Diamond-blackfan anemia 18

Preferred Label : Diamond-blackfan anemia 18;

Symbol : DBA18;

CISMeF acronym : DBA18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein L18 gene (RPL18, 604179.0001);

Laboratory abnormalities : Increased erythroid adenosine deaminase (ADA);

Prefixed ID : #618310;

Details

Origin ID

618310;

UMLS CUI

C5193020;

Currated CISMeF NLP mapping
- Diamond-Blackfan anemia 18 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 18 [DO Concept]
Genes related to phenotype
- Ribosomal protein l18 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Erythroid hypoplasia [HPO term]
- Granulocytic hypoplasia [HPO term]
- Neutropenia [HPO term]
- Steroid-responsive anemia [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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