loading...| Preferred Name |
osteopetrosis (disease) |
|
| Synonyms |
Albers-Schoenberg disease osteosclerosis fragilis osteopetrosis and related disorders osteopetroses marble bones marble bone Albers-Schonberg disease osteopetrosis marble bone disease |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017198 |
|
| closeMatch |
http://linkedlifedata.com/resource/umls/id/C0029454 http://identifiers.org/snomedct/205500005 http://identifiers.org/snomedct/63941000 |
|
| database_cross_reference |
HP:0011002 DOID:13533 OMIMPS:259700 GARD:0004155 SCTID:1926006 ICD10:Q78.2 MedDRA:10031280 COHD:81403 NCIT:C26840 ICD9:756.52 Orphanet:2781 |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_13533 http://identifiers.org/meddra/10031280 http://identifiers.org/snomedct/1926006 http://www.orpha.net/ORDO/Orphanet_2781 |
|
| has exact synonym |
marble bones marble bone Albers-Schonberg disease osteopetrosis marble bone disease |
|
| has related synonym |
Albers-Schoenberg disease osteosclerosis fragilis osteopetrosis and related disorders osteopetroses |
|
| id |
MONDO:0017198 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
osteopetrosis (disease) |
|
| notation |
MONDO:0017198 |
|
| prefLabel |
osteopetrosis (disease) |
|
| textual 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. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0017198 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017198 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017198 | DOVES | SAME_URI |