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osteopetrosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0017198

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. [ Orphanet:2781 ]

Synonyms: osteopetrosis (disease) osteopetrosis marble bones marble bone marble bone disease Albers-Schonberg disease

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2201013 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:2781 (MONDO:equivalentTo)
  • UMLS:C0029454 (MONDO:equivalentTo)
  • MESH:D010022 (https://orcid.org/0000-0003-1967-3726)
  • NCIT:C26840 (MONDO:equivalentTo)
  • MEDGEN:18223 (MONDO:equivalentTo)
  • NANDO:1200998 (https://orcid.org/0000-0003-0011-764X)
  • DOID:13533 (MONDO:equivalentTo)
  • NORD:1538 (MONDO:NORD)
  • HP:0011002 (MONDO:otherHierarchy)
  • SCTID:1926006 (MONDO:equivalentTo)
  • MedDRA:10031280 (Orphanet:2781/e)
  • GARD:4155 (MONDO:GARD)
  • ICD9:756.52 (MONDO:i2s)
  • icd11.foundation:1498426606 (Orphanet:2781)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

IAO 0000589

osteopetrosis (disease)

closeMatch

http://identifiers.org/meddra/10031280

exactMatch

http://purl.obolibrary.org/obo/NCIT_C26840

http://identifiers.org/medgen/18223

http://identifiers.org/mesh/D010022

http://identifiers.org/snomedct/1926006

http://linkedlifedata.com/resource/umls/id/C0029454

http://www.orpha.net/ORDO/Orphanet_2781

http://purl.obolibrary.org/obo/DOID_13533

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019703

has related synonym

osteopetroses

osteopetrosis and related disorders

osteosclerosis fragilis

Albers-Schoenberg disease

id

MONDO:0017198

Term relations