(Q32145433)

English

brachydactyly type C

), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

BDC
Brachydactyly, Haws Type
BRACHYDACTYLY, TYPE C
BRACHYDACTYLY, TYPE C; BDC

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No description defined

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic disease

0 references

0 references

class of disease

0 references

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

syndrome with brachydactyly

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal dominant disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000125965/MONDO_0007221

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110970

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110970

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://purl.obolibrary.org/obo/HP_0009373

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

http://www.orpha.net/ORDO/Orphanet_93384

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

UniProt disease ID

0 references

Sitelinks

Wikipedia(1 entry)

dewiki Brachydaktylie Typ C

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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