eosinophilic esophagitis |
Disease ID | 175 |
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Disease | eosinophilic esophagitis |
Definition | Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens. |
Synonym | chronic esophagitides, eosinophilic chronic esophagitis, eosinophilic eoe1 eosinophilic chronic esophagitides eosinophilic chronic esophagitis eosinophilic esophagitides eosinophilic esophagitis (disorder) eosinophilic esophagitis [disease/finding] eosinophilic oesophagitis esophagitides, eosinophilic esophagitides, eosinophilic chronic esophagitis, eosinophilic esophagitis, eosinophilic chronic esophagitis, eosinophilic, 1 |
Orphanet | |
OMIM | |
DOID | |
ICD10 | |
UMLS | C0341106 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0017168 | oesophageal reflux | 5 C0017168 | gastroesophageal reflux | 5 C0017168 | esophageal reflux | 5 C0017168 | esophageal reflux disease | 4 C0007570 | celiac disease | 4 C0017168 | gastroesophageal reflux disease | 4 C0014850 | esophageal atresia | 3 C0034065 | pulmonary embolism | 1 C0004096 | asthma | 1 C0009782 | connective tissue disorder | 1 C0007789 | cerebral palsy | 1 C0016470 | food allergy | 1 C0004763 | barrett's esophagus | 1 C0016470 | food hypersensitivity | 1 C0009782 | connective tissue disorders | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:16) 286046 | XKR6 | GWASCAT 1630 | DCC | GWASCAT 85480 | TSLP | CTD_human;GWASCAT 6778 | STAT6 | GWASCAT 10344 | CCL26 | CTD_human 440854 | CAPN14 | CTD_human;GWASCAT 57619 | SHROOM3 | GWASCAT 9127 | P2RX6 | GWASCAT 726 | CAPN5 | GWASCAT 11077 | HSF2BP | GWASCAT 60494 | CCDC81 | GWASCAT 23076 | RRP1B | GWASCAT 7077 | TIMP2 | GWASCAT 57576 | KIF17 | GWASCAT 126917 | IFFO2 | GWASCAT 84079 | ANKRD27 | GWASCAT |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:47) 2683 | B4GALT1 | 1.298 | DISEASES 100885775 | BANCR | 2.129 | DISEASES 440854 | CAPN14 | 5.619 | DISEASES 1232 | CCR3 | 3.197 | DISEASES 1237 | CCR8 | 1.183 | DISEASES 912 | CD1D | 2.071 | DISEASES 60437 | CDH26 | 3.077 | DISEASES 222256 | CDHR3 | 2.404 | DISEASES 27159 | CHIA | 1.211 | DISEASES 10321 | CRISP3 | 1.88 | DISEASES 64109 | CRLF2 | 2.437 | DISEASES 414325 | DEFB103A | 1.85 | DISEASES 55894 | DEFB103B | 1.85 | DISEASES 100289462 | DEFB4B | 1.236 | DISEASES 28955 | DEXI | 2.478 | DISEASES 8909 | ENDOU | 2.534 | DISEASES 2254 | FGF9 | 2.072 | DISEASES 2312 | FLG | 3.558 | DISEASES 50943 | FOXP3 | 1.465 | DISEASES 55876 | GSDMB | 1.45 | DISEASES 3055 | HCK | 1.088 | DISEASES 3384 | ICAM2 | 1.093 | DISEASES 3601 | IL15RA | 2.097 | DISEASES 90865 | IL33 | 2.731 | DISEASES 3652 | IPP | 1.101 | DISEASES 102723508 | KANTR | 2.247 | DISEASES 3851 | KRT4 | 1.234 | DISEASES 79782 | LRRC31 | 3.471 | DISEASES 7786 | MAP3K12 | 1.501 | DISEASES 4354 | MPP1 | 2.291 | DISEASES 26496 | OR10A3 | 1.757 | DISEASES 54625 | PARP14 | 3.029 | DISEASES 5334 | PLCL1 | 2.135 | DISEASES 10631 | POSTN | 3.578 | DISEASES 11251 | PTGDR2 | 2.472 | DISEASES 5831 | PYCR1 | 1.208 | DISEASES 27181 | SIGLEC8 | 3.019 | DISEASES 6949 | TCOF1 | 1.624 | DISEASES 9414 | TJP2 | 1.17 | DISEASES 387521 | TMEM189 | 1.109 | DISEASES 642987 | TMEM232 | 1.353 | DISEASES 7293 | TNFRSF4 | 1.417 | DISEASES 85480 | TSLP | 5.014 | DISEASES 134430 | WDR36 | 3.002 | DISEASES 65986 | ZBTB10 | 2.09 | DISEASES 84619 | ZGPAT | 1.305 | DISEASES 10771 | ZMYND11 | 2.232 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 175 |
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Disease | eosinophilic esophagitis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0011168 | dysphagia | 7 C0014866 | esophageal stenosis | 1 C0014860 | esophageal perforation | 1 C0426576 | gastrointestinal symptoms | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:20) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs11206830 | 25017104 | 8613 | PPAP2B | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | PPAP2B | 1 | 56494451 | C | T |
rs118086209 | 25017104 | 60494 | CCDC81 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | CCDC81 | 11 | 86393453 | T | G |
rs149864795 | 25407941 | 440854 | CAPN14 | umls:C0341106 | GWASCAT | Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. | 0.24 | 2014 | CAPN14 | 2 | 31179541 | G | A |
rs167769 | 25407941 | 6778 | STAT6 | umls:C0341106 | GWASCAT | Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. | 0.121085767 | 2014 | STAT6 | 12 | 57109992 | C | T |
rs17004598 | 25017104 | 23076 | RRP1B | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | HSF2BP;RRP1B | 21 | 43658675 | T | G |
rs17004598 | 25017104 | 11077 | HSF2BP | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | HSF2BP;RRP1B | 21 | 43658675 | T | G |
rs1986734 | 20208534 | 57619 | SHROOM3 | umls:C0341106 | GWASCAT | Common variants at 5q22 associate with pediatric eosinophilic esophagitis. | 0.12 | 2010 | SHROOM3 | 4 | 76499631 | C | T |
rs2075277 | 25017104 | 9127 | P2RX6 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | P2RX6 | 22 | 21028193 | T | C |
rs2296225 | 25017104 | 57576 | KIF17 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | KIF17 | 1 | 20704549 | T | C |
