Diamond-blackfan anemia 10

Preferred Label : Diamond-blackfan anemia 10;

Symbol : DBA10;

CISMeF acronym : DBA10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein S26 gene (RPS26, 603701.0001);

Prefixed ID : #613309;

Details

Origin ID

613309;

UMLS CUI

C2750080;

Automatic exact mappings (from CISMeF team)
- Blackfan-Diamond anemia [ORDO Disease]
- RPS26 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 10 [NCIt concept]
- Diamond-Blackfan anemia 10 [DO Concept]
- Diamond-Blackfan anemia 10 [MeSH concept]
- Diamond-Blackfan anemia 10 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 10 [DO Concept]
Genes related to phenotype
- Ribosomal protein s26 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad neck [HPO term]
- Childhood onset [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Ectopic kidney [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Infantile onset [HPO term]
- Low-set ears [HPO term]
- Macrocytic anemia [HPO term]
- Malar flattening [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Morgagni diaphragmatic hernia [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Renal duplication [HPO term]
- Respiratory distress [HPO term]
- Reticulocytopenia [HPO term]
- Short stature [HPO term]
- Steroid-responsive anemia [HPO term]
- Supernumerary ribs [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 10 [NCIt concept]
- Diamond-Blackfan anemia 10 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 10 [MeSH concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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