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Hereditary diffuse leukoencephalopathy with spheroids (Q5737835)

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medical condition

Familial dementia, Neumann type
LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS
Gliosis, Familial Progressive Subcortical
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS
Subcortical gliosis of Neumann
Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
GPSC
Dementia, Familial, Neumann Type
ALSP
POLD
Pigmentary orthochromatic leukodystrophy
Familial progressive subcortical gliosis
FPSG
HDLS
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
Hereditary diffuse leukoencephalopathy
Hereditary diffuse leukoencephalopathy with spheroid

Language	Label	Description	Also known as
English	Hereditary diffuse leukoencephalopathy with spheroids	medical condition	Familial dementia, Neumann type LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS Gliosis, Familial Progressive Subcortical Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS Subcortical gliosis of Neumann Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant GPSC Dementia, Familial, Neumann Type ALSP POLD Pigmentary orthochromatic leukodystrophy Familial progressive subcortical gliosis FPSG HDLS Autosomal dominant leukoencephalopathy with neuroaxonal spheroids Hereditary diffuse leukoencephalopathy Hereditary diffuse leukoencephalopathy with spheroid

Statements

designated intractable/rare disease

1 reference

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

17 May 2019

0 references

class of disease

0 references

0 references

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

external data available at URL

http://www.nanbyou.or.jp/entry/4498

language of work or name

1 reference

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

17 May 2019

323.81

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

NCI Thesaurus ID

C153289

0 references

http://www.orpha.net/ORDO/Orphanet_313808

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

GARD rare disease ID

0 references

Genetics Home Reference Conditions ID

adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

mapping relation type

2 references

imported from Wikimedia project

English Wikipedia

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

imported from Wikimedia project

English Wikipedia

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

WikiProjectMed ID

Hereditary diffuse leukoencephalopathy with spheroids

0 references

Sitelinks

Wikipedia(4 entries)

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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