Diamond-blackfan anemia 17

Preferred Label : Diamond-blackfan anemia 17;

Symbol : DBA17;

CISMeF acronym : DBA17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein S27 gene (RPS27, 603702.0001);

Prefixed ID : #617409;

Details

Origin ID

617409;

UMLS CUI

C4479428;

Currated CISMeF NLP mapping
- Diamond-Blackfan anemia 17 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 17 [DO Concept]
Genes related to phenotype
- Ribosomal protein s27 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hyperpigmentation of the skin [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
See also inter- (CISMeF)
- RPS27 wt Allele [NCIt concept]
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) :

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