PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Osteopetrosis
Synonyms
Definitions

An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.

ID

http://www.phoc.org.cn/pmo/class/PMO_00085629

Database_Cross_Reference

MEDCIN:32590

OMIM:MTHU056843

ICD10AM:Q78.2

MTH:NOCODE

RCD:PG52.

CSP:1849-7232

MDR:10031280

SNOMEDCT_US:205500005

NDFRT:N0000002258

COSTAR:NOCODE

CHV:0000024112

SNOMEDCT_US:63941000

LCH_NW:sh85095983

ICD10:Q78.2

DXP:U001354

MDR:10001556

NCI:C26840

MSH:D010022

SNM:M-22540

HPO:HP:0011002

SNM:D-5262

SNOMEDCT_US:1926006

RCD:PG521

SNOMEDCT_US:205502002

SNOMEDCT_VET:1926006

SNMI:D1-61860

LCH:U003405

CHV:0000009093

DO:DOID:13533

DXP:U000425

DXP:NOCODE

SNMI:D4-00B01

MDR:10026821

SNOMEDCT_US:360504006

ICD9CM:756.52

SNOMEDCT_US:367489004

ICD10CM:Q78.2

Definition

An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.

label

Osteopetrosis

MCID

MC00009301

PMOID

PMO:00085629

prefixIRI

pmo:PMO_00085629

prefLabel

Osteopetrosis

Synonym

Marble bone

Albers-Schonberg Disease

Osteopetrosis - congenita type

osteosclerosis fragilis

marble bones

marble bone

Albers-Schoonberg syndrome

Albers-Scho?nberg syndrome

Albers-Scho@nberg syndrome

Osteopetrosis, NOS

Albers-Schonberg syndrome

Marble Bone Disease

Osteosclerosis Fragilis

Osteopetrosis [Disease/Finding]

osteopetrosis (diagnosis)

Osteopetroses

bones thickening

Disease, Albers-Schonberg

Albers Schonberg Disease

ALBERS-SCHOENBERG DISEASE

Albers-Schoenberg Disease

ALBERS SCHOENBERG DIS

OSTEOPETROSIS

Albers-Schoönberg syndrome

Albers Schoenberg Disease

Disease, Marble Bone

congenital osteopetrosis

Albers-Schonberg disease

Osteosclerosis Fragilis Generalisata

OSTEOSCLEROSIS, GENERALIZED CONGENITAL

osteopetroses

osteopetrosis

BONE THICKENING

thicken bone

Albers-Schönberg Disease

MARBLE BONES

marble bone disease

Marble bone disease

Osteopetrosis [dup] (disorder)

Disease, Albers-Schönberg

MARBLE BONE DIS

Ivory bones

Albers-Schönberg syndrome

Albers Schönberg Disease

Albers-Schoenberg syndrome

Disease, Albers-Schoenberg

Albers-Sch?nberg disease

Osteopetrosis [Ambiguous]

Bone thickened

bone thickening

IVORY BONES

Osteopetrosis generalisata

Albers-Schönberg disease

Osteopetrosis (disorder)

Congenital osteopetrosis

Albers Schoenberg disease

bones disease marble

Osteosclerosis Fragilis Generalisatas

Tree Number

T9.8.4.19.6.1

T9.3.9.22.13.6.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036732

http://www.phoc.org.cn/pmo/class/PMO_00013677

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13533 DOID LOOM
http://purl.obolibrary.org/obo/HP_0011002 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0017198 MONDO 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://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