Diamond-blackfan anemia 2

Preferred Label : Diamond-blackfan anemia 2;

Symbol : DBA2;

CISMeF acronym : DBA2;

Type : Phenotype or locus, molecular basis unknown;

Description : Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infancy and is inherited in 10 to 20% of cases. For a general phenotypic description and a discussion of genetic heterogeneity of this disorder, see 105650.;

Prefixed ID : %606129;

Details

Origin ID

606129;

UMLS CUI

C1853666;

Currated CISMeF NLP mapping
- Anemia, Diamond-Blackfan, 2 [MeSH concept]
- Diamond-Blackfan anemia 2 [DO Concept]
- anemia, Diamond-Blackfan, 2 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 2 [DO Concept]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, Diamond-Blackfan, 2 [MeSH concept]
- anemia, Diamond-Blackfan, 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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