Anemia, congenital dyserythropoietic, type II

Preferred Label : Anemia, congenital dyserythropoietic, type II;

Symbol : CDAN2;

CISMeF acronym : CDAN2; HEMPAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cda, type II; Hereditary erythroblastic multinuclearity with positive acidified-serum test; HEMPAS; Dyserythropoietic anemia, congenital, type II; Dyserythropoietic anemia, hempas type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SEC23 homolog B, coat complex II component gene (SEC23B, 610512.0001);

Laboratory abnormalities : Increased serum unconjugated bilirubin;

Prefixed ID : #224100;

Details

Origin ID

224100;

UMLS CUI

C1306589;

Automatic exact mappings (from CISMeF team)
- CDA Gene [NCIt concept]
- Congenital dyserythropoietic anaemia type II [ICD-11 More detail]
- Hexamethylphosphoramide [LOINC component]
- SEC23 homolog B, COPII coat complex component [ORDO Gene]
- SEC23B wt Allele [NCIt concept]
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- hempa [MeSH concept]
- hempa [MeSH Descriptor]
- symbol withdrawn CDAN2 [HGNC gene]
Currated CISMeF NLP mapping
- Congenital Dyserythropoietic Anemia Type II [NCIt concept]
- Congenital dyserythropoietic anemia type II [ORDO Disease]
- Congenital dyserythropoietic anemia, type II (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type II [MeSH concept]
- congenital dyserythropoietic anemia type II [DO Concept]
- congenital dyserythropoietic anemia, type ii [SNOMED Notion]
DO Cross reference
- congenital dyserythropoietic anemia type II [DO Concept]
False automatic mappings
- Cladribine [NCIt concept]
Genes related to phenotype
- Sec23 homolog b, coat complex II component [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholelithiasis [HPO term]
- Endopolyploidy on chromosome studies of bone marrow [HPO term]
- Jaundice [HPO term]
- Reduced level of N-acetylglucosaminyltransferase II [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Dyserythropoietic Anemia Type II [NCIt concept]
- Congenital dyserythropoietic anemia type II [ORDO Disease]
- Congenital dyserythropoietic anemia, type II (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type II [MeSH concept]
- congenital dyserythropoietic anemia type II [DO Concept]
- congenital dyserythropoietic anemia, type ii [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients