(Q7939442)

developmental defect during embryogenesis

28 July 2018

Mondo ID

MONDO_0007422

1 reference

28 July 2018

0 references

0 references

palmoplantar keratosis

1 reference

Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report

syndromic genetic deafness

1 reference

autosomal dominant diffuse mutilating palmoplantar keratoderma

28 July 2018

Mondo ID

MONDO_0007422

1 reference

autosomal dominant disease

28 July 2018

Mondo ID

MONDO_0007422

1 reference

30 November 2020

1 reference

30 November 2020

head and neck disease

0 references

developmental defect during embryogenesis

0 references

0 references

0 references

3 references

13 August 2019

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007422

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

757.39

1 reference

http://www.orpha.net/ORDO/Orphanet_494

28 July 2018

0 references

http://purl.obolibrary.org/obo/DOID_0111339

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111339

1 reference

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

Identifiers.org

reference URL

Identifiers

MeSH descriptor ID

C536457

1 reference

28 July 2018

0 references

1 reference

30 November 2020

1 reference

English Wikipedia

eMedicine ID

1108458

1 reference

Genetics Home Reference Conditions ID

English Wikipedia

GARD rare disease ID

3092

0 references

vohwinkel-syndrome

0 references

ICD-10

Q82.8

1 reference

1 reference

28 July 2018

0 references

2 references

English Wikipedia

28 July 2018

1 reference

28 July 2018

1 reference