(Q1755568)

English

osteopetrosis

an extremely rare inherited disorder whereby the bones harden, becoming denser, sometimes causing bones to dissolve and break, caused by malfunctioning osteoclasts’ inability to resorb bone

Albers-Schonberg disease
marble bone
marble bone disease
Albers-Schönberg disease

In more languages

default for all languages

No label defined

No description defined

Statements

designated intractable/rare disease

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

class of disease

0 references

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

Osteopetrosis tarda2.PNG
505 × 439; 196 KB

0 references

Heinrich Albers-Schönberg

0 references

health specialty

medical genetics

0 references

drug or therapy used for treatment

interferon gamma-1b

1 reference

language of work or name

13 December 2016

genetic association

1 reference

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

1 reference

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

external data available at URL

http://www.nanbyou.or.jp/entry/5392

language of work or name

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

756.52

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

NCI Thesaurus ID

C26840

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

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

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:13533

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_667

0 references

Commons category

Osteopetrosis

0 references

Identifiers

Bibliothèque nationale de France ID

subject named as

Ostéopétrose

1 reference

Nuovo soggettario

https://thes.bncf.firenze.sbn.it/termine.php?id=57916

17 June 2021

987007553342005171

1 reference

National Library of Israel Names and Subjects Authority File

Library of Congress authority ID

subject named as

Osteopetrosis

1 reference

Nuovo soggettario

https://thes.bncf.firenze.sbn.it/termine.php?id=57916

17 June 2021

MeSH descriptor ID

subject named as

Osteopetrosis

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

C05.116.099.708.702.678

0 references

PatientsLikeMe condition ID

0 references

0 references

BNCF Thesaurus ID

1 reference

Nuovo soggettario

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

science/marble-bone-disease

subject named as

marble bone disease

0 references

Encyclopedia of China (Third Edition) ID

0 references

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

0 references

Gran Enciclopèdia Catalana ID

0 references

Gran Enciclopèdia Catalana ID (former scheme)

0 references

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology

19 April 2019

https://hpo.jax.org/app/browse/term/HP:0011002

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

ICD-11 ID (Foundation)

0 references

ICD-11 ID (MMS)

LD24.10

subject named as

Osteopetrosis

0 references

JSTOR topic ID (archived)

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Microsoft Academic ID

0 references

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Osteopetrosis&oldid=951453917

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

0 references

1 reference

http://www.patient.co.uk/patientplus/o.htm

1 reference

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

WikiProjectMed ID

0 references

WordNet 3.1 Synset ID

14233601-n

1 reference

Sitelinks

Wikipedia(20 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Osteopetrosis

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