Distal hereditary motor neuropathies (Q5282840)

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Human disease

• distal hereditary motor neuropathy
• Distal spinal muscular atrophy
• dSMA
• dHMN
• neuronopathy, distal hereditary motor

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Language	Label	Description	Also known as
English	Distal hereditary motor neuropathies	Human disease	distal hereditary motor neuropathy Distal spinal muscular atrophy dSMA dHMN neuronopathy, distal hereditary motor

Statements

instance of

class of disease

0 references

subclass of

motor neuron disease

0 references

genetic motor neuron disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0018894

genetic association

BSCL2

1 reference

stated in

ClinGen

retrieved

19 May 2022

reference URL

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02472719-c26d-40ff-8ad4-897ef7a6800a-2021-09-23T001322.660Z

exact match

http://www.orpha.net/ORDO/Orphanet_53739

0 references

Identifiers

KEGG ID

H00856

0 references

Freebase ID

/m/0h_cbjr

0 references

GARD rare disease ID

12683

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0018894

Microsoft Academic ID

2781170307

0 references

Mondo ID

MONDO_0018894

0 references

Orphanet ID

3739

0 references

53739

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0018894

UMLS CUI

C0393541

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0018894

WikiProjectMed ID

Distal hereditary motor neuronopathies

0 references

 

Sitelinks

Wikipedia(1 entry)

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• enwiki Distal hereditary motor neuronopathies

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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