rs28530674 | 25017104 | 126917 | IFFO2 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | IFFO2 | 1 | 18907640 | A | G |
rs2898261 | 25017104 | 286046 | XKR6 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | XKR6 | 8 | 11101029 | G | A,T |
rs3744790 | 25017104 | 7077 | TIMP2 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | TIMP2;KIAA1731NL | 17 | 78897053 | C | T |
rs3806932 | 20208534 | 85480 | TSLP | umls:C0341106 | GWASCAT | These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region. | 0.241628651 | 2010 | TSLP | 5 | 111069977 | A | G |
rs3806932 | 20208534 | 134430 | WDR36 | umls:C0341106 | BeFree | We report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)). | 0.000542884 | 2010 | TSLP | 5 | 111069977 | A | G |
rs3806933 | 25017104 | 85480 | TSLP | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.241628651 | 2014 | TSLP | 5 | 111071044 | C | T |
rs3815700 | 25407941 | 84079 | ANKRD27 | umls:C0341106 | GWASCAT | Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. | 0.12 | 2014 | ANKRD27 | 19 | 32602346 | T | C |
rs61894547 | 25407941 | 56946 | C11orf30 | umls:C0341106 | GWASCAT | Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. | 0.120271442 | 2014 | C11orf30 | 11 | 76537586 | C | T |
rs77301713 | 25017104 | 726 | CAPN5 | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | CAPN5 | 11 | 77121400 | G | A |
rs77569859 | 25017104 | 440854 | CAPN14 | umls:C0341106 | GWASCAT | We propose a model to explain the tissue-specific nature of EoE that involves the interplay of allergic sensitization with an EoE-specific, IL-13-inducible esophageal response involving CAPN14. | 0.24 | 2014 | CAPN14 | 2 | 31188421 | T | C |
rs9956738 | 25017104 | 1630 | DCC | umls:C0341106 | GWASCAT | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. | 0.12 | 2014 | DCC | 18 | 52414603 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:14) | |||||||||||||||||||||||||||||
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CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
3 | 176030096 | rs6799767 | G | T | rs6799767 | 20208534 | 4.00E-07 | NA | 1.49 | [1.18-1.85] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
4 | 77418681 | rs13106227 | G | A | rs13106227 | 20208534 | 4.00E-06 | NA | 1.52 | [1.20-1.92] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
4 | 77420784 | rs1986734 | C | T | rs1986734 | 20208534 | 1.00E-06 | NA | 1.54 | [1.22-1.89] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
5 | 81939318 | rs1032757 | G | A | rs1032757 | 20208534 | 2.00E-06 | NA | 1.96 | [1.40-2.74] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs1032757-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
5 | 110405675 | rs3806932 | A | G | rs3806932 | 20208534 | 3.00E-09 | NA | 1.85 | NA | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
6 | 58308955 | rs9500256 | G | A | rs9500256 | 20208534 | 5.00E-06 | NA | 2.04 | [1.52-2.70] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
8 | 99088581 | rs13278732 | C | T | rs13278732 | 20208534 | 6.00E-06 | NA | 1.31 | [1.04-1.65] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs13278732-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
8 | 121694650 | rs11989782 | C | A | rs11989782 | 20208534 | 7.00E-06 | NA | 1.53 | [1.21-1.93] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs11989782-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
10 | 85422854 | rs2224865 | G | T | rs2224865 | 20208534 | 9.00E-06 | NA | 1.44 | [1.15-1.79] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs2224865-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
11 | 95422867 | rs1939875 | A | G | rs1939875 | 20208534 | 3.00E-06 | NA | 1.54 | [1.22-1.93] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs1939875-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
12 | 57503775 | rs167769 | C | T | rs167769 | 20208534 | 2.00E-06 | NA | 1.36 | [1.10-1.69] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs167769-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
16 | 84578241 | rs371915 | A | G | rs371915 | 20208534 | 2.00E-08 | NA | 1.9 | [1.44-2.50] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
17 | 68291133 | rs6501384 | C | T | rs6501384 | 20208534 | 6.00E-06 | NA | 1.41 | [1.13-1.76] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs6501384-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
18 | 28902322 | rs7236477 | A | G | rs7236477 | 20208534 | 7.00E-06 | NA | 2.22 | [1.39-3.55] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs7236477-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:7) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0005240 | Esophageal obstruction | MP:0011509 | dilated glomerular capillary | stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole |
HP:0002043 | Esophageal stricture | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
HP:0005203 | Spontaneous esophageal perforation | MP:0011160 | dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
Disease ID | 175 |
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Disease | eosinophilic esophagitis |
Case | (Waiting for update.) |