Diamond-blackfan anemia 11

Preferred Label : Diamond-blackfan anemia 11;

Symbol : DBA11;

CISMeF acronym : DBA11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein L26 gene (RPL26, 603704.0001);

Prefixed ID : #614900;

Details

Origin ID

614900;

UMLS CUI

C3554042;

Automatic exact mappings (from CISMeF team)
- Blackfan-Diamond anemia [ORDO Disease]
- RPL26 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 11 [NCIt concept]
- Diamond-Blackfan anemia 11 [DO Concept]
DO Cross reference
- Diamond-Blackfan anemia 11 [DO Concept]
Genes related to phenotype
- Ribosomal protein l26 [OMIM gene]
HPO term(s)
- Abnormal digit morphology [HPO term]
- Abnormal eyelid morphology [HPO term]
- Absent thumb [HPO term]
- Anemia [HPO term]
- Anemia of inadequate production [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cleft palate [HPO term]
- Forearm reduction defects [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Neutropenia [HPO term]
- Radioulnar synostosis [HPO term]
- Renal agenesis [HPO term]
- Short stature [HPO term]
- Stenosis of the external auditory canal [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 11 [NCIt concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

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