chondrodysplasia-pseudohermaphroditism syndrome

Summary
Synonym
  • Nivelon-Nivelon-Mabille syndrome
  • chondrodysplasia-disorder of sex development syndrome
Definition
A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
Super Class
syndrome
External Links
Disease Ontology
DOID:0060644
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 35 in total
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5621 PRNP prion protein (Kanno blood group)
5728 PTEN phosphatase and tensin homolog
8658 TNKS tankyrase
8879 SGPL1 sphingosine-1-phosphate lyase 1
9126 SMC3 structural maintenance of chromosomes 3
9365 KL klotho
Displaying 1 entry
Gene ID Gene Symbol Description Source
852796 GUP1 O-acyltransferase

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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