hypertrichotic osteochondrodysplasia Cantu type

Summary
Synonym
  • Cantu syndrome
Definition
An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:0060569
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10060 ABCC9 ATP binding cassette subfamily C member 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
20928 Abcc9 ATP-binding cassette, sub-family C member 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
25560 Abcc9 ATP binding cassette subfamily C member 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
850678 YBT1 bile acid-transporting ATPase YBT1

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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