calvarial doughnut lesions with bone fragility

Summary
Definition
An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
Super Class
osteochondrodysplasia
External Links
Disease Ontology
DOID:0080721
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
166929 SGMS2 sphingomyelin synthase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 13 in total
HPO ID HPO Term
HP:0002650 Scoliosis
HP:0000926 Platyspondyly
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0000410 Mixed hearing impairment
HP:0002757 Recurrent fractures
HP:0000939 Osteoporosis
HP:0000006 Autosomal dominant inheritance
HP:0001270 Motor delay
HP:0002980 Femoral bowing
HP:0000670 Carious teeth
Displaying 1 entry
Gene ID Gene Symbol Description
166929 SGMS2 sphingomyelin synthase 2

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024