Diamond-blackfan anemia 4

Preferred Label : Diamond-blackfan anemia 4;

Symbol : DBA4;

CISMeF acronym : DBA4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ribosomal protein S17 (RPS17, 180472.0001);

Laboratory abnormalities : Elevated erythrocyte adenosine deaminase (eADA);

Prefixed ID : #612527;

Details

Origin ID

612527;

UMLS CUI

C2675860;

Automatic exact mappings (from CISMeF team)
- Blackfan-Diamond anemia [ORDO Disease]
- RPS17 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 4 [NCIt concept]
- Diamond-Blackfan anemia 4 [DO Concept]
- Diamond-Blackfan anemia 4 [MeSH concept]
- Diamond-Blackfan anemia 4 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 4 [DO Concept]
Genes related to phenotype
- Ribosomal protein s17 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Erythroid hypoplasia [HPO term]
- Growth delay [HPO term]
- Macrocytic anemia [HPO term]
- Neutropenia [HPO term]
- Reticulocytopenia [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diamond-Blackfan Anemia 4 [NCIt concept]
- Diamond-Blackfan anemia 4 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 4 [MeSH concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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