congenital hypoplastic anemia

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Information
Disease name
congenital hypoplastic anemia
Disease ID
DOID:1342
Description
"An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life." [url:https\://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01362595 Completed Phase 1/Phase 2 Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia June 2013 November 30, 2020
Disase is a (Disease Ontology)
DOID:12449
Cross Reference ID (Disease Ontology)
ICD10CM:D61.0
Cross Reference ID (Disease Ontology)
ICD10CM:D61.01
Cross Reference ID (Disease Ontology)
ICD9CM:284.0
Cross Reference ID (Disease Ontology)
MESH:D029502
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:191236003
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:267523003
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0702159
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0949116
Exact Synonym (Disease Ontology)
congenital aplastic anaemia
Exact Synonym (Disease Ontology)
congenital aplastic anemia
Exact Synonym (Disease Ontology)
congenital hypoplastic anaemia
Disase Synonym (Disease Ontology)
Constitutional aplastic anaemia
HPO alt_id (Human Phenotype Ontology)
HP:0005545
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0004810