/symphalangism, proximal, 1B

symphalangism, proximal, 1B

Rare Disease

MONDO:0014125

Also Known As

GDF5 proximal symphalangism (disease)proximal symphalangism (disease) caused by mutation in GDF5symphalangism, proximal, 1Bsymphalangism, proximal, type 1BSYM1B

Definition

Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.

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Associated Genes

GDF5 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615298 ↗

GARD

GARD:15942 ↗

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proximal symphalangism 1A

MONDO:0020733

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