Cell Culture Ontology - Diamond-Blackfan anemia - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

Id	http://purl.obolibrary.org/obo/MONDO_0015253 http://purl.obolibrary.org/obo/MONDO_0015253
Preferred Name	Diamond-Blackfan anemia
Definitions	A congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Synonyms	anaemia congenital erythroid hypoplastic Blackfan Diamond syndrome anemia Diamond Blackfan type anaemia Diamond Blackfan type Red cell aplasia, pure hereditary aregenerative anaemia chronic congenital anemia congenital erythroid hypoplastic aregenerative anemia chronic congenital BDS chronic constitutional pure red cell anemia chronic constitutional pure red cell anaemia congenital hypoplastic anaemia congenital hypoplastic anemia, Blackfan-Diamond type Blackfan-Diamond anemia Aase syndrome Diamond Blackfan Anemia Aase-Smith II syndrome congenital pure red cell aplasia erythrogenesis imperfecta Blackfan - Diamond syndrome Blackfan-Diamond anaemia congenital hypoplastic anemia inherited erythroblastopenia congenital PRCA Diamond-Blackfan anemia DBA See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A congenital aregenerative and often macrocytic anemia with erythroblastopenia.
preferred label	Diamond-Blackfan anemia
label	Diamond-Blackfan anemia
prefLabel	Diamond-Blackfan anemia
database_cross_reference	NANDO:1200890 UMLS:C1260899 MedDRA:10062989 NCIT:C61236 MEDGEN:266045 MESH:D029503 SCTID:88854002 Orphanet:124 NANDO:2200614 OMIMPS:105650 DOID:1339 GARD:6274 NORD:773 See more See less
notation	MONDO:0015253
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder See more See less
has_related_synonym	anaemia congenital erythroid hypoplastic Blackfan Diamond syndrome anemia Diamond Blackfan type anaemia Diamond Blackfan type Red cell aplasia, pure hereditary aregenerative anaemia chronic congenital anemia congenital erythroid hypoplastic aregenerative anemia chronic congenital BDS See more See less
id	MONDO:0015253
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 https://omim.org/phenotypicSeries/PS105650 http://purl.obolibrary.org/obo/Orphanet_124 See more See less
subClassOf	http://purl.obolibrary.org/obo/MONDO_0001705 http://purl.obolibrary.org/obo/MONDO_0001713
skos_closeMatch	http://identifiers.org/meddra/10062989
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	chronic constitutional pure red cell anemia chronic constitutional pure red cell anaemia congenital hypoplastic anaemia congenital hypoplastic anemia, Blackfan-Diamond type Blackfan-Diamond anemia Aase syndrome Diamond Blackfan Anemia Aase-Smith II syndrome congenital pure red cell aplasia erythrogenesis imperfecta Blackfan - Diamond syndrome Blackfan-Diamond anaemia congenital hypoplastic anemia inherited erythroblastopenia congenital PRCA Diamond-Blackfan anemia DBA See more See less
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0015253
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0015335 http://purl.obolibrary.org/obo/MONDO_0015945 http://purl.obolibrary.org/obo/MONDO_0019236

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