(Q55784310)

English

peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

human disease

PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PNMHH
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

head and neck disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

syndromic genetic deafness

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal dominant distal myopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal dominant distal hereditary motor neuropathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

http://www.orpha.net/ORDO/Orphanet_397744

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 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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