proximal symphalangism

Summary
Synonym
  • Cushing's symphalangism
Definition
A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Super Class
autosomal dominant disease bone disease syndrome
Disease Ontology
DOID:0050788
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9241 NOG noggin
Displaying 1 entry
Gene ID Gene Symbol Description Source
18121 Nog noggin
Displaying 1 entry
Gene ID Gene Symbol Description Source
25495 Nog noggin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30173 nog3 noggin 3
30174 nog1 noggin 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
373646 nog.L noggin L homeolog Xenopus laevis (African clawed frog)
493191 nog noggin Xenopus tropicalis (tropical clawed frog)
108704141 nog.S noggin S homeolog Xenopus laevis (African clawed frog)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024