rhizomelic chondrodysplasia punctata

Summary
Synonym
  • Chondrodysplasia Punctata, Rhizomelic Form
Definition
A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
Super Class
autosomal recessive disease chondrodysplasia punctata
External Links
Disease Ontology
DOID:2580
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
8443 GNPAT glyceronephosphate O-acyltransferase
8540 AGPS alkylglycerone phosphate synthase
84188 FAR1 fatty acyl-CoA reductase 1
Related Glycoprotein

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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