(Q3281284)

English

Nasu-Hakola disease

human disease

PLO-SL
progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
presenile dementia with bone cysts
PLOSL
NHD
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Dementia, Prefrontal, With Bone Cysts
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
Brain-Bone-Fat Disease
Nasu-Hakola Disease
Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

designated intractable/rare disease

1 reference

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

17 May 2019

0 references

class of disease

0 references

autosomal recessive disease

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

nervous system heredodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

primary osteolysis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000011600/Orphanet_2770

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000095970/Orphanet_2770

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4256

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

758.89

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

http://purl.obolibrary.org/obo/DOID_0090112

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:0090112

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_2770

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

GARD rare disease ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

3 July 2018

Genetics Home Reference Conditions ID

polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

UniProt disease ID

0 references

subject named as

Hakolan tauti

Hakolas sjukdom

Nasu-Hakola disease

1 reference

YSO-Wikidata mapping project

31 January 2022

Sitelinks

Wikipedia(5 entries)

dewiki Nasu-Hakola-Krankheit
enwiki Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
fiwiki Nasu–Hakolan tauti
frwiki Maladie de Nasu-Hakola
plwiki Choroba Nasu-Hakoli

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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