Poland syndrome

Summary
Synonym
  • Poland's syndactyly
Definition
A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
Super Class
physical disorder
External Links
Disease Ontology
DOID:12961
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1431 CS citrate synthase
1595 CYP51A1 cytochrome P450 family 51 subfamily A member 1
4534 MTM1 myotubularin 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75390 Citrate synthase, mitochondrial

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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: August 19, 2024