Diamond-blackfan anemia 5

Preferred Label : Diamond-blackfan anemia 5;

Symbol : DBA5;

CISMeF acronym : DBA5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ribosomal protein L35A (RPL35A, 180468.0001);

Laboratory abnormalities : Elevated erythrocyte adenosine deaminase (eADA);

Prefixed ID : #612528;

Details

Origin ID

612528;

UMLS CUI

C2675859;

Automatic exact mappings (from CISMeF team)
- Blackfan-Diamond anemia [ORDO Disease]
- RPL35A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 5 [NCIt concept]
- Diamond-Blackfan anemia 5 [DO Concept]
- Diamond-Blackfan anemia 5 [MeSH concept]
- Diamond-Blackfan anemia 5 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 5 [DO Concept]
Genes related to phenotype
- Ribosomal protein l35a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Erythroid hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Infantile onset [HPO term]
- Leukopenia [HPO term]
- Low-set ears [HPO term]
- Macrocytic anemia [HPO term]
- Reticulocytopenia [HPO term]
- Short stature [HPO term]
- Ventricular septal defect [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 5 [NCIt concept]
- Diamond-Blackfan anemia 5 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 5 [MeSH concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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