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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   idiopathic aplastic anemia
  

Disease ID 1662
Disease idiopathic aplastic anemia
Definition
Aplastic anemia without a known cause.
Synonym
aplastic anemia, idiopathic
idiopathic aplastic anaemia
idiopathic aplastic anemia (disorder)
idiopathic aplastic anemia,nos
Orphanet
ICD10
UMLS
C0348890
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0030312  |  bone marrow failure  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
3458  |  IFNG  |  ORPHANET;UNIPROT
7015  |  TERT  |  ORPHANET;UNIPROT
51119  |  SBDS  |  ORPHANET;UNIPROT
7012  |  TERC  |  ORPHANET
5551  |  PRF1  |  ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:5)
PRF1  |  10q22.1
SBDS  |  7q11.21
IFNG  |  12q15
TERT  |  5p15.33
TERC  |  3q26.2
Disease ID 1662
Disease idiopathic aplastic anemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0002835  |  Aspiration  |  1
HP:0005528  |  Bone marrow hypoplasia  |  1
Disease ID 1662
Disease idiopathic aplastic anemia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0156290  |  prostatic abscess
C0033845  |  pseudotumor cerebri
Text Mined Symptom(Waiting for update.)
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 1662
Disease idiopathic aplastic anemia
Case(Waiting for update.)