Weissenbacher-Zweymuller syndrome

Summary
Synonym
  • Piere-Robin syndrome
  • Pierre Robin Malformation
Definition
An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
Super Class
osteochondrodysplasia
External Links
Disease Ontology
DOID:4258
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 21 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
217 ALDH2 aldehyde dehydrogenase 2 family member
811 CALR calreticulin
952 CD38 CD38 molecule
1109 AKR1C4 aldo-keto reductase family 1 member C4
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1604 CD55 CD55 molecule (Cromer blood group)
1836 SLC26A2 solute carrier family 26 member 2
2539 G6PD glucose-6-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1

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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