Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	osteopetrosis
Synonyms	Albers-Schoenberg disease osteosclerosis fragilis osteopetrosis and related disorders osteopetroses marble bones marble bone osteopetrosis (disease) 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
database_cross_reference	HP:0011002 DOID:13533 NANDO:2201013 NANDO:1200998 SCTID:1926006 MedDRA:10031280 icd11.foundation:1498426606 MESH:D010022 GARD:4155 MEDGEN:18223 NORD:1538 UMLS:C0029454 NCIT:C26840 ICD9:756.52 Orphanet:2781
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.
has_exact_synonym	marble bones marble bone osteopetrosis (disease) Albers-Schonberg disease osteopetrosis marble bone disease
has_related_synonym	Albers-Schoenberg disease osteosclerosis fragilis osteopetrosis and related disorders osteopetroses
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
IAO_0000589	osteopetrosis (disease)
id	MONDO:0017198
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	osteopetrosis
notation	MONDO:0017198
prefLabel	osteopetrosis
skos_closeMatch	http://identifiers.org/meddra/10031280
skos_exactMatch	http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1498426606 http://linkedlifedata.com/resource/umls/id/C0029454 http://identifiers.org/medgen/18223 http://purl.obolibrary.org/obo/DOID_13533 http://identifiers.org/snomedct/1926006 http://purl.obolibrary.org/obo/Orphanet_2781 http://purl.obolibrary.org/obo/NCIT_C26840 http://identifiers.org/mesh/D010022
treeView	http://purl.obolibrary.org/obo/MONDO_0018230 http://purl.obolibrary.org/obo/MONDO_0042973
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0019703
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018230 http://purl.obolibrary.org/obo/MONDO_0042973

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017198	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017198	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017198	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017198	KTAO	SAME_URI
http://purl.obolibrary.org/obo/DOID_13533	DOID	LOOM
http://purl.obolibrary.org/obo/HP_0011002	OBA	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://nanbyodata.jp/ontology/NANDO_1200998	NANDO	LOOM
http://purl.obolibrary.org/obo/DOID_13533	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_13533	DOID	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	DDSS	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://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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0017198	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017198	DOVES	LOOM
http://purl.obolibrary.org/obo/MP_0000067	MP	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://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	CCONT	LOOM
http://purl.obolibrary.org/obo/HP_0011002	EFO	LOOM
http://purl.obolibrary.org/obo/HP_0011002	HP	LOOM
http://purl.obolibrary.org/obo/HP_0011002	UPHENO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU056843	OMIM	LOOM
http://www.radlex.org/RID/RID5392	RADLEX	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
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO	LOOM
http://purl.bioontology.org/ontology/CSP/1849-7232	CRISP	LOOM
rgo:08695	GAMUTS	LOOM