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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Eosinophilia
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Accession:DOID:9001371 term browser browse the term
Definition:Abnormal increase of EOSINOPHILS in the blood, tissues or organs.
Synonyms:exact_synonym: Eosinophilias;   Tropical Eosinophilia;   Tropical Eosinophilias
 primary_id: MESH:D004802


show annotations for term's descendants           Sort by:
Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) RGD PMID:24717943 RGD:8657092 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:10385260 RGD:4891039 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 severity ISO associated with Lymphoma, T-Cell RGD PMID:18395252 RGD:11354898 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO associated with Sinusitis
associated with Pleural Effusion		 RGD PMID:19296494 PMID:15947325 RGD:4891487, RGD:5130928 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO associated with Asthma RGD PMID:17983872 RGD:4145642 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO RGD PMID:24078688 RGD:40903041 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Cyba cytochrome b-245 alpha chain IAGP DNA:deletion:splice junction: RGD PMID:19406829 RGD:11040542 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP RGD PMID:19406829 RGD:11040542
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO DNA:gene fusion RGD PMID:23114151 RGD:11075088 NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Il5 interleukin 5 treatment
severity		 IEP
ISO		 CTD Direct Evidence: marker/mechanism
associated with Toxocariasis
associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)
associated with Lymphoma, T-Cell		 CTD
RGD		 PMID:1988543 PMID:11006010 PMID:11884473 PMID:1699772 PMID:1988543 More... RGD:625643, RGD:11354933, RGD:11354921, RGD:11354913, RGD:11354898 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544 		JBrowse link
G Kng2 kininogen 2 IDA RGD PMID:1937926 RGD:11059896 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
DNA:gene fusion		 RGD PMID:15284118 PMID:23114151 RGD:1580848, RGD:11075088 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Autoinflammation, Immune Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:11024291 PMID:11814684 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition OMIM
ClinVar		 PMID:20167706 PMID:24728327 PMID:25352124 PMID:25741868 PMID:28111307 More... NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
Carrington Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:alveolar system (human) RGD PMID:11488333 RGD:11528564 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15956791 RGD:5135443 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15956791 RGD:5135443 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
eosinophilia-myalgia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO RGD PMID:22331014 RGD:6771318 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Ankrd27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr 1:88,251,216...88,303,615
Ensembl chr 1:88,251,226...88,303,615 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613 PMID:24704289 RGD:11081156, RGD:11081157 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:24486052 RGD:11073602 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
eosinophilic gastroenteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO mRNA:increased expression:gastric antrum (human) RGD PMID:25234644 RGD:11081160 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:intestine, eosinophil RGD PMID:8608886 RGD:11354940 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
hypereosinophilic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO RGD PMID:15026880 RGD:1580361 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778211 PMID:28347583 PMID:31036733 NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:12660384 PMID:16778211 PMID:17576681 PMID:20071345 More... RGD:9693733 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8896393 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM
ClinVar		 PMID:9536098 PMID:16019263 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia ClinVar PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO
ISS		 ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
OMIM:603554
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More... RGD:1599403 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
Pdgfra-Associated Chronic Eosinophilic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
pulmonary eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam8 ADAM metallopeptidase domain 8 ISO protein:increased expression:serum RGD PMID:19625177 RGD:5128874 NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801 		JBrowse link
G C3 complement C3 ISO RGD PMID:23549917 RGD:7401272 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Asthma RGD PMID:12707363 RGD:4891412 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:12750406 RGD:4145437 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11956056 RGD:4145602 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:20732990 RGD:4145617 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd44 CD44 molecule ISO RGD PMID:12750406 RGD:4145437 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:24218148 RGD:11041569 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:lung RGD PMID:20796249 RGD:4140455 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO associated with Respiratory Syncytial Virus Infections RGD PMID:12574374 RGD:8549597 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:Bronchoalveolar lavage: RGD PMID:24706315 RGD:11528542 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il5 interleukin 5 treatment ISO associated with respiratory syncytial virus infection
protein:increased expression:respiratory system fluid/secretion
associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion		 RGD PMID:9712797 PMID:18519743 PMID:12765419 PMID:10471622 PMID:17597386 RGD:4890961, RGD:4890941, RGD:4890956, RGD:11354935, RGD:11354949 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:increased expression:lung (mouse) RGD PMID:7743671 RGD:8547590 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29067999 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:18829681 RGD:4891506 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO RGD PMID:16714207 RGD:4892061 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO protein:decreased expression:serum RGD PMID:15467329 RGD:5144148 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:22802632 RGD:11059529 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      hematopoietic system disease 3822
        leukocyte disease 1347
          Eosinophilia 59
            Autoinflammation, Immune Dysregulation, and Eosinophilia 2
            Eosinophilic Fasciitis 0
            Eosinophilic Granuloma 0
            Eosinophilic Pustular Folliculitis 1
            Eosinophilic Synovitis 0
            Familial Eosinophilia 0
            Kimura disease 0
            Lethal Congenital Neutropenia with Eosinophilia 0
            Omenn syndrome 4
            Pseudopyogenic Granuloma 0
            Wells Syndrome 0
            eosinophilic esophagitis 10
            eosinophilic gastritis 0
            eosinophilic gastroenteritis 2
            hypereosinophilic syndrome + 28
            immunodeficiency 71 1
            myeloproliferative disorder with eosinophilia 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3822
          leukocyte disease 1347
            Eosinophilia 59
              Autoinflammation, Immune Dysregulation, and Eosinophilia 2
              Eosinophilic Fasciitis 0
              Eosinophilic Granuloma 0
              Eosinophilic Pustular Folliculitis 1
              Eosinophilic Synovitis 0
              Familial Eosinophilia 0
              Kimura disease 0
              Lethal Congenital Neutropenia with Eosinophilia 0
              Omenn syndrome 4
              Pseudopyogenic Granuloma 0
              Wells Syndrome 0
              eosinophilic esophagitis 10
              eosinophilic gastritis 0
              eosinophilic gastroenteritis 2
              hypereosinophilic syndrome + 28
              immunodeficiency 71 1
              myeloproliferative disorder with eosinophilia 1
paths to the root