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loading...| Preferred Name | Blackfan-Diamond anemia | |
| Synonyms |
Congenital PRCA Congenital pure red cell aplasia Aase syndrome Congenital hypoplastic anemia, Blackfan-Diamond type Aase-Smith II syndrome |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_124 |
|
| database_cross_reference |
OMIM:614900 UMLS:C1260899 ICD10:D61.0 OMIM:618310 OMIM:618313 OMIM:618312 OMIM:300946 MedDRA:10062989 OMIM:612527 OMIM:612528 OMIM:606164 OMIM:105650 OMIM:612563 OMIM:612561 OMIM:612562 OMIM:615550 OMIM:617911 MeSH:D029503 OMIM:617409 OMIM:617408 OMIM:615909 OMIM:610629 OMIM:606129 OMIM:613309 OMIM:613308 |
|
| has_exact_synonym |
Congenital PRCA Congenital pure red cell aplasia Aase syndrome Congenital hypoplastic anemia, Blackfan-Diamond type Aase-Smith II syndrome |
|
| label |
Blackfan-Diamond anemia |
|
| preferred label |
Blackfan-Diamond anemia |
|
| prefLabel |
Blackfan-Diamond anemia |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_68383 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_124 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_124 | ORDO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_124 | EFO | LOOM | |
| http://www.owl-ontologies.com/unnamed.owl#RID18901 | DERMLEX | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_429 | HRDO | LOOM |