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
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
657 BMPR1A bone morphogenetic protein receptor type 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12166 Bmpr1a bone morphogenetic protein receptor, type 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
81507 Bmpr1a bone morphogenetic protein receptor type 1A
Displaying 1 entry
Gene ID Gene Symbol Description Source
174044 sma-6 Serine/threonine-protein kinase receptor sma-6
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
HPO ID HPO Term
HP:0000160 Narrow mouth
HP:0000256 Macrocephaly
HP:0000316 Hypertelorism
HP:0000331 Short chin
HP:0000369 Low-set ears
HP:0000494 Downslanted palpebral fissures
HP:0001028 Hemangioma
HP:0001031 Subcutaneous lipoma
HP:0001249 Intellectual disability
HP:0001256 Intellectual disability, mild
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: December 9, 2024