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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:2781 (MONDO:equivalentTo)
  • SCTID:1926006 (MONDO:equivalentTo)
  • ICD10:Q78.2 (Orphanet:2781)
  • ICD9:756.52 (i2s)
  • HP:0011002 (MONDO:otherHierarchy)
  • NCIT:C26840 (MONDO:equivalentTo)
  • DOID:13533 (MONDO:equivalentTo)
  • GARD:0004155 (Orphanet-shared)
  • OMIMPS:259700 (DOID:13533)
  • MedDRA:10031280 (Orphanet:2781)
  • COHD:81403 (MONDO:equivalentTo)
Subsets

ordo_group_of_disorders

closeMatch

http://identifiers.org/snomedct/205500005

http://identifiers.org/snomedct/360504006

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

http://identifiers.org/snomedct/63941000

http://identifiers.org/snomedct/205502002

definition

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.

exactMatch

http://identifiers.org/meddra/10031280

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

http://identifiers.org/mesh/D010022

http://identifiers.org/snomedct/1926006

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

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

has exact synonym

osteopetrosis

marble bones

marble bone

marble bone disease

Albers-Schonberg disease

has related synonym

osteopetroses

osteopetrosis and related disorders

osteosclerosis fragilis

Albers-Schoenberg disease

id

MONDO:0017198