Diamond-blackfan anemia 16

Preferred Label : Diamond-blackfan anemia 16;

Symbol : DBA16;

CISMeF acronym : DBA16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein L27 gene (RPL27, 607526.0001);

Prefixed ID : #617408;

Details

Origin ID

617408;

UMLS CUI

C4479424;

Currated CISMeF NLP mapping
- Diamond-Blackfan anemia 16 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 16 [DO Concept]
Genes related to phenotype
- Ribosomal protein l27 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Pulmonic stenosis [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients