(Q55783477)

English

familial digital arthropathy-brachydactyly

No description defined

DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
FDAB

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

syndrome with brachydactyly

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

TRPV4-related bone disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0011732

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C175208

mapping relation type

0 references

http://www.orpha.net/ORDO/Orphanet_85169

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

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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