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Preferred Name

osteopetrosis
Synonyms

osteosclerosis fragilis

marble bone

Albers Schoenberg disease
Definitions

excessive formation of dense trabecular bone leading to pathological fractures, osteitis, splenomegaly with infarct, anemia, and extramedullary hemopoiesis.
ID

http://purl.bioontology.org/ontology/CSP/1849-7232
altLabel

osteosclerosis fragilis

marble bone

Albers Schoenberg disease
cui

C0029454
definition

excessive formation of dense trabecular bone leading to pathological fractures, osteitis, splenomegaly with infarct, anemia, and extramedullary hemopoiesis.
DID

1849-7232
Inverse of RB

http://purl.bioontology.org/ontology/CSP/2715-1497

http://purl.bioontology.org/ontology/CSP/2715-2940
notation

1849-7232
prefLabel

osteopetrosis
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/2715-1497

http://purl.bioontology.org/ontology/CSP/2715-2940
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http://purl.bioontology.org/ontology/MDRGER/10001556 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10026821 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10031280 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10026821 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/367489004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/PG52. RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.2 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1926006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/756.52 ICD9CM CUI
http://purl.bioontology.org/ontology/SCTSPA/1926006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10031280 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10031280 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D010022 MESH CUI
http://purl.bioontology.org/ontology/RCD/PG521 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10001556 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU056843 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10026821 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002258 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D1-61860 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/Q78.2 ICD10 CUI
http://purl.bioontology.org/ontology/MSHFRE/D010022 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/367489004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00B01 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10001556 MDRFRE CUI
http://purl.obolibrary.org/obo/DOID_13533 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 EFO LOOM
http://purl.obolibrary.org/obo/HP_0011002 EFO LOOM
http://purl.obolibrary.org/obo/DOID_13533 DOID LOOM
http://purl.obolibrary.org/obo/HP_0011002 OBA LOOM
http://purl.obolibrary.org/obo/MP_0000067 MP LOOM
http://purl.obolibrary.org/obo/HP_0011002 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteopetrosis CSEO LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LD24.10 VODANADISEASES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9093 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_13533 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13533 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13533 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13533 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13533 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13533 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PG52. RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0029454 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.2 ICD10CM LOOM
urn:agi-folder:osteopetrosis BPT LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000256 CSEO LOOM
http://radlex.org/RID/RID5392 RADLEX LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1926006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0011028 OMIT LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.52 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085629 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.702.678 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 DOVES LOOM
http://purl.obolibrary.org/obo/MP_0000067 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0000067 CHIRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10031280 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26840 NCIT LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1404 IFAR LOOM
http://www.gamuts.net/entity#osteopetrosis GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010022 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D010022 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PG52.00 RCTV2 LOOM
http://purl.jp/bio/4/id/200906070677476987 IOBC LOOM
http://purl.obolibrary.org/obo/HP_0011002 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0011002 MAXO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU056843 OMIM LOOM
http://purl.obolibrary.org/obo/NCIT_C26840 BERO LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.2 ICD10 LOOM
http://purl.obolibrary.org/obo/MPATH_592 MPATH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3700 HRDO LOOM