ carcinoma that involves the fundus of stomach.


name: diabetes mellitus, noninsulin-dependent, 5

description: Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.


colon dysplasia

description: A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.


intestinal cancer

description: A malignant neoplasm involving the intestine


congenital malabsorptive diarrhea 4

description: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.


duodenal disorder

description: Pathological conditions in the duodenum region of the small intestine (intestine, small).


name: carcinoma of stomach, salivary gland type


ampulla of vater adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla


name: cholestasis, progressive familial intrahepatic, 6


colorectal lipoma

description: A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.


name: digestive system neuroendocrine tumor, grade 1/2

description: A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.


bile duct cystadenoma

description: An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.


ampulla of vater cancer

description: A primary or metastatic malignant neoplasm involving the ampulla of Vater.


duodenal adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the duodenum.


small intestine leiomyosarcoma

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


name: pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia

description: A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.


descending colon cancer

description: A malignant neoplasm involving the descending colon.


gastrointestinal tuberculosis

description: Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.


name: pancreatic acinar cell cystadenocarcinoma

description: A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.


fibrotic liver disease

description: A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.


oropharynx cancer

description: A primary or metastatic malignant neoplasm that affects the oropharynx.


liver lymphoma

description: A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.


liver leiomyosarcoma

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


gastric lymphoma

description: An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


oral cavity carcinoma in situ

description: A in situ carcinoma that involves the oral cavity.


hepatic flexure cancer

description: A malignant neoplasm involving the hepatic flexure of colon.


name: maturity-onset diabetes of the young type 14

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.


inflammatory bowel disease 10

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.


common bile duct neoplasm

description: Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.


colorectal medullary carcinoma

description: A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.