Anemia, congenital dyserythropoietic, type ib

Preferred Label : Anemia, congenital dyserythropoietic, type ib;

Symbol : CDAN1B;

CISMeF acronym : CDAN1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cda, type ib;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 15 open reading frame 41 gene (C15ORF41, 615626.0001);

Laboratory abnormalities : Increased serum bilirubin; Increased fetal hemoglobin; Decreased hemoglobin;

Prefixed ID : #615631;

Détails

Origin ID

615631;

UMLS CUI

C3810185;

Automatic exact mappings (from CISMeF team)
- congenital dyserythropoietic anemia type Ib [DO Concept]
DO Cross reference
- congenital dyserythropoietic anemia type Ib [DO Concept]
Genes related to phenotype
- Cdan1-interacting nuclease 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Anemia of inadequate production [HPO term]
- Anisocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Erythroid hyperplasia [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Jaundice [HPO term]
- Pallor [HPO term]
- Poikilocytosis [HPO term]
- Reticulocytosis [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Splenomegaly [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital dyserythropoietic anemia type Ia [DO Concept]
Validated automatic mappings to NTBT
- Congenital dyserythropoietic anemia type I [ORDO Disease]

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