Diamond-blackfan anemia 13

Preferred Label : Diamond-blackfan anemia 13;

Symbol : DBA13;

CISMeF acronym : DBA13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein S29 gene (RPS29, 603633.0001);

Neoplasia : Possibly increased risk of cancer;

Laboratory abnormalities : Elevated erythrocyte adenosine deaminase;

Prefixed ID : #615909;

Details

Origin ID

615909;

UMLS CUI

C4014641;

Currated CISMeF NLP mapping
- Diamond-Blackfan anemia 13 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 13 [DO Concept]
Genes related to phenotype
- Ribosomal protein s29 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Elevated red cell adenosine deaminase level [HPO term]
- Incomplete penetrance [HPO term]
- Normocytic anemia [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Abnormal facial shape [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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