Diamond-blackfan anemia 20

Preferred Label : Diamond-blackfan anemia 20;

Symbol : DBA20;

CISMeF acronym : DBA20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein S15a gene (RPS15A, 603674.0001);

Prefixed ID : #618313;

Détails

Origin ID

618313;

UMLS CUI

C5193022;

Currated CISMeF NLP mapping
- Diamond-Blackfan anemia 20 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 20 [DO Concept]
Genes related to phenotype
- Ribosomal protein s15a [OMIM gene]
HPO term(s)
- Acetabular dysplasia [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Erythroid hypoplasia [HPO term]
- Total anomalous pulmonary venous return [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]

Position du mot-clé dans l'(les) arborescence(s) :

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