congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (Q55785091)

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human disease

• Congenital muscular dystrophy, Davignon-Chauveau type
• MDCDC
• Muscular Dystrophy, Congenital, Davignon-Chauveau Type

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Language	Label	Description	Also known as
English	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	human disease	Congenital muscular dystrophy, Davignon-Chauveau type MDCDC Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Statements

instance of

rare disease

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class of disease

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subclass of

disease

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genetic association

TRIP4

1 reference

stated in

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

exact match

http://www.orpha.net/ORDO/Orphanet_486815

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Identifiers

Mondo ID

MONDO_0014896

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OMIM ID

617066

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014896

Orphanet ID

486815

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014896

UMLS CUI

C4310736

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014896

UniProt disease ID

DI-04800

0 references

 

Sitelinks

Wikipedia(0 entries)

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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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