Diamond-blackfan anemia 3

Preferred Label : Diamond-blackfan anemia 3;

Symbol : DBA3;

CISMeF acronym : DBA3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ribosomal protein S24 (RPS24, 602412.0001);

Laboratory abnormalities : Elevated fetal hemoglobin (HbF); Elevated mean corpuscular volume; Elevated erythrocyte adenosine deaminase (eADA);

Prefixed ID : #610629;

Détails

Origin ID

610629;

UMLS CUI

C1857719;

Automatic exact mappings (from CISMeF team)
- Blackfan-Diamond anemia [ORDO Disease]
- RPS24 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Anemia, Diamond-Blackfan, 3 [MeSH concept]
- Diamond-Blackfan Anemia 3 [NCIt concept]
- Diamond-blackfan anemia 3 [DO Concept]
- anemia, Diamond-Blackfan, 3 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-blackfan anemia 3 [DO Concept]
Genes related to phenotype
- Ribosomal protein s24 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated red cell adenosine deaminase level [HPO term]
- Increased mean corpuscular volume [HPO term]
- Macrocytic anemia [HPO term]
- Persistence of hemoglobin F [HPO term]
- Reticulocytopenia [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, Diamond-Blackfan, 3 [MeSH concept]
- Diamond-Blackfan Anemia 3 [NCIt concept]
- anemia, Diamond-Blackfan, 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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