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

disease_grouping, ordo_group_of_disorders

OBO foundry unique label

osteopetrosis (disease)

closeMatch

http://identifiers.org/meddra/10031280

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

http://identifiers.org/snomedct/1926006

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

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

excluded subClassOf

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

has exact synonym

osteopetrosis (disease)

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