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encyclopedia of Rare Disease Annotation for Precision Medicine

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	pure red-cell aplasia

Disease ID	1120
Disease	pure red-cell aplasia
Definition	Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.
Synonym	aplasia cells pure red aplasia pure red cell aplasia, erythrocyte aplasia, pure red cell aplasia, pure red-cell aplasias, erythrocyte aplasias, pure red-cell erythrocyte aplasia erythrocyte aplasias primary red cell aplasia pure red cell anaemia pure red cell anemia pure red cell anemia, nos pure red cell aplasia pure red cell aplasia (disorder) pure red cell aplasia, nos pure red-cell aplasias red cell aplasia red cell aplasia nos red cell aplasia, pure red cell hypoplasia red-cell aplasia, pure red-cell aplasia, pure [disease/finding] red-cell aplasias, pure
Orphanet	ORPHANET:98421
DOID	DOID:1340
UMLS	C0034902
MeSH	D012010
SNOMED-CT	SNOMEDCT_US_2016_09_01:50715003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:47) C0040100 \| thymoma \| 8 C0002871 \| anemia \| 7 C0019158 \| hepatitis \| 5 C0023418 \| leukemia \| 3 C0024141 \| systemic lupus erythematosus \| 3 C0221027 \| good syndrome \| 3 C0026986 \| myelodysplastic syndrome \| 2 C0085273 \| parvovirus b19 infection \| 2 C0409974 \| lupus erythematosus \| 2 C0002878 \| hemolytic anemia \| 2 C0024299 \| lymphoma \| 2 C0026986 \| myelodysplastic syndromes \| 1 C1328840 \| autoimmune lymphoproliferative syndrome \| 1 C0026764 \| myeloma \| 1 C1955861 \| t-cell large granular lymphocyte leukemia \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0085253 \| adult onset still's disease \| 1 C0001175 \| acquired immune deficiency syndrome \| 1 C1522378 \| large granular lymphocytic leukemia \| 1 C0085253 \| adult-onset still's disease \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0042769 \| virus infection \| 1 C0024419 \| waldenstrom's macroglobulinaemia \| 1 C1266094 \| type b1 thymoma \| 1 C0006840 \| candidiasis \| 1 C1955861 \| t-lgl leukemia \| 1 C1522378 \| large granular lymphocytosis \| 1 C0002874 \| aplastic anemia \| 1 C0042721 \| viral hepatitis \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0023448 \| lymphocytic leukemia \| 1 C0034212 \| pyoderma \| 1 C0023434 \| b cell chronic lymphocytic leukemia \| 1 C0019196 \| hepatitis c \| 1 C0009782 \| connective tissue disease \| 1 C0026764 \| multiple myeloma \| 1 C0022661 \| chronic kidney disease \| 1 C0020538 \| hypertension \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0024301 \| follicular lymphoma \| 1 C1961099 \| t-cell acute lymphoblastic leukemia \| 1 C0221027 \| good's syndrome \| 1 C0024419 \| macroglobulinaemia \| 1 C0002871 \| anaemia \| 1 C0007570 \| celiac disease \| 1 C0241910 \| autoimmune hepatitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3105 \| HLA-A \| CIPHER 3123 \| HLA-DRB1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:45) 914 \| CD2 \| 2.895 \| DISEASES 940 \| CD28 \| 2.052 \| DISEASES 959 \| CD40LG \| 4.095 \| DISEASES 921 \| CD5 \| 1.26 \| DISEASES 1043 \| CD52 \| 2.878 \| DISEASES 1363 \| CPE \| 1.013 \| DISEASES 51428 \| DDX41 \| 2.968 \| DISEASES 1874 \| E2F4 \| 1.028 \| DISEASES 1875 \| E2F5 \| 1.693 \| DISEASES 1876 \| E2F6 \| 2.017 \| DISEASES 10938 \| EHD1 \| 1.174 \| DISEASES 100302740 \| FAS-AS1 \| 1.258 \| DISEASES 2214 \| FCGR3A \| 1.682 \| DISEASES 28982 \| FLVCR1 \| 3.872 \| DISEASES 2993 \| GYPA \| 3.061 \| DISEASES 2996 \| GYPE \| 1.303 \| DISEASES 3133 \| HLA-E \| 1.343 \| DISEASES 3240 \| HP \| 2.976 \| DISEASES 3800 \| KIF5C \| 2.634 \| DISEASES 3821 \| KLRC1 \| 2.094 \| DISEASES 3824 \| KLRD1 \| 2 \| DISEASES 55777 \| MBD5 \| 1.622 \| DISEASES 6135 \| RPL11 \| 3.725 \| DISEASES 9045 \| RPL14 \| 2.638 \| DISEASES 6147 \| RPL23A \| 2.787 \| DISEASES 6122 \| RPL3 \| 2.427 \| DISEASES 6165 \| RPL35A \| 3.758 \| DISEASES 6173 \| RPL36A \| 4.051 \| DISEASES 6166 \| RPL36AL \| 4.054 \| DISEASES 6170 \| RPL39 \| 2.746 \| DISEASES 6125 \| RPL5 \| 3.346 \| DISEASES 6129 \| RPL7 \| 2.371 \| DISEASES 6181 \| RPLP2 \| 1.811 \| DISEASES 6209 \| RPS15 \| 2.167 \| DISEASES 6218 \| RPS17 \| 4.037 \| DISEASES 6223 \| RPS19 \| 4.607 \| DISEASES 6227 \| RPS21 \| 2.282 \| DISEASES 6229 \| RPS24 \| 3.363 \| DISEASES 6189 \| RPS3A \| 1.823 \| DISEASES 6191 \| RPS4X \| 2.52 \| DISEASES 54790 \| TET2 \| 3.436 \| DISEASES 7018 \| TF \| 1.706 \| DISEASES 284486 \| THEM5 \| 1.854 \| DISEASES 7311 \| UBA52 \| 1.701 \| DISEASES 26137 \| ZBTB20 \| 2.998 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1120
Disease	pure red-cell aplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:26) HP:0100522 \| Thymoma \| 8 HP:0001903 \| Anemia \| 8 HP:0012115 \| Liver inflammation \| 5 HP:0002725 \| Systemic lupus erythematosus \| 3 HP:0001909 \| Leukemia \| 3 HP:0002863 \| Myelodysplastic syndrome \| 2 HP:0200119 \| Acute liver inflammation \| 2 HP:0002665 \| Lymphoma \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0002027 \| Abdominal pain \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0100827 \| Lymphocytosis \| 1 HP:0002608 \| Celiac disease \| 1 HP:0004313 \| Decreased immunoglobulin level \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0003259 \| Increased serum creatinine \| 1 HP:0000822 \| Hypertension \| 1 HP:0001399 \| Liver failure \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0000999 \| Pyoderma \| 1 HP:0006562 \| Viral hepatitis \| 1

Disease ID	1120
Disease	pure red-cell aplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1420725 \| thymoma C1000483 \| anemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0040100 \| thymoma \| 8 C0002871 \| anemia \| 6 C0085274 \| parvovirus b19 \| 3 C0086776 \| parvovirus \| 2 C1955861 \| t-cell large granular lymphocytic leukemia \| 1 C0023448 \| lymphocytic leukemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1120
Disease	pure red-cell aplasia
Case	(Waiting for update.)

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