chromosome 10q23 deletion syndrome

Summary
Definition
A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
Super Class
chromosomal deletion syndrome
Disease Ontology
DOID:0060389
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
12166 Bmpr1a bone morphogenetic protein receptor, type 1A
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P36895 Bone morphogenetic protein receptor type-1A
The Human Phenotype Ontology
Displaying entries 41 - 42 of 42 in total
HPO ID HPO Term
HP:0004390 Hamartomatous polyposis
HP:0006608 Midclavicular hypoplasia
Displaying 1 entry
Gene ID Gene Symbol Description
5728 PTEN phosphatase and tensin homolog

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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: April 6, 2026