loading...| Preferred Name | Diamond-Blackfan anemia | |
| Synonyms |
BDS aregenerative anemia chronic congenital anaemia congenital erythroid hypoplastic Blackfan Diamond syndrome aregenerative anaemia chronic congenital Red cell aplasia, pure hereditary anaemia Diamond Blackfan type anemia congenital erythroid hypoplastic anemia Diamond Blackfan type Diamond-Blackfan anemia Blackfan-Diamond anaemia Blackfan-Diamond anemia Aase-Smith II syndrome DBA inherited erythroblastopenia Diamond Blackfan Anemia congenital hypoplastic anaemia congenital pure red cell aplasia Blackfan - Diamond syndrome congenital hypoplastic anemia congenital hypoplastic anemia, Blackfan-Diamond type erythrogenesis imperfecta congenital PRCA Aase syndrome chronic constitutional pure red cell anemia chronic constitutional pure red cell anaemia |
|
| Definitions |
A congenital aregenerative and often macrocytic anemia with erythroblastopenia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015253 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015253 |
|
| database_cross_reference |
NANDO:2200614 DOID:1339 MedDRA:10062989 GARD:6274 NCIT:C61236 MEDGEN:266045 UMLS:C1260899 NANDO:1200890 MESH:D029503 SCTID:88854002 NORD:773 OMIMPS:105650 Orphanet:124 |
|
| definition |
A congenital aregenerative and often macrocytic anemia with erythroblastopenia. |
|
| has_exact_synonym |
Diamond-Blackfan anemia Blackfan-Diamond anaemia Blackfan-Diamond anemia Aase-Smith II syndrome DBA inherited erythroblastopenia Diamond Blackfan Anemia congenital hypoplastic anaemia congenital pure red cell aplasia Blackfan - Diamond syndrome congenital hypoplastic anemia congenital hypoplastic anemia, Blackfan-Diamond type erythrogenesis imperfecta congenital PRCA Aase syndrome chronic constitutional pure red cell anemia chronic constitutional pure red cell anaemia |
|
| has_related_synonym |
BDS aregenerative anemia chronic congenital anaemia congenital erythroid hypoplastic Blackfan Diamond syndrome aregenerative anaemia chronic congenital Red cell aplasia, pure hereditary anaemia Diamond Blackfan type anemia congenital erythroid hypoplastic anemia Diamond Blackfan type |
|
| id |
MONDO:0015253 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Diamond-Blackfan anemia |
|
| notation |
MONDO:0015253 |
|
| prefLabel |
Diamond-Blackfan anemia |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/D029503 http://linkedlifedata.com/resource/umls/id/C1260899 http://identifiers.org/medgen/266045 http://purl.obolibrary.org/obo/NCIT_C61236 http://identifiers.org/snomedct/88854002 http://purl.obolibrary.org/obo/DOID_1339 |
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| treeView | ||
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015335 |
|
| subClassOf